{"title":"全基因组关联研究(GWAS)在巴基斯坦普什图人群中鉴定的2型糖尿病风险变异的验证","authors":"Asif Jan, Zakiullah, Fazli Khuda, Rani Akbar","doi":"10.15605/jafes.037.S5","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>Recent GWAS largely conducted in European populations have successfully identified multiple genetic risk variants associated with Type 2 Diabetes Mellitus (T2DM). However, the effects conferred by these variants in the Pakistani population have not yet been fully elucidated. The objective of this study was to examine European GWAS-identified T2DM risk variants in the Pakistani Pashtun population to better understand the shared genetic basis of T2DM in the European and Pakistani cohorts.</p><p><strong>Methodology: </strong>A total of 100 T2DM patients and 100 healthy volunteers of Pashtun ethnicity were enrolled in this study. Both groups were genotyped for 8 selected single nucleotide polymorphisms (SNPs) using the Sequenom MassARRAY<sup>®</sup> platform. The association between selected SNPs and T2DM was determined by using appropriate statistical tests.</p><p><strong>Results: </strong>Of the 8 studied SNPs, 5 SNPs, <i>SLC30A8</i>/ rs13266634 (<i>p</i>=0.031, OR=2.13), <i>IGF2BP2</i>/ rs4402960 (<i>p</i>=0.001, OR=3.01), <i>KCNJ11</i>/ rs5219 (<i>p</i>=0.042, OR=1.78), <i>PPARG</i>/ rs1801282 (<i>p</i>=0.042, OR=2.81) and <i>TCF7L2</i>/ rs7903146 (<i>p</i>=0.00006, 3.41) had a significant association with T2DM. SNP <i>GLIS3</i>/ rs7041847 (<i>p</i>=0.051, OR=2.01) showed no sufficient evidence of association. SNPs <i>KCNQ1</i>/ rs2237892 (<i>p</i>=0.140, OR=1.61) and <i>HHEX/IDE</i>/ s1111875 (<i>p</i>=0.112, OR=1.31) showed opposite allelic effects and were not validated for T2DM risk in the study population. Among the studied SNPs, <i>TCF7L2</i>/ rs7903146 showed the most significant association.</p><p><strong>Conclusion: </strong>Our study finding indicates that selected genome-wide significant T2DM risk variants previously identified in European descent also increase the risk of developing T2DM in the Pakistani Pashtun population.</p>","PeriodicalId":41792,"journal":{"name":"Journal of the ASEAN Federation of Endocrine Societies","volume":"38 1","pages":"55-61"},"PeriodicalIF":0.6000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e7/36/JAFES-38-S1-55.PMC10207868.pdf","citationCount":"1","resultStr":"{\"title\":\"Validation of Genome-Wide Association Studies (GWAS)-Identified Type 2 Diabetes Mellitus Risk Variants in Pakistani Pashtun Population.\",\"authors\":\"Asif Jan, Zakiullah, Fazli Khuda, Rani Akbar\",\"doi\":\"10.15605/jafes.037.S5\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>Recent GWAS largely conducted in European populations have successfully identified multiple genetic risk variants associated with Type 2 Diabetes Mellitus (T2DM). However, the effects conferred by these variants in the Pakistani population have not yet been fully elucidated. The objective of this study was to examine European GWAS-identified T2DM risk variants in the Pakistani Pashtun population to better understand the shared genetic basis of T2DM in the European and Pakistani cohorts.</p><p><strong>Methodology: </strong>A total of 100 T2DM patients and 100 healthy volunteers of Pashtun ethnicity were enrolled in this study. Both groups were genotyped for 8 selected single nucleotide polymorphisms (SNPs) using the Sequenom MassARRAY<sup>®</sup> platform. The association between selected SNPs and T2DM was determined by using appropriate statistical tests.