No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese population
Ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1, also known as PC-1) inhibits insulin signal transduction pathway(s). Previous studies have demonstrated the K121Q variant of the ENPP1 gene to have a significant functional role in determining susceptibility to insulin resistance and type 2...
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| Veröffentlicht in: | Journal of human genetics 2006-06, Vol.51 (6), p.559-566 |
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| creator | Keshavarz, Parvaneh Inoue, Hiroshi Sakamoto, Yukiko Kunika, Kiyoshi Tanahashi, Toshihito Nakamura, Naoto Yoshikawa, Toshikazu Yasui, Natsuo Shiota, Hiroshi Itakura, Mitsuo |
| description | Ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1, also known as PC-1) inhibits insulin signal transduction pathway(s). Previous studies have demonstrated the K121Q variant of the ENPP1 gene to have a significant functional role in determining susceptibility to insulin resistance and type 2 diabetes (T2D). To assess whether the K121Q variant has any impact on T2D in Japanese, we undertook an extensive case-control association study using a total of 911 unrelated Japanese T2D patients and 876 control subjects. No significant difference was observed in either genotype distribution (
P
=0.95) or allele frequency (
P
=0.83) between T2D and control groups. Notably, the frequency of the ancestral Q121 allele, which is also present in other primates, was quite high in African-Americans, and showed a marked ethnic variation (77.3% in African-Americans, 16.7% in European Americans, 10.5% in Japanese and 4.2% in Han Chinese). Consequently, the pairwise
F
ST
value (a classic measure of genetic distance between pairs of population) showed highly significant differentiations between African-American and non-African-American populations (
F
ST
>0.3). Our results indicated that the K121Q variant of the ENPP1 gene has very little, if any, impact on T2D susceptibility in Japanese, but may play a role in the inter-ethnic variability in insulin resistance and T2D. |
| doi_str_mv | 10.1007/s10038-006-0399-0 |
| format | Article |
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P
=0.95) or allele frequency (
P
=0.83) between T2D and control groups. Notably, the frequency of the ancestral Q121 allele, which is also present in other primates, was quite high in African-Americans, and showed a marked ethnic variation (77.3% in African-Americans, 16.7% in European Americans, 10.5% in Japanese and 4.2% in Han Chinese). Consequently, the pairwise
F
ST
value (a classic measure of genetic distance between pairs of population) showed highly significant differentiations between African-American and non-African-American populations (
F
ST
>0.3). Our results indicated that the K121Q variant of the ENPP1 gene has very little, if any, impact on T2D susceptibility in Japanese, but may play a role in the inter-ethnic variability in insulin resistance and T2D.</description><identifier>ISSN: 1434-5161</identifier><identifier>EISSN: 1435-232X</identifier><identifier>DOI: 10.1007/s10038-006-0399-0</identifier><identifier>PMID: 16607460</identifier><language>eng</language><publisher>Tokyo: Springer Japan</publisher><subject>African Americans ; African Americans - genetics ; Alleles ; Amino Acid Substitution ; Asian Continental Ancestry Group - genetics ; Biomedicine ; Case-Control Studies ; Diabetes ; Diabetes mellitus (non-insulin dependent) ; Diabetes Mellitus, Type 2 - enzymology ; Diabetes Mellitus, Type 2 - genetics ; European Continental Ancestry Group - genetics ; Female ; Gene Expression ; Gene Frequency ; Gene Function ; Gene Therapy ; Genetic distance ; Genetic Variation ; Genotypes ; Human Genetics ; Humans ; Insulin ; Insulin resistance ; Insulin Resistance - genetics ; Japan ; Male ; Molecular Medicine ; Original Article ; Phosphodiesterase ; Phosphoric Diester Hydrolases - genetics ; Pyrophosphatase ; Pyrophosphatases - genetics ; Risk Factors ; Signal transduction</subject><ispartof>Journal of human genetics, 2006-06, Vol.51 (6), p.559-566</ispartof><rights>The Japan Society of Human Genetics and Springer-Verlag 2006</rights><rights>The Japan Society of Human Genetics and Springer-Verlag 2006.