Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium
Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis s...
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| Veröffentlicht in: | Human genetics 2012-09, Vol.131 (9), p.1467-1480 |
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| creator | Verhoeven, Virginie J. M. Hysi, Pirro G. Saw, Seang-Mei Vitart, Veronique Mirshahi, Alireza Guggenheim, Jeremy A. Cotch, Mary Frances Yamashiro, Kenji Baird, Paul N. Mackey, David A. Wojciechowski, Robert Ikram, M. Kamran Hewitt, Alex W. Duggal, Priya Janmahasatian, Sarayut Khor, Chiea-Chuen Fan, Qiao Zhou, Xin Young, Terri L. Tai, E-Shyong Goh, Liang-Kee Li, Yi-Ju Aung, Tin Vithana, Eranga Teo, Yik-Ying Tay, Wanting Sim, Xueling Rudan, Igor Hayward, Caroline Wright, Alan F. Polasek, Ozren Campbell, Harry Wilson, James F. Fleck, Brian W. Nakata, Isao Yoshimura, Nagahisa Yamada, Ryo Matsuda, Fumihiko Ohno-Matsui, Kyoko Nag, Abhishek McMahon, George Pourcain, Beate St Lu, Yi Rahi, Jugnoo S. Cumberland, Phillippa M. Bhattacharya, Shomi Simpson, Claire L. Atwood, Larry D. Li, Xiaohui Raffel, Leslie J. Murgia, Federico Portas, Laura Despriet, Dominiek D. G. van Koolwijk, Leonieke M. E. Wolfram, Christian Lackner, Karl J. Tönjes, Anke Mägi, Reedik Lehtimäki, Terho Kähönen, Mika Esko, Tõnu Metspalu, Andres Rantanen, Taina Pärssinen, Olavi Klein, Barbara E. Meitinger, Thomas Spector, Timothy D. Oostra, Ben A. Smith, Albert V. de Jong, Paulus T. V. M. Hofman, Albert Amin, Najaf Karssen, Lennart C. Rivadeneira, Fernando Vingerling, Johannes R. Eiríksdóttir, Guðný Gudnason, Vilmundur Döring, Angela Bettecken, Thomas Uitterlinden, André G. Williams, Cathy Zeller, Tanja Castagné, Raphaële Oexle, Konrad van Duijn, Cornelia M. Iyengar, Sudha K. Mitchell, Paul Wang, Jie Jin Höhn, René Pfeiffer, Norbert Bailey-Wilson, Joan E. Stambolian, Dwight Wong, Tien-Yin Hammond, Christopher J. Klaver, Caroline C. W. |
| description | Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on 15q25 using linear regression analysis with spherical equivalent as a quantitative outcome, adjusted for age and sex. We calculated the odds ratio (OR) of myopia versus hyperopia for carriers of the top-SNP alleles using a fixed effects meta-analysis. At locus 15q14, all SNPs were significantly replicated, with the lowest
P
value 3.87 × 10
−12
for SNP rs634990 in Caucasians, and 9.65 × 10
−4
for rs8032019 in Asians. The overall meta-analysis provided
P
value 9.20 × 10
−23
for the top SNP rs634990. The risk of myopia versus hyperopia was OR 1.88 (95 % CI 1.64, 2.16,
P
|
| doi_str_mv | 10.1007/s00439-012-1176-0 |
| format | Article |
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The CREAM consortium</title><source>MEDLINE</source><source>Springer Nature - Complete Springer Journals</source><creator>Verhoeven, Virginie J. M. ; Hysi, Pirro G. ; Saw, Seang-Mei ; Vitart, Veronique ; Mirshahi, Alireza ; Guggenheim, Jeremy A. ; Cotch, Mary Frances ; Yamashiro, Kenji ; Baird, Paul N. ; Mackey, David A. ; Wojciechowski, Robert ; Ikram, M. Kamran ; Hewitt, Alex W. ; Duggal, Priya ; Janmahasatian, Sarayut ; Khor, Chiea-Chuen ; Fan, Qiao ; Zhou, Xin ; Young, Terri L. ; Tai, E-Shyong ; Goh, Liang-Kee ; Li, Yi-Ju ; Aung, Tin ; Vithana, Eranga ; Teo, Yik-Ying ; Tay, Wanting ; Sim, Xueling ; Rudan, Igor ; Hayward, Caroline ; Wright, Alan F. ; Polasek, Ozren ; Campbell, Harry ; Wilson, James F. ; Fleck, Brian W. ; Nakata, Isao ; Yoshimura, Nagahisa ; Yamada, Ryo ; Matsuda, Fumihiko ; Ohno-Matsui, Kyoko ; Nag, Abhishek ; McMahon, George ; Pourcain, Beate St ; Lu, Yi ; Rahi, Jugnoo S. ; Cumberland, Phillippa M. ; Bhattacharya, Shomi ; Simpson, Claire L. ; Atwood, Larry D. ; Li, Xiaohui ; Raffel, Leslie J. ; Murgia, Federico ; Portas, Laura ; Despriet, Dominiek D. G. ; van Koolwijk, Leonieke M. E. ; Wolfram, Christian ; Lackner, Karl J. ; Tönjes, Anke ; Mägi, Reedik ; Lehtimäki, Terho ; Kähönen, Mika ; Esko, Tõnu ; Metspalu, Andres ; Rantanen, Taina ; Pärssinen, Olavi ; Klein, Barbara E. ; Meitinger, Thomas ; Spector, Timothy D. ; Oostra, Ben A. ; Smith, Albert V. ; de Jong, Paulus T. V. M. ; Hofman, Albert ; Amin, Najaf ; Karssen, Lennart C. ; Rivadeneira, Fernando ; Vingerling, Johannes R. ; Eiríksdóttir, Guðný ; Gudnason, Vilmundur ; Döring, Angela ; Bettecken, Thomas ; Uitterlinden, André G. ; Williams, Cathy ; Zeller, Tanja ; Castagné, Raphaële ; Oexle, Konrad ; van Duijn, Cornelia M. ; Iyengar, Sudha K. ; Mitchell, Paul ; Wang, Jie Jin ; Höhn, René ; Pfeiffer, Norbert ; Bailey-Wilson, Joan E. ; Stambolian, Dwight ; Wong, Tien-Yin ; Hammond, Christopher J. ; Klaver, Caroline C. W.</creator><creatorcontrib>Verhoeven, Virginie J. M. ; Hysi, Pirro G. ; Saw, Seang-Mei ; Vitart, Veronique ; Mirshahi, Alireza ; Guggenheim, Jeremy A. ; Cotch, Mary Frances ; Yamashiro, Kenji ; Baird, Paul N. ; Mackey, David A. ; Wojciechowski, Robert ; Ikram, M. Kamran ; Hewitt, Alex W. ; Duggal, Priya ; Janmahasatian, Sarayut ; Khor, Chiea-Chuen ; Fan, Qiao ; Zhou, Xin ; Young, Terri L. ; Tai, E-Shyong ; Goh, Liang-Kee ; Li, Yi-Ju ; Aung, Tin ; Vithana, Eranga ; Teo, Yik-Ying ; Tay, Wanting ; Sim, Xueling ; Rudan, Igor ; Hayward, Caroline ; Wright, Alan F. ; Polasek, Ozren ; Campbell, Harry ; Wilson, James F. ; Fleck, Brian W. ; Nakata, Isao ; Yoshimura, Nagahisa ; Yamada, Ryo ; Matsuda, Fumihiko ; Ohno-Matsui, Kyoko ; Nag, Abhishek ; McMahon, George ; Pourcain, Beate St ; Lu, Yi ; Rahi, Jugnoo S. ; Cumberland, Phillippa M. ; Bhattacharya, Shomi ; Simpson, Claire L. ; Atwood, Larry D. ; Li, Xiaohui ; Raffel, Leslie J. ; Murgia, Federico ; Portas, Laura ; Despriet, Dominiek D. G. ; van Koolwijk, Leonieke M. E. ; Wolfram, Christian ; Lackner, Karl J. ; Tönjes, Anke ; Mägi, Reedik ; Lehtimäki, Terho ; Kähönen, Mika ; Esko, Tõnu ; Metspalu, Andres ; Rantanen, Taina ; Pärssinen, Olavi ; Klein, Barbara E. ; Meitinger, Thomas ; Spector, Timothy D. ; Oostra, Ben A. ; Smith, Albert V. ; de Jong, Paulus T. V. M. ; Hofman, Albert ; Amin, Najaf ; Karssen, Lennart C. ; Rivadeneira, Fernando ; Vingerling, Johannes R. ; Eiríksdóttir, Guðný ; Gudnason, Vilmundur ; Döring, Angela ; Bettecken, Thomas ; Uitterlinden, André G. ; Williams, Cathy ; Zeller, Tanja ; Castagné, Raphaële ; Oexle, Konrad ; van Duijn, Cornelia M. ; Iyengar, Sudha K. ; Mitchell, Paul ; Wang, Jie Jin ; Höhn, René ; Pfeiffer, Norbert ; Bailey-Wilson, Joan E. ; Stambolian, Dwight ; Wong, Tien-Yin ; Hammond, Christopher J. ; Klaver, Caroline C. W.</creatorcontrib><description>Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on 15q25 using linear regression analysis with spherical equivalent as a quantitative outcome, adjusted for age and sex. We calculated the odds ratio (OR) of myopia versus hyperopia for carriers of the top-SNP alleles using a fixed effects meta-analysis. At locus 15q14, all SNPs were significantly replicated, with the lowest
P
value 3.87 × 10
−12
for SNP rs634990 in Caucasians, and 9.65 × 10
−4
for rs8032019 in Asians. The overall meta-analysis provided
P
value 9.20 × 10
−23
for the top SNP rs634990. The risk of myopia versus hyperopia was OR 1.88 (95 % CI 1.64, 2.16,
P
< 0.001) for homozygous carriers of the risk allele at the top SNP rs634990, and OR 1.33 (95 % CI 1.19, 1.49,
P
< 0.001) for heterozygous carriers. SNPs at locus 15q25 did not replicate significantly (
P
value 5.81 × 10
−2
