Association of COL1A1 and TGFB1 Polymorphisms with Otosclerosis in a Tunisian Population
Summary Otosclerosis is a condition characterized by an abnormal bone metabolism in the otic capsule, resulting in conductive and/or sensorineural hearing loss. Otosclerosis is a common disorder in which genes play an important role. Case‐control association studies have implicated several genes in...
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| Veröffentlicht in: | Annals of human genetics 2011-09, Vol.75 (5), p.598-604 |
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| creator | Khalfallah, Ayda Schrauwen, Isabelle Mnejja, Malek HadjKacem, Hassen Dhouib, Leila Mosrati, Mohamed Ali Hakim, Bochra Lahmar, Imed Charfeddine, Ilhem Driss, Nabil Ayadi, Hammadi Ghorbel, Abdelmonem Van Camp, Guy Masmoudi, Saber |
| description | Summary
Otosclerosis is a condition characterized by an abnormal bone metabolism in the otic capsule, resulting in conductive and/or sensorineural hearing loss. Otosclerosis is a common disorder in which genes play an important role. Case‐control association studies have implicated several genes in the abnormal bone metabolism associated with otosclerosis: COL1A1, TGFB1, BMP2, and BMP4. To investigate the association of these genes with otosclerosis in the Tunisian population, we examined nine single nucleotide polymorphisms (SNPs) in 159 unrelated otosclerosis patients and 155 unrelated controls. We found an association of rs11327935 in COL1A1 with otosclerosis that was shown to be sex specific. The coding polymorphism T263I in TGFB1 was also associated with otosclerosis in the Tunisian population. The effect sizes of both the associations were consistent with previous studies, as the same effect was found in all cases. The association of BMP2 and BMP4 was not significant. However, a trend towards association was found for the BMP4 gene that was consistent with earlier reports. In conclusion, this study replicates and strengthens the evidence for association between polymorphisms of COL1A1 and TGFB1 in the genetic aetiology of otosclerosis. |
| doi_str_mv | 10.1111/j.1469-1809.2011.00665.x |
| format | Article |
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Otosclerosis is a condition characterized by an abnormal bone metabolism in the otic capsule, resulting in conductive and/or sensorineural hearing loss. Otosclerosis is a common disorder in which genes play an important role. Case‐control association studies have implicated several genes in the abnormal bone metabolism associated with otosclerosis: COL1A1, TGFB1, BMP2, and BMP4. To investigate the association of these genes with otosclerosis in the Tunisian population, we examined nine single nucleotide polymorphisms (SNPs) in 159 unrelated otosclerosis patients and 155 unrelated controls. We found an association of rs11327935 in COL1A1 with otosclerosis that was shown to be sex specific. The coding polymorphism T263I in TGFB1 was also associated with otosclerosis in the Tunisian population. The effect sizes of both the associations were consistent with previous studies, as the same effect was found in all cases. The association of BMP2 and BMP4 was not significant. However, a trend towards association was found for the BMP4 gene that was consistent with earlier reports. In conclusion, this study replicates and strengthens the evidence for association between polymorphisms of COL1A1 and TGFB1 in the genetic aetiology of otosclerosis.</description><identifier>ISSN: 0003-4800</identifier><identifier>EISSN: 1469-1809</identifier><identifier>DOI: 10.1111/j.1469-1809.2011.00665.x</identifier><identifier>PMID: 21777208</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Adult ; Aged ; Bone morphogenetic protein 2 ; Bone morphogenetic protein 4 ; Bone turnover ; case‐control study ; Collagen (type I) ; Collagen Type I - genetics ; Female ; Gene polymorphism ; genetic ; Hearing loss ; Humans ; Male ; Meta‐analysis ; Middle Aged ; otosclerosis ; Otosclerosis - genetics ; Polymorphism, Single Nucleotide ; Sex ; Single-nucleotide polymorphism ; Transforming Growth Factor beta1 - genetics ; Transforming growth factor- beta 1 ; Tunisia</subject><ispartof>Annals of human genetics, 2011-09, Vol.75 (5), p.598-604</ispartof><rights>2011 The Authors