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c437t-2d252ef948e01a9a0208a74dec2eec578c659d9fbbb229a5e1a6c1595e9345df3</citedby><cites>FETCH-LOGICAL-c437t-2d252ef948e01a9a0208a74dec2eec578c659d9fbbb229a5e1a6c1595e9345df3</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/s10038-006-0399-0$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10038-006-0399-0$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16607460$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Keshavarz, Parvaneh</creatorcontrib><creatorcontrib>Inoue, Hiroshi</creatorcontrib><creatorcontrib>Sakamoto, Yukiko</creatorcontrib><creatorcontrib>Kunika, Kiyoshi</creatorcontrib><creatorcontrib>Tanahashi, Toshihito</creatorcontrib><creatorcontrib>Nakamura, Naoto</creatorcontrib><creatorcontrib>Yoshikawa, Toshikazu</creatorcontrib><creatorcontrib>Yasui, Natsuo</creatorcontrib><creatorcontrib>Shiota, Hiroshi</creatorcontrib><creatorcontrib>Itakura, Mitsuo</creatorcontrib><title>No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese population</title><title>Journal of human genetics</title><addtitle>J Hum Genet</addtitle><addtitle>J Hum Genet</addtitle><description>Ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1, also known as PC-1) inhibits insulin signal transduction pathway(s). Previous studies have demonstrated the K121Q variant of the ENPP1 gene to have a significant functional role in determining susceptibility to insulin resistance and type 2 diabetes (T2D). To assess whether the K121Q variant has any impact on T2D in Japanese, we undertook an extensive case-control association study using a total of 911 unrelated Japanese T2D patients and 876 control subjects. No significant difference was observed in either genotype distribution (
P
=0.95) or allele frequency (
P
=0.83) between T2D and control groups. Notably, the frequency of the ancestral Q121 allele, which is also present in other primates, was quite high in African-Americans, and showed a marked ethnic variation (77.3% in African-Americans, 16.7% in European Americans, 10.5% in Japanese and 4.2% in Han Chinese). Consequently, the pairwise
F
ST
value (a classic measure of genetic distance between pairs of population) showed highly significant differentiations between African-American and non-African-American populations (
F
ST
>0.3). Our results indicated that the K121Q variant of the ENPP1 gene has very little, if any, impact on T2D susceptibility in Japanese, but may play a role in the inter-ethnic variability in insulin resistance and T2D.</description><subject>African Americans</subject><subject>African Americans - genetics</subject><subject>Alleles</subject><subject>Amino Acid Substitution</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Biomedicine</subject><subject>Case-Control Studies</subject><subject>Diabetes</subject><subject>Diabetes mellitus (non-insulin dependent)</subject><subject>Diabetes Mellitus, Type 2 - enzymology</subject><subject>Diabetes Mellitus, Type 2 - genetics</subject><subject>European Continental Ancestry Group - genetics</subject><subject>Female</subject><subject>Gene Expression</subject><subject>Gene Frequency</subject><subject>Gene Function</subject><subject>Gene Therapy</subject><subject>Genetic distance</subject><subject>Genetic Variation</subject><subject>Genotypes</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Insulin</subject><subject>Insulin resistance</subject><subject>Insulin Resistance - genetics</subject><subject>Japan</subject><subject>Male</subject><subject>Molecular Medicine</subject><subject>Original Article</subject><subject>Phosphodiesterase</subject><subject>Phosphoric Diester Hydrolases - genetics</subject><subject>Pyrophosphatase</subject><subject>Pyrophosphatases - genetics</subject><subject>Risk Factors</subject><subject>Signal