for top SNP rs939661). We conclude that common variants at chromosome 15q14 influence susceptibility for myopia in Caucasian and Asian populations world-wide.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/s00439-012-1176-0</identifier><identifier>PMID: 22665138</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer-Verlag</publisher><subject>Age ; Alleles ; Analysis ; Asian people ; Biomedical and Life Sciences ; Biomedicine ; chromosome 15 ; Chromosomes ; Chromosomes, Human, Pair 15 ; Consortia ; Cream ; Epidemiology ; Gene Function ; Genetic polymorphisms ; Genomes ; Genomics ; Human Genetics ; Humans ; Meta-analysis ; Metabolic Diseases ; Molecular Medicine ; Myopia ; Myopia - genetics ; Ophthalmology ; Original Investigation ; Phenotype ; Polymorphism, Single Nucleotide ; Population studies ; Regression analysis ; Replication ; Reviews ; Single-nucleotide polymorphism ; Visual impairment ; White people</subject><ispartof>Human genetics, 2012-09, Vol.131 (9), p.1467-1480</ispartof><rights>The Author(s) 2012</rights><rights>COPYRIGHT 2012 Springer</rights><rights>Springer-Verlag 2012</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c604t-89b450a4471a2a2b94cd6e8f8d12a32681a6b28d3b4ed921f0e7d8b4c23f92783</citedby><cites>FETCH-LOGICAL-c604t-89b450a4471a2a2b94cd6e8f8d12a32681a6b28d3b4ed921f0e7d8b4c23f92783</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00439-012-1176-0$$EPDF$$P50$$Gspringer$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00439-012-1176-0$$EHTML$$P50$$Gspringer$$Hfree_for_read</linktohtml><link.rule.ids>230,314,776,780,881,27903,27904,41467,42536,51298</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22665138$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Verhoeven, Virginie J. M.</creatorcontrib><creatorcontrib>Hysi, Pirro G.</creatorcontrib><creatorcontrib>Saw, Seang-Mei</creatorcontrib><creatorcontrib>Vitart, Veronique</creatorcontrib><creatorcontrib>Mirshahi, Alireza</creatorcontrib><creatorcontrib>Guggenheim, Jeremy A.</creatorcontrib><creatorcontrib>Cotch, Mary Frances</creatorcontrib><creatorcontrib>Yamashiro, Kenji</creatorcontrib><creatorcontrib>Baird, Paul N.</creatorcontrib><creatorcontrib>Mackey, David A.</creatorcontrib><creatorcontrib>Wojciechowski, Robert</creatorcontrib><creatorcontrib>Ikram, M. Kamran</creatorcontrib><creatorcontrib>Hewitt, Alex W.</creatorcontrib><creatorcontrib>Duggal, Priya</creatorcontrib><creatorcontrib>Janmahasatian, Sarayut</creatorcontrib><creatorcontrib>Khor, Chiea-Chuen</creatorcontrib><creatorcontrib>Fan, Qiao</creatorcontrib><creatorcontrib>Zhou, Xin</creatorcontrib><creatorcontrib>Young, Terri L.</creatorcontrib><creatorcontrib>Tai, E-Shyong</creatorcontrib><creatorcontrib>Goh, Liang-Kee</creatorcontrib><creatorcontrib>Li, Yi-Ju</creatorcontrib><creatorcontrib>Aung, Tin</creatorcontrib><creatorcontrib>Vithana, Eranga</creatorcontrib><creatorcontrib>Teo, Yik-Ying</creatorcontrib><creatorcontrib>Tay, Wanting</creatorcontrib><creatorcontrib>Sim, Xueling</creatorcontrib><creatorcontrib>Rudan, Igor</creatorcontrib><creatorcontrib>Hayward, Caroline</creatorcontrib><creatorcontrib>Wright, Alan F.</creatorcontrib><creatorcontrib>Polasek, Ozren</creatorcontrib><creatorcontrib>Campbell, Harry</creatorcontrib><creatorcontrib>Wilson, James F.</creatorcontrib><creatorcontrib>Fleck, Brian W.</creatorcontrib><creatorcontrib>Nakata, Isao</creatorcontrib><creatorcontrib>Yoshimura, Nagahisa</creatorcontrib><creatorcontrib>Yamada, Ryo</creatorcontrib><creatorcontrib>Matsuda, Fumihiko</creatorcontrib><creatorcontrib>Ohno-Matsui, Kyoko</creatorcontrib><creatorcontrib>Nag, Abhishek</creatorcontrib><creatorcontrib>McMahon, George</creatorcontrib><creatorcontrib>Pourcain, Beate St</creatorcontrib><creatorcontrib>Lu, Yi</creatorcontrib><creatorcontrib>Rahi, Jugnoo S.</creatorcontrib><creatorcontrib>Cumberland, Phillippa M.</creatorcontrib><creatorcontrib>Bhattacharya, Shomi</creatorcontrib><creatorcontrib>Simpson, Claire L.</creatorcontrib><creatorcontrib>Atwood, Larry D.</creatorcontrib><creatorcontrib>Li, Xiaohui</creatorcontrib><creatorcontrib>Raffel, Leslie J.</creatorcontrib><creatorcontrib>Murgia, Federico</creatorcontrib><creatorcontrib>Portas, Laura</creatorcontrib><creatorcontrib>Despriet, Dominiek D. G.</creatorcontrib><creatorcontrib>van Koolwijk, Leonieke M. E.</creatorcontrib><creatorcontrib>Wolfram, Christian</creatorcontrib><creatorcontrib>Lackner, Karl J.