{"title":"FTO 基因多态性与肥胖及其相关表型的遗传关联：病例对照研究","authors":"Tanmayi Sharma, Badaruddoza Badaruddoza","doi":"10.34172/jcvtr.33038","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong><i>FTO</i> gene belongs to the non-heme Fe (II) and 2 oxoglutarate-dependent dioxygenase superfamily. Polymorphisms within the first intron of the <i>FTO</i> gene have been examined across various populations, yielding disparate findings.The present study aimed to determine the impact of two intronic polymorphisms <i>FTO</i> 30685T/G (rs17817449) and -23525T/A (rs9939609) on the risk of obesity in Punjab, India.</p><p><strong>Methods: </strong>Genotypic and biochemical analysis were done for 671 unrelated participants (obese=333 and non-obese=338) (age≥18 years). Genotyping of the polymorphisms was done by PCR-RFLP method. However, 50% of the samples were sequenced by Sanger sequencing.</p><p><strong>Results: </strong>Both the <i>FTO</i> variants 30685 (TT vs GG: odds ratio (OR), 2.30; 95% confidence interval (CI), 1.39-3.79) and -23525 (TT vs AA: odds ratio (OR), 2.78; 95% confidence interval (CI), 1.37-5.64) showed substantial risk towards obesity by conferring it 2 times and 3 times, respectively. The analysis by logistic regression showed a significant association for both the variants 30685T/G (rs17817449) and -23525T/A (rs9939609) (OR=2.29; 95%CI: 1.47-3.57) and (OR=5.25; 95% CI: 2.68-10.28) under the recessive genetic model, respectively. The haplotype combination TA (30685; -23525) develops a 4 times risk for obesity (<i>P</i>=0.0001). Among obese, the G allele of 30685T/G and A- allele of -23525T/A showed variance in Body mass index (BMI), waist circumference (WC), waist-to-height ratio(WHtR), systolic blood pressure (SBP), diastolic blood pressure (DBP) and triglyceride(TG).</p><p><strong>Conclusion: </strong>The present investigation indicated that both the <i>FTO</i> 30685T/G (rs17817449) and -23525T/A (rs9939609) polymorphisms have a key impact on an individual's vulnerability to obesity in this population.</p>","PeriodicalId":1,"journal":{"name":"Accounts of Chemical Research","volume":null,"pages":null},"PeriodicalIF":16.4000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380751/pdf/","citationCount":"0","resultStr":"{\"title\":\"Genetic association of <i>FTO</i> gene polymorphisms with obesity and its related phenotypes: A case-control study.\",\"authors\":\"Tanmayi Sharma, Badaruddoza Badaruddoza\",\"doi\":\"10.34172/jcvtr.33038\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong><i>FTO</i> gene belongs to the non-heme Fe (II) and 2 oxoglutarate-dependent dioxygenase superfamily. Polymorphisms within the first intron of the <i>FTO</i> gene have been examined across various populations, yielding disparate findings.The present study aimed to determine the impact of two intronic polymorphisms <i>FTO</i> 30685T/G (rs17817449) and -23525T/A (rs9939609) on the risk of obesity in Punjab, India.</p><p><strong>Methods: </strong>Genotypic and biochemical analysis were done for 671 unrelated participants (obese=333 and non-obese=338) (age≥18 years). Genotyping of the polymorphisms was done by PCR-RFLP method. However, 50% of the samples were sequenced by Sanger sequencing.</p><p><strong>Results: </strong>Both the <i>FTO</i> variants 30685 (TT vs GG: odds ratio (OR), 2.30; 95% confidence interval (CI), 1.39-3.79) and -23525 (TT vs AA: odds ratio (OR), 2.78; 95% confidence interval (CI), 1.37-5.64) showed substantial risk towards obesity by conferring it 2 times and 3 times, respectively. The analysis by logistic regression showed a significant association for both the variants 30685T/G (rs17817449) and -23525T/A (rs9939609) (OR=2.29; 95%CI: 1.47-3.57) and (OR=5.25; 95% CI: 2.68-10.28) under the recessive genetic model, respectively. The haplotype combination TA (30685; -23525) develops a 4 times risk for obesity (<i>P</i>=0.0001). Among obese, the G allele of 30685T/G and A- allele of -23525T/A showed variance in Body mass index (BMI), waist circumference (WC), waist-to-height ratio(WHtR), systolic blood pressure (SBP), diastolic blood pressure (DBP) and triglyceride(TG).