transduction</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp1kE1Lw0AQhhdRbK3-AC8y4EUPq7ubbNI9SqmfpVZQ8BY2ycRubbNxN6n035t-QE9eZgbmmXfgIeScsxvOWHzr2xr0KWMRZYFSlB2QLg8DSUUgPg83c0glj3iHnHg_Yy0tYnFMOjyKWBxGrEv82AIuTY5lhlBYB9p7mxldG1uCLaCeIgzHkwmHq8mA8mt44YK_wVI7o8safk09BWf894ZdVQgCcqNTrNGDKUHDs650iR6hslUz3-SekqNCzz2e7XqPfNwP3wePdPT68DS4G9EsDOKailxIgYUK-8i4VpoJ1tdxmGMmEDMZ97NIqlwVaZoKobRErqOMSyVRBaHMi6BHLre5lbM_Dfo6mdnGle3LRIRCRjxmcdBSfEtlznrvsEgqZxbarRLOkrXmZKs5aTUna81t6ZGLXXKTLjDfX-y8toDYAr5dlV_o9q__T_0Dn4iFsA</recordid><startdate>20060601</startdate><enddate>20060601</enddate><creator>Keshavarz, Parvaneh</creator><creator>Inoue, Hiroshi</creator><creator>Sakamoto, Yukiko</creator><creator>Kunika, Kiyoshi</creator><creator>Tanahashi, Toshihito</creator><creator>Nakamura, Naoto</creator><creator>Yoshikawa, Toshikazu</creator><creator>Yasui, Natsuo</creator><creator>Shiota, Hiroshi</creator><creator>Itakura, Mitsuo</creator><general>Springer Japan</general><general>Nature Publishing Group</general><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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</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>RC3</scope></search><sort><creationdate>20060601</creationdate><title>No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese population</title><author>Keshavarz, Parvaneh ; Inoue, Hiroshi ; Sakamoto, Yukiko ; Kunika, Kiyoshi ; Tanahashi, Toshihito ; Nakamura, Naoto ; Yoshikawa, Toshikazu ; Yasui, Natsuo ; Shiota, Hiroshi ; Itakura, Mitsuo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c437t-2d252ef948e01a9a0208a74dec2eec578c659d9fbbb229a5e1a6c1595e9345df3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>African Americans</topic><topic>African Americans - 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Previous studies have demonstrated the K121Q variant of the ENPP1 gene to have a significant functional role in determining susceptibility to insulin resistance and type 2 diabetes (T2D). To assess whether the K121Q variant has any impact on T2D in Japanese, we undertook an extensive case-control association study using a total of 911 unrelated Japanese T2D patients and 876 control subjects. No significant difference was observed in either genotype distribution (
P
=0.95) or allele frequency (
P
=0.83) between T2D and control groups. Notably, the frequency of the ancestral Q121 allele, which is also present in other primates, was quite high in African-Americans, and showed a marked ethnic variation (77.3% in African-Americans, 16.7% in European Americans, 10.5% in Japanese and 4.2% in Han Chinese). Consequently, the pairwise
F
ST
value (a classic measure of genetic distance between pairs of population) showed highly significant differentiations between African-American and non-African-American populations (
F
ST
>0.3). Our results indicated that the K121Q variant of the ENPP1 gene has very little, if any, impact on T2D susceptibility in Japanese, but may play a role in the inter-ethnic variability in insulin resistance and T2D.</abstract><cop>Tokyo</cop><pub>Springer Japan</pub><pmid>16607460</pmid><doi>10.1007/s10038-006-0399-0</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Journal of human genetics, 2006-06, Vol.51 (6), p.559-566 |
| issn | 1434-5161 1435-232X |
| language | eng |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; SpringerLink Journals - AutoHoldings |
| subjects | African Americans African Americans - genetics Alleles Amino Acid Substitution Asian Continental Ancestry Group - genetics Biomedicine Case-Control Studies Diabetes Diabetes mellitus (non-insulin dependent) Diabetes Mellitus, Type 2 - enzymology Diabetes Mellitus, Type 2 - genetics European Continental Ancestry Group - genetics Female Gene Expression Gene Frequency Gene Function Gene Therapy Genetic distance Genetic Variation Genotypes Human Genetics Humans Insulin Insulin resistance Insulin Resistance - genetics Japan Male Molecular Medicine Original Article Phosphodiesterase Phosphoric Diester Hydrolases - genetics Pyrophosphatase Pyrophosphatases - genetics Risk Factors Signal transduction |
| title | No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese population |
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