</creatorcontrib><creatorcontrib>Tönjes, Anke</creatorcontrib><creatorcontrib>Mägi, Reedik</creatorcontrib><creatorcontrib>Lehtimäki, Terho</creatorcontrib><creatorcontrib>Kähönen, Mika</creatorcontrib><creatorcontrib>Esko, Tõnu</creatorcontrib><creatorcontrib>Metspalu, Andres</creatorcontrib><creatorcontrib>Rantanen, Taina</creatorcontrib><creatorcontrib>Pärssinen, Olavi</creatorcontrib><creatorcontrib>Klein, Barbara E.</creatorcontrib><creatorcontrib>Meitinger, Thomas</creatorcontrib><creatorcontrib>Spector, Timothy D.</creatorcontrib><creatorcontrib>Oostra, Ben A.</creatorcontrib><creatorcontrib>Smith, Albert V.</creatorcontrib><creatorcontrib>de Jong, Paulus T. V. M.</creatorcontrib><creatorcontrib>Hofman, Albert</creatorcontrib><creatorcontrib>Amin, Najaf</creatorcontrib><creatorcontrib>Karssen, Lennart C.</creatorcontrib><creatorcontrib>Rivadeneira, Fernando</creatorcontrib><creatorcontrib>Vingerling, Johannes R.</creatorcontrib><creatorcontrib>Eiríksdóttir, Guðný</creatorcontrib><creatorcontrib>Gudnason, Vilmundur</creatorcontrib><creatorcontrib>Döring, Angela</creatorcontrib><creatorcontrib>Bettecken, Thomas</creatorcontrib><creatorcontrib>Uitterlinden, André G.</creatorcontrib><creatorcontrib>Williams, Cathy</creatorcontrib><creatorcontrib>Zeller, Tanja</creatorcontrib><creatorcontrib>Castagné, Raphaële</creatorcontrib><creatorcontrib>Oexle, Konrad</creatorcontrib><creatorcontrib>van Duijn, Cornelia M.</creatorcontrib><creatorcontrib>Iyengar, Sudha K.</creatorcontrib><creatorcontrib>Mitchell, Paul</creatorcontrib><creatorcontrib>Wang, Jie Jin</creatorcontrib><creatorcontrib>Höhn, René</creatorcontrib><creatorcontrib>Pfeiffer, Norbert</creatorcontrib><creatorcontrib>Bailey-Wilson, Joan E.</creatorcontrib><creatorcontrib>Stambolian, Dwight</creatorcontrib><creatorcontrib>Wong, Tien-Yin</creatorcontrib><creatorcontrib>Hammond, Christopher J.</creatorcontrib><creatorcontrib>Klaver, Caroline C. W.</creatorcontrib><title>Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><addtitle>Hum Genet</addtitle><description>Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on 15q25 using linear regression analysis with spherical equivalent as a quantitative outcome, adjusted for age and sex. We calculated the odds ratio (OR) of myopia versus hyperopia for carriers of the top-SNP alleles using a fixed effects meta-analysis. At locus 15q14, all SNPs were significantly replicated, with the lowest
P
value 3.87 × 10
−12
for SNP rs634990 in Caucasians, and 9.65 × 10
−4
for rs8032019 in Asians. The overall meta-analysis provided
P
value 9.20 × 10
−23
for the top SNP rs634990. The risk of myopia versus hyperopia was OR 1.88 (95 % CI 1.64, 2.16,
P
< 0.001) for homozygous carriers of the risk allele at the top SNP rs634990, and OR 1.33 (95 % CI 1.19, 1.49,
P
< 0.001) for heterozygous carriers. SNPs at locus 15q25 did not replicate significantly (
P
value 5.81 × 10
−2
for top SNP rs939661). We conclude that common variants at chromosome 15q14 influence susceptibility for myopia in Caucasian and Asian populations world-wide.</description><subject>Age</subject><subject>Alleles</subject><subject>Analysis</subject><subject>Asian people</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>chromosome 15</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 15</subject><subject>Consortia</subject><subject>Cream</subject><subject>Epidemiology</subject><subject>Gene Function</subject><subject>Genetic polymorphisms</subject><subject>Genomes</subject><subject>Genomics</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Meta-analysis</subject><subject>Metabolic Diseases</subject><subject>Molecular Medicine</subject><subject>Myopia</subject><subject>Myopia - genetics</subject><subject>Ophthalmology</subject><subject>Original Investigation</subject><subject>Phenotype</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Population