</p><p><strong>Conclusion: </strong>The present investigation indicated that both the <i>FTO</i> 30685T/G (rs17817449) and -23525T/A (rs9939609) polymorphisms have a key impact on an individual's vulnerability to obesity in this population.</p>\",\"PeriodicalId\":1,\"journal\":{\"name\":\"Accounts of Chemical Research\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":16.4000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380751/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Accounts of Chemical Research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.34172/jcvtr.33038\",\"RegionNum\":1,\"RegionCategory\":\"化学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/6/25 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q1\",\"JCRName\":\"CHEMISTRY, MULTIDISCIPLINARY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Accounts of Chemical Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.34172/jcvtr.33038","RegionNum":1,"RegionCategory":"化学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/6/25 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"CHEMISTRY, MULTIDISCIPLINARY","Score":null,"Total":0}
引用次数: 0
摘要
简介FTO 基因属于非血红素铁（II）和 2-氧化戊二酸依赖性二加氧酶超家族。本研究旨在确定 FTO 30685T/G (rs17817449) 和 -23525T/A (rs9939609) 这两个内含子多态性对印度旁遮普省肥胖风险的影响：对 671 名无亲属关系的参与者（肥胖者=333 人，非肥胖者=338 人）（年龄≥18 岁）进行了基因型和生化分析。多态性基因分型采用 PCR-RFLP 方法。然而，50%的样本通过桑格测序法进行了测序：结果：FTO变异体30685（TT vs GG：几率比（OR），2.30；95%置信区间（CI），1.39-3.79）和-23525（TT vs AA：几率比（OR），2.78；95%置信区间（CI），1.37-5.64）都显示出肥胖的巨大风险，分别增加了2倍和3倍。逻辑回归分析表明，在隐性遗传模式下，30685T/G（rs17817449）和-23525T/A（rs9939609）变异（OR=2.29；95%CI：1.47-3.57）和（OR=5.25；95%CI：2.68-10.28）分别与肥胖有显著关联。单倍型组合 TA (30685; -23525)导致肥胖的风险增加了 4 倍（P=0.0001）。在肥胖者中，30685T/G 的 G 等位基因和 -23525T/A 的 A 等位基因在体质指数（BMI）、腰围（WC）、腰高比（WHtR）、收缩压（SBP）、舒张压（DBP）和甘油三酯（TG）方面存在差异：本研究表明，FTO 30685T/G（rs17817449）和-23525T/A（rs9939609）多态性对该人群的肥胖易感性有重要影响。
Genetic association of FTO gene polymorphisms with obesity and its related phenotypes: A case-control study.
Introduction: FTO gene belongs to the non-heme Fe (II) and 2 oxoglutarate-dependent dioxygenase superfamily. Polymorphisms within the first intron of the FTO gene have been examined across various populations, yielding disparate findings.The present study aimed to determine the impact of two intronic polymorphisms FTO 30685T/G (rs17817449) and -23525T/A (rs9939609) on the risk of obesity in Punjab, India.
Methods: Genotypic and biochemical analysis were done for 671 unrelated participants (obese=333 and non-obese=338) (age≥18 years). Genotyping of the polymorphisms was done by PCR-RFLP method. However, 50% of the samples were sequenced by Sanger sequencing.
Results: Both the FTO variants 30685 (TT vs GG: odds ratio (OR), 2.30; 95% confidence interval (CI), 1.39-3.79) and -23525 (TT vs AA: odds ratio (OR), 2.78; 95% confidence interval (CI), 1.37-5.64) showed substantial risk towards obesity by conferring it 2 times and 3 times, respectively. The analysis by logistic regression showed a significant association for both the variants 30685T/G (rs17817449) and -23525T/A (rs9939609) (OR=2.29; 95%CI: 1.47-3.57) and (OR=5.25; 95% CI: 2.68-10.28) under the recessive genetic model, respectively. The haplotype combination TA (30685; -23525) develops a 4 times risk for obesity (P=0.0001). Among obese, the G allele of 30685T/G and A- allele of -23525T/A showed variance in Body mass index (BMI), waist circumference (WC), waist-to-height ratio(WHtR), systolic blood pressure (SBP), diastolic blood pressure (DBP) and triglyceride(TG).
Conclusion: The present investigation indicated that both the FTO 30685T/G (rs17817449) and -23525T/A (rs9939609) polymorphisms have a key impact on an individual's vulnerability to obesity in this population.
期刊介绍：
Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance.
Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.
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