</p><p><strong>Results: </strong>Of the 8 studied SNPs, 5 SNPs, <i>SLC30A8</i>/ rs13266634 (<i>p</i>=0.031, OR=2.13), <i>IGF2BP2</i>/ rs4402960 (<i>p</i>=0.001, OR=3.01), <i>KCNJ11</i>/ rs5219 (<i>p</i>=0.042, OR=1.78), <i>PPARG</i>/ rs1801282 (<i>p</i>=0.042, OR=2.81) and <i>TCF7L2</i>/ rs7903146 (<i>p</i>=0.00006, 3.41) had a significant association with T2DM. SNP <i>GLIS3</i>/ rs7041847 (<i>p</i>=0.051, OR=2.01) showed no sufficient evidence of association. SNPs <i>KCNQ1</i>/ rs2237892 (<i>p</i>=0.140, OR=1.61) and <i>HHEX/IDE</i>/ s1111875 (<i>p</i>=0.112, OR=1.31) showed opposite allelic effects and were not validated for T2DM risk in the study population. Among the studied SNPs, <i>TCF7L2</i>/ rs7903146 showed the most significant association.</p><p><strong>Conclusion: </strong>Our study finding indicates that selected genome-wide significant T2DM risk variants previously identified in European descent also increase the risk of developing T2DM in the Pakistani Pashtun population.</p>\",\"PeriodicalId\":41792,\"journal\":{\"name\":\"Journal of the ASEAN Federation of Endocrine Societies\",\"volume\":\"38 1\",\"pages\":\"55-61\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e7/36/JAFES-38-S1-55.PMC10207868.pdf\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of the ASEAN Federation of Endocrine Societies\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15605/jafes.037.S5\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of the ASEAN Federation of Endocrine Societies","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15605/jafes.037.S5","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Validation of Genome-Wide Association Studies (GWAS)-Identified Type 2 Diabetes Mellitus Risk Variants in Pakistani Pashtun Population.
Objective: Recent GWAS largely conducted in European populations have successfully identified multiple genetic risk variants associated with Type 2 Diabetes Mellitus (T2DM). However, the effects conferred by these variants in the Pakistani population have not yet been fully elucidated. The objective of this study was to examine European GWAS-identified T2DM risk variants in the Pakistani Pashtun population to better understand the shared genetic basis of T2DM in the European and Pakistani cohorts.
Methodology: A total of 100 T2DM patients and 100 healthy volunteers of Pashtun ethnicity were enrolled in this study. Both groups were genotyped for 8 selected single nucleotide polymorphisms (SNPs) using the Sequenom MassARRAY® platform. The association between selected SNPs and T2DM was determined by using appropriate statistical tests.
Results: Of the 8 studied SNPs, 5 SNPs, SLC30A8/ rs13266634 (p=0.031, OR=2.13), IGF2BP2/ rs4402960 (p=0.001, OR=3.01), KCNJ11/ rs5219 (p=0.042, OR=1.78), PPARG/ rs1801282 (p=0.042, OR=2.81) and TCF7L2/ rs7903146 (p=0.00006, 3.41) had a significant association with T2DM. SNP GLIS3/ rs7041847 (p=0.051, OR=2.01) showed no sufficient evidence of association. SNPs KCNQ1/ rs2237892 (p=0.140, OR=1.61) and HHEX/IDE/ s1111875 (p=0.112, OR=1.31) showed opposite allelic effects and were not validated for T2DM risk in the study population. Among the studied SNPs, TCF7L2/ rs7903146 showed the most significant association.
Conclusion: Our study finding indicates that selected genome-wide significant T2DM risk variants previously identified in European descent also increase the risk of developing T2DM in the Pakistani Pashtun population.
期刊介绍：
The Journal of the ASEAN Federation of Endocrine Societies (JAFES) is an OPEN ACCESS, internationally peer-reviewed, English language, medical and health science journal that is published in print two times a year by the ASEAN Federation of Endocrine Societies. It shall serve as the endocrine window between the ASEAN region and the world, featuring original papers and publishing key findings from specialists and experts of endocrinology.
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