studies</subject><subject>Regression analysis</subject><subject>Replication</subject><subject>Reviews</subject><subject>Single-nucleotide polymorphism</subject><subject>Visual impairment</subject><subject>White people</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqNksFuEzEQhlcIREvhAbggS1zgsMFje732BSmKClQKQirlbHm93sTV7jq1vYU8Aa-N05QqQSBhH6zxfPPLnvmL4iXgGWBcv4sYMypLDKQEqHmJHxWnwGiOCKaPi1NMGS55DfVJ8SzGa4yhkqR6WpwQwnkFVJwWP5c6rCyKRvcWuTHZMOrk_Kh7FOymd-YuQnps0WCTLnXObKOLKKap3SLjx86FISIdozduD_sOpbVFUN0AQ703U0TfXVqjYes3Ts_QVU4uLs_nn3fl0YfkpuF58aTTfbQv7s-z4tuH86vFp3L55ePFYr4sDccslUI2rMKasRo00aSRzLTcik60QDQlXIDmDREtbZhtJYEO27oVDTOEdpLUgp4V7_e6m6kZbGvsmILu1Sa4QYet8tqp48zo1mrlbxVlIJjkWeDNvUDwN5ONSQ0uGtv3erR-igowlyClYPg_UEorWtUUMvr6D_TaT3kU_R1VEy6FPKBWeVrKjZ3PTzQ7UTWndV6CAcnU7C9U3q0dXO647Vy-Pyp4e1SQmWR_pJWeYlQXXy-PWdizJvgYg-0eWgdY7Uyp9qZU2ZRqZ0q168Orw54_VPx2YQbIHog5Na5sOPz9v1R_AUBD6xo</recordid><startdate>20120901</startdate><enddate>20120901</enddate><creator>Verhoeven, Virginie J. M.</creator><creator>Hysi, Pirro G.</creator><creator>Saw, Seang-Mei</creator><creator>Vitart, Veronique</creator><creator>Mirshahi, Alireza</creator><creator>Guggenheim, Jeremy A.</creator><creator>Cotch, Mary Frances</creator><creator>Yamashiro, Kenji</creator><creator>Baird, Paul N.</creator><creator>Mackey, David A.</creator><creator>Wojciechowski, Robert</creator><creator>Ikram, M. Kamran</creator><creator>Hewitt, Alex W.</creator><creator>Duggal, Priya</creator><creator>Janmahasatian, Sarayut</creator><creator>Khor, Chiea-Chuen</creator><creator>Fan, Qiao</creator><creator>Zhou, Xin</creator><creator>Young, Terri L.</creator><creator>Tai, E-Shyong</creator><creator>Goh, Liang-Kee</creator><creator>Li, Yi-Ju</creator><creator>Aung, Tin</creator><creator>Vithana, Eranga</creator><creator>Teo, Yik-Ying</creator><creator>Tay, Wanting</creator><creator>Sim, Xueling</creator><creator>Rudan, Igor</creator><creator>Hayward, Caroline</creator><creator>Wright, Alan F.</creator><creator>Polasek, Ozren</creator><creator>Campbell, Harry</creator><creator>Wilson, James F.</creator><creator>Fleck, Brian W.</creator><creator>Nakata, Isao</creator><creator>Yoshimura, Nagahisa</creator><creator>Yamada, Ryo</creator><creator>Matsuda, Fumihiko</creator><creator>Ohno-Matsui, Kyoko</creator><creator>Nag, Abhishek</creator><creator>McMahon, George</creator><creator>Pourcain, Beate St</creator><creator>Lu, Yi</creator><creator>Rahi, Jugnoo S.</creator><creator>Cumberland, Phillippa M.</creator><creator>Bhattacharya, Shomi</creator><creator>Simpson, Claire L.</creator><creator>Atwood, Larry D.</creator><creator>Li, Xiaohui</creator><creator>Raffel, Leslie J.</creator><creator>Murgia, Federico</creator><creator>Portas, Laura</creator><creator>Despriet, Dominiek D. G.</creator><creator>van Koolwijk, Leonieke M. E.</creator><creator>Wolfram, Christian</creator><creator>Lackner, Karl J.</creator><creator>Tönjes, Anke</creator><creator>Mägi, Reedik</creator><creator>Lehtimäki, Terho</creator><creator>Kähönen, Mika</creator><creator>Esko, Tõnu</creator><creator>Metspalu, Andres</creator><creator>Rantanen, Taina</creator><creator>Pärssinen, Olavi</creator><creator>Klein, Barbara E.</creator><creator>Meitinger, Thomas</creator><creator>Spector, Timothy D.</creator><creator>Oostra, Ben A.</creator><creator>Smith, Albert V.</creator><creator>de Jong, Paulus T. V. 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W.</creator><general>Springer-Verlag</general><general>Springer</general><general>Springer Nature B.V</general><scope>C6C</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>ISR</scope><scope>3V.