Annals of Human Genetics © 2011 Blackwell Publishing Ltd/University College London</rights><rights>2011 The Authors Annals of Human Genetics © 2011 Blackwell Publishing Ltd/University College London.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4005-1c5fc6f8bc0b7465345961bbec484fa37e946bb64bbc426b13a3784a7233f1f03</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1469-1809.2011.00665.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1469-1809.2011.00665.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,1433,27924,27925,45574,45575,46409,46833</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21777208$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Khalfallah, Ayda</creatorcontrib><creatorcontrib>Schrauwen, Isabelle</creatorcontrib><creatorcontrib>Mnejja, Malek</creatorcontrib><creatorcontrib>HadjKacem, Hassen</creatorcontrib><creatorcontrib>Dhouib, Leila</creatorcontrib><creatorcontrib>Mosrati, Mohamed Ali</creatorcontrib><creatorcontrib>Hakim, Bochra</creatorcontrib><creatorcontrib>Lahmar, Imed</creatorcontrib><creatorcontrib>Charfeddine, Ilhem</creatorcontrib><creatorcontrib>Driss, Nabil</creatorcontrib><creatorcontrib>Ayadi, Hammadi</creatorcontrib><creatorcontrib>Ghorbel, Abdelmonem</creatorcontrib><creatorcontrib>Van Camp, Guy</creatorcontrib><creatorcontrib>Masmoudi, Saber</creatorcontrib><title>Association of COL1A1 and TGFB1 Polymorphisms with Otosclerosis in a Tunisian Population</title><title>Annals of human genetics</title><addtitle>Ann Hum Genet</addtitle><description>Summary
Otosclerosis is a condition characterized by an abnormal bone metabolism in the otic capsule, resulting in conductive and/or sensorineural hearing loss. Otosclerosis is a common disorder in which genes play an important role. Case‐control association studies have implicated several genes in the abnormal bone metabolism associated with otosclerosis: COL1A1, TGFB1, BMP2, and BMP4. To investigate the association of these genes with otosclerosis in the Tunisian population, we examined nine single nucleotide polymorphisms (SNPs) in 159 unrelated otosclerosis patients and 155 unrelated controls. We found an association of rs11327935 in COL1A1 with otosclerosis that was shown to be sex specific. The coding polymorphism T263I in TGFB1 was also associated with otosclerosis in the Tunisian population. The effect sizes of both the associations were consistent with previous studies, as the same effect was found in all cases. The association of BMP2 and BMP4 was not significant. However, a trend towards association was found for the BMP4 gene that was consistent with earlier reports. In conclusion, this study replicates and strengthens the evidence for association between polymorphisms of COL1A1 and TGFB1 in the genetic aetiology of otosclerosis.</description><subject>Adult</subject><subject>Aged</subject><subject>Bone morphogenetic protein 2</subject><subject>Bone morphogenetic protein 4</subject><subject>Bone turnover</subject><subject>case‐control study</subject><subject>Collagen (type I)</subject><subject>Collagen Type I - genetics</subject><subject>Female</subject><subject>Gene polymorphism</subject><subject>genetic</subject><subject>Hearing loss</subject><subject>Humans</subject><subject>Male</subject><subject>Meta‐analysis</subject><subject>Middle Aged</subject><subject>otosclerosis</subject><subject>Otosclerosis - genetics</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Sex</subject><subject>Single-nucleotide polymorphism</subject><subject>Transforming Growth Factor beta1 - genetics</subject><subject>Transforming growth factor- beta 1</subject><subject>Tunisia</subject><issn>0003-4800</issn><issn>1469-1809</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU1r4zAQQEXZ0qQff6Hotid7ZyxZkmEv2dCmhUD2kEJvQlJlomBbWSsmzb9fp832ugPDDDOPOcwjhCLkOMaPbY5cVBkqqPICEHMAIcr8_YJMvxbfyBQAWMYVwIRcp7QFwEJxdkUmBUopC1BT8jpLKbpg9iF2NNZ0vlriDKnp3uh68fgL6e_YHNvY7zYhtYkewn5DV_uYXOP7mEKioaOGrocupGC6kd4NzcexW3JZmyb5u3O9IS-PD-v5U7ZcLZ7ns2XmOECZoStrJ2plHVjJRcl4WQm01juueG2Y9BUX1gpureOFsMjGmeJGFozVWAO7Id8_7-76-Gfwaa_bkJxvGtP5OCRdIcgxQf6XVIox5JJVI3l_Jgfb-je960Nr-qP-97YR-PkJHELjj197BH3So7f6ZEGfLOiTHv2hR7_r2dNibNhfPaiBJg</recordid><startdate>201109</startdate><enddate>201109</enddate><creator>Khalfallah, Ayda</creator><creator>Schrauwen, Isabelle</creator><creator>Mnejja, Malek</creator><creator>HadjKacem, Hassen</creator><creator>Dhouib, Leila</creator><creator>Mosrati, Mohamed Ali</creator><creator>Hakim, Bochra</creator><creator>Lahmar, Imed</creator><creator>Charfeddine, Ilhem</creator><creator>Driss, Nabil</creator><creator>Ayadi, Hammadi</creator><creator>Ghorbel, Abdelmonem</creator><creator>Van Camp, Guy</creator><creator>Masmoudi, Saber</creator><general>Blackwell Publishing Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>201109</creationdate><title>Association of COL1A1 and TGFB1 Polymorphisms with Otosclerosis in a Tunisian Population</title><author>Khalfallah, Ayda ; Schrauwen, Isabelle ; Mnejja, Malek ; HadjKacem, Hassen ; Dhouib, Leila ; Mosrati, Mohamed Ali ; Hakim, Bochra ; Lahmar, Imed ; Charfeddine, Ilhem ; Driss, Nabil ; Ayadi, Hammadi ; Ghorbel, Abdelmonem ; Van Camp, Guy ; Masmoudi, Saber</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4005-1c5fc6f8bc0b7465345961bbec484fa37e946bb64bbc426b13a3784a7233f1f03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Bone morphogenetic protein 2</topic><topic>Bone morphogenetic protein 4</topic><topic>Bone turnover</topic><topic>case‐control study</topic><topic>Collagen (type I)</topic><topic>Collagen Type I - genetics</topic><topic>Female</topic><topic>Gene polymorphism</topic><topic>genetic</topic><topic>Hearing loss</topic><topic>Humans</topic><topic>Male</topic><topic>Meta‐analysis</topic><topic>Middle Aged</topic><topic>otosclerosis</topic><topic>Otosclerosis - genetics</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Sex</topic><topic>Single-nucleotide polymorphism</topic><topic>Transforming Growth Factor beta1 - genetics</topic><topic>Transforming growth factor- beta 1</topic><topic>Tunisia</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Khalfallah, Ayda</creatorcontrib><creatorcontrib>Schrauwen, Isabelle</creatorcontrib><creatorcontrib>Mnejja, Malek</creatorcontrib><creatorcontrib>HadjKacem, Hassen</creatorcontrib><creatorcontrib>Dhouib, Leila</creatorcontrib><creatorcontrib>Mosrati, Mohamed Ali</creatorcontrib><creatorcontrib>Hakim, Bochra</creatorcontrib><creatorcontrib>Lahmar, Imed</creatorcontrib><creatorcontrib>Charfeddine, Ilhem</creatorcontrib><creatorcontrib>Driss, Nabil</creatorcontrib><creatorcontrib>Ayadi, Hammadi</creatorcontrib><creatorcontrib>Ghorbel, Abdelmonem</creatorcontrib><creatorcontrib>Van Camp, Guy</creatorcontrib><creatorcontrib>Masmoudi, Saber</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Annals of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Khalfallah, Ayda</au><au>Schrauwen, Isabelle</au><au>Mnejja, Malek</au><au>HadjKacem, Hassen</au><au>Dhouib, Leila</au><au>Mosrati, Mohamed Ali</au><au>Hakim, Bochra</au><au>Lahmar, Imed</au><au>Charfeddine, Ilhem</au><au>Driss, Nabil</au><au>Ayadi, Hammadi</au><au>Ghorbel, Abdelmonem</au><au>Van Camp, Guy</au><au>Masmoudi, Saber</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association of COL1A1 and TGFB1 Polymorphisms with Otosclerosis in a Tunisian Population</atitle><jtitle>Annals of human genetics</jtitle><addtitle>Ann Hum Genet</addtitle><date>2011-09</date><risdate>2011</risdate><volume>75</volume><issue>5</issue><spage>598</spage><epage>604</epage><pages>598-604</pages><issn>0003-4800</issn><eissn>1469-1809</eissn><abstract>Summary
Otosclerosis is a condition characterized by an abnormal bone metabolism in the otic capsule, resulting in conductive and/or sensorineural hearing loss. Otosclerosis is a common disorder in which genes play an important role. Case‐control association studies have implicated several genes in the abnormal bone metabolism associated with otosclerosis: COL1A1, TGFB1, BMP2, and BMP4. To investigate the association of these genes with otosclerosis in the Tunisian population, we examined nine single nucleotide polymorphisms (SNPs) in 159 unrelated otosclerosis patients and 155 unrelated controls. We found an association of rs11327935 in COL1A1 with otosclerosis that was shown to be sex specific. The coding polymorphism T263I in TGFB1 was also associated with otosclerosis in the Tunisian population. The effect sizes of both the associations were consistent with previous studies, as the same effect was found in all cases. The association of BMP2 and BMP4 was not significant. However, a trend towards association was found for the BMP4 gene that was consistent with earlier reports. In conclusion, this study replicates and strengthens the evidence for association between polymorphisms of COL1A1 and TGFB1 in the genetic aetiology of otosclerosis.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>21777208</pmid><doi>10.1111/j.1469-1809.2011.00665.x</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Aged Bone morphogenetic protein 2 Bone morphogenetic protein 4 Bone turnover case‐control study Collagen (type I) Collagen Type I - genetics Female Gene polymorphism genetic Hearing loss Humans Male Meta‐analysis Middle Aged otosclerosis Otosclerosis - genetics Polymorphism, Single Nucleotide Sex Single-nucleotide polymorphism Transforming Growth Factor beta1 - genetics Transforming growth factor- beta 1 Tunisia |
| title | Association of COL1A1 and TGFB1 Polymorphisms with Otosclerosis in a Tunisian Population |
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