</scope><scope>7QP</scope><scope>7TK</scope><scope>7TM</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20120901</creationdate><title>Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium</title><author>Verhoeven, Virginie J. M. ; Hysi, Pirro G. ; Saw, Seang-Mei ; Vitart, Veronique ; Mirshahi, Alireza ; Guggenheim, Jeremy A. ; Cotch, Mary Frances ; Yamashiro, Kenji ; Baird, Paul N. ; Mackey, David A. ; Wojciechowski, Robert ; Ikram, M. Kamran ; Hewitt, Alex W. ; Duggal, Priya ; Janmahasatian, Sarayut ; Khor, Chiea-Chuen ; Fan, Qiao ; Zhou, Xin ; Young, Terri L. ; Tai, E-Shyong ; Goh, Liang-Kee ; Li, Yi-Ju ; Aung, Tin ; Vithana, Eranga ; Teo, Yik-Ying ; Tay, Wanting ; Sim, Xueling ; Rudan, Igor ; Hayward, Caroline ; Wright, Alan F. ; Polasek, Ozren ; Campbell, Harry ; Wilson, James F. ; Fleck, Brian W. ; Nakata, Isao ; Yoshimura, Nagahisa ; Yamada, Ryo ; Matsuda, Fumihiko ; Ohno-Matsui, Kyoko ; Nag, Abhishek ; McMahon, George ; Pourcain, Beate St ; Lu, Yi ; Rahi, Jugnoo S. ; Cumberland, Phillippa M. ; Bhattacharya, Shomi ; Simpson, Claire L. ; Atwood, Larry D. ; Li, Xiaohui ; Raffel, Leslie J. ; Murgia, Federico ; Portas, Laura ; Despriet, Dominiek D. G. ; van Koolwijk, Leonieke M. E. ; Wolfram, Christian ; Lackner, Karl J. ; Tönjes, Anke ; Mägi, Reedik ; Lehtimäki, Terho ; Kähönen, Mika ; Esko, Tõnu ; Metspalu, Andres ; Rantanen, Taina ; Pärssinen, Olavi ; Klein, Barbara E. ; Meitinger, Thomas ; Spector, Timothy D. ; Oostra, Ben A. ; Smith, Albert V. ; de Jong, Paulus T. V. M. ; Hofman, Albert ; Amin, Najaf ; Karssen, Lennart C. ; Rivadeneira, Fernando ; Vingerling, Johannes R. ; Eiríksdóttir, Guðný ; Gudnason, Vilmundur ; Döring, Angela ; Bettecken, Thomas ; Uitterlinden, André G. ; Williams, Cathy ; Zeller, Tanja ; Castagné, Raphaële ; Oexle, Konrad ; van Duijn, Cornelia M. ; Iyengar, Sudha K. ; Mitchell, Paul ; Wang, Jie Jin ; Höhn, René ; Pfeiffer, Norbert ; Bailey-Wilson, Joan E. ; Stambolian, Dwight ; Wong, Tien-Yin ; Hammond, Christopher J. ; Klaver, Caroline C. W.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c604t-89b450a4471a2a2b94cd6e8f8d12a32681a6b28d3b4ed921f0e7d8b4c23f92783</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Age</topic><topic>Alleles</topic><topic>Analysis</topic><topic>Asian people</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>chromosome 15</topic><topic>Chromosomes</topic><topic>Chromosomes, Human, Pair 15</topic><topic>Consortia</topic><topic>Cream</topic><topic>Epidemiology</topic><topic>Gene Function</topic><topic>Genetic polymorphisms</topic><topic>Genomes</topic><topic>Genomics</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Meta-analysis</topic><topic>Metabolic Diseases</topic><topic>Molecular Medicine</topic><topic>Myopia</topic><topic>Myopia - genetics</topic><topic>Ophthalmology</topic><topic>Original Investigation</topic><topic>Phenotype</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Population studies</topic><topic>Regression analysis</topic><topic>Replication</topic><topic>Reviews</topic><topic>Single-nucleotide polymorphism</topic><topic>Visual impairment</topic><topic>White people</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Verhoeven, Virginie J. 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Kamran</creatorcontrib><creatorcontrib>Hewitt, Alex W.</creatorcontrib><creatorcontrib>Duggal, Priya</creatorcontrib><creatorcontrib>Janmahasatian, Sarayut</creatorcontrib><creatorcontrib>Khor, Chiea-Chuen</creatorcontrib><creatorcontrib>Fan, Qiao</creatorcontrib><creatorcontrib>Zhou, Xin</creatorcontrib><creatorcontrib>Young, Terri L.</creatorcontrib><creatorcontrib>Tai, E-Shyong</creatorcontrib><creatorcontrib>Goh, Liang-Kee</creatorcontrib><creatorcontrib>Li, Yi-Ju</creatorcontrib><creatorcontrib>Aung, Tin</creatorcontrib><creatorcontrib>Vithana, Eranga</creatorcontrib><creatorcontrib>Teo, Yik-Ying</creatorcontrib><creatorcontrib>Tay, Wanting</creatorcontrib><creatorcontrib>Sim, Xueling</creatorcontrib><creatorcontrib>Rudan, Igor</creatorcontrib><creatorcontrib>Hayward, Caroline</creatorcontrib><creatorcontrib>Wright, Alan F.</creatorcontrib><creatorcontrib>Polasek, Ozren</creatorcontrib><creatorcontrib>Campbell, Harry</creatorcontrib><creatorcontrib>Wilson, James F.</creatorcontrib><creatorcontrib>Fleck, Brian W.</creatorcontrib><creatorcontrib>Nakata, Isao</creatorcontrib><creatorcontrib>Yoshimura, Nagahisa</creatorcontrib><creatorcontrib>Yamada, Ryo</creatorcontrib><creatorcontrib>Matsuda, Fumihiko</creatorcontrib><creatorcontrib>Ohno-Matsui, Kyoko</creatorcontrib><creatorcontrib>Nag, Abhishek</creatorcontrib><creatorcontrib>McMahon, George</creatorcontrib><creatorcontrib>Pourcain, Beate St</creatorcontrib><creatorcontrib>Lu, Yi</creatorcontrib><creatorcontrib>Rahi, Jugnoo S.</creatorcontrib><creatorcontrib>Cumberland, Phillippa M.</creatorcontrib><creatorcontrib>Bhattacharya, Shomi</creatorcontrib><creatorcontrib>Simpson, Claire L.</creatorcontrib><creatorcontrib>Atwood, Larry D.</creatorcontrib><creatorcontrib>Li, Xiaohui</creatorcontrib><creatorcontrib>Raffel, Leslie J.</creatorcontrib><creatorcontrib>Murgia, Federico</creatorcontrib><creatorcontrib>Portas, Laura</creatorcontrib><creatorcontrib>Despriet, Dominiek D. 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M.</creatorcontrib><creatorcontrib>Hofman, Albert</creatorcontrib><creatorcontrib>Amin, Najaf</creatorcontrib><creatorcontrib>Karssen, Lennart C.</creatorcontrib><creatorcontrib>Rivadeneira, Fernando</creatorcontrib><creatorcontrib>Vingerling, Johannes R.</creatorcontrib><creatorcontrib>Eiríksdóttir, Guðný</creatorcontrib><creatorcontrib>Gudnason, Vilmundur</creatorcontrib><creatorcontrib>Döring, Angela</creatorcontrib><creatorcontrib>Bettecken, Thomas</creatorcontrib><creatorcontrib>Uitterlinden, André G.</creatorcontrib><creatorcontrib>Williams, Cathy</creatorcontrib><creatorcontrib>Zeller, Tanja</creatorcontrib><creatorcontrib>Castagné, Raphaële</creatorcontrib><creatorcontrib>Oexle, Konrad</creatorcontrib><creatorcontrib>van Duijn, Cornelia M.</creatorcontrib><creatorcontrib>Iyengar, Sudha K.</creatorcontrib><creatorcontrib>Mitchell, Paul</creatorcontrib><creatorcontrib>Wang, Jie Jin</creatorcontrib><creatorcontrib>Höhn, René</creatorcontrib><creatorcontrib>Pfeiffer, Norbert</creatorcontrib><creatorcontrib>Bailey-Wilson, Joan E.</creatorcontrib><creatorcontrib>Stambolian, Dwight</creatorcontrib><creatorcontrib>Wong, Tien-Yin</creatorcontrib><creatorcontrib>Hammond, Christopher J.</creatorcontrib><creatorcontrib>Klaver, Caroline C. W.</creatorcontrib><collection>Springer Nature OA Free Journals</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Verhoeven, Virginie J. M.</au><au>Hysi, Pirro G.</au><au>Saw, Seang-Mei</au><au>Vitart, Veronique</au><au>Mirshahi, Alireza</au><au>Guggenheim, Jeremy A.</au><au>Cotch, Mary Frances</au><au>Yamashiro, Kenji</au><au>Baird, Paul N.</au><au>Mackey, David A.</au><au>Wojciechowski, Robert</au><au>Ikram, M. Kamran</au><au>Hewitt, Alex W.</au><au>Duggal, Priya</au><au>Janmahasatian, Sarayut</au><au>Khor, Chiea-Chuen</au><au>Fan, Qiao</au><au>Zhou, Xin</au><au>Young, Terri L.</au><au>Tai, E-Shyong</au><au>Goh, Liang-Kee</au><au>Li, Yi-Ju</au><au>Aung, Tin</au><au>Vithana, Eranga</au><au>Teo, Yik-Ying</au><au>Tay, Wanting</au><au>Sim, Xueling</au><au>Rudan, Igor</au><au>Hayward, Caroline</au><au>Wright, Alan F.</au><au>Polasek, Ozren</au><au>Campbell, Harry</au><au>Wilson, James F.</au><au>Fleck, Brian W.</au><au>Nakata, Isao</au><au>Yoshimura, Nagahisa</au><au>Yamada, Ryo</au><au>Matsuda, Fumihiko</au><au>Ohno-Matsui, Kyoko</au><au>Nag, Abhishek</au><au>McMahon, George</au><au>Pourcain, Beate St</au><au>Lu, Yi</au><au>Rahi, Jugnoo S.</au><au>Cumberland, Phillippa M.</au><au>Bhattacharya, Shomi</au><au>Simpson, Claire L.</au><au>Atwood, Larry D.</au><au>Li, Xiaohui</au><au>Raffel, Leslie J.</au><au>Murgia, Federico</au><au>Portas, Laura</au><au>Despriet, Dominiek D. G.</au><au>van Koolwijk, Leonieke M. E.</au><au>Wolfram, Christian</au><au>Lackner, Karl J.</au><au>Tönjes, Anke</au><au>Mägi, Reedik</au><au>Lehtimäki, Terho</au><au>Kähönen, Mika</au><au>Esko, Tõnu</au><au>Metspalu, Andres</au><au>Rantanen, Taina</au><au>Pärssinen, Olavi</au><au>Klein, Barbara E.</au><au>Meitinger, Thomas</au><au>Spector, Timothy D.</au><au>Oostra, Ben A.</au><au>Smith, Albert V.</au><au>de Jong, Paulus T. V. M.</au><au>Hofman, Albert</au><au>Amin, Najaf</au><au>Karssen, Lennart C.</au><au>Rivadeneira, Fernando</au><au>Vingerling, Johannes R.</au><au>Eiríksdóttir, Guðný</au><au>Gudnason, Vilmundur</au><au>Döring, Angela</au><au>Bettecken, Thomas</au><au>Uitterlinden, André G.</au><au>Williams, Cathy</au><au>Zeller, Tanja</au><au>Castagné, Raphaële</au><au>Oexle, Konrad</au><au>van Duijn, Cornelia M.</au><au>Iyengar, Sudha K.</au><au>Mitchell, Paul</au><au>Wang, Jie Jin</au><au>Höhn, René</au><au>Pfeiffer, Norbert</au><au>Bailey-Wilson, Joan E.</au><au>Stambolian, Dwight</au><au>Wong, Tien-Yin</au><au>Hammond, Christopher J.</au><au>Klaver, Caroline C. W.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium</atitle><jtitle>Human genetics</jtitle><stitle>Hum Genet</stitle><addtitle>Hum Genet</addtitle><date>2012-09-01</date><risdate>2012</risdate><volume>131</volume><issue>9</issue><spage>1467</spage><epage>1480</epage><pages>1467-1480</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><abstract>Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on 15q25 using linear regression analysis with spherical equivalent as a quantitative outcome, adjusted for age and sex. We calculated the odds ratio (OR) of myopia versus hyperopia for carriers of the top-SNP alleles using a fixed effects meta-analysis. At locus 15q14, all SNPs were significantly replicated, with the lowest
P
value 3.87 × 10
−12
for SNP rs634990 in Caucasians, and 9.65 × 10
−4
for rs8032019 in Asians. The overall meta-analysis provided
P
value 9.20 × 10
−23
for the top SNP rs634990. The risk of myopia versus hyperopia was OR 1.88 (95 % CI 1.64, 2.16,
P
< 0.001) for homozygous carriers of the risk allele at the top SNP rs634990, and OR 1.33 (95 % CI 1.19, 1.49,
P
< 0.001) for heterozygous carriers. SNPs at locus 15q25 did not replicate significantly (
P
value 5.81 × 10
−2
for top SNP rs939661). We conclude that common variants at chromosome 15q14 influence susceptibility for myopia in Caucasian and Asian populations world-wide.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer-Verlag</pub><pmid>22665138</pmid><doi>10.1007/s00439-012-1176-0</doi><tpages>14</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0340-6717 |
| ispartof | Human genetics, 2012-09, Vol.131 (9), p.1467-1480 |
| issn | 0340-6717 1432-1203 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3418496 |
| source | MEDLINE; Springer Nature - Complete Springer Journals |
| subjects | Age Alleles Analysis Asian people Biomedical and Life Sciences Biomedicine chromosome 15 Chromosomes Chromosomes, Human, Pair 15 Consortia Cream Epidemiology Gene Function Genetic polymorphisms Genomes Genomics Human Genetics Humans Meta-analysis Metabolic Diseases Molecular Medicine Myopia Myopia - genetics Ophthalmology Original Investigation Phenotype Polymorphism, Single Nucleotide Population studies Regression analysis Replication Reviews Single-nucleotide polymorphism Visual impairment White people |
| title | Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-22T07%3A55%3A28IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Large%20scale%20international%20replication%20and%20meta-analysis%20study%20confirms%20association%20of%20the%2015q14%20locus%20with%20myopia.%20The%20CREAM%20consortium&rft.jtitle=Human%20genetics&rft.au=Verhoeven,%20Virginie%20J.%20M.&rft.date=2012-09-01&rft.volume=131&rft.issue=9&rft.spage=1467&rft.epage=1480&rft.pages=1467-1480&rft.issn=0340-6717&rft.eissn=1432-1203&rft_id=info:doi/10.1007/s00439-012-1176-0&rft_dat=%3Cgale_pubme%3EA377778412%3C/gale_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1037269891&rft_id=info:pmid/22665138&rft_galeid=A377778412&rfr_iscdi=true |