{"title":"脂联素基因多态性与2型糖尿病:显性、隐性和等位基因模型的遗传风险对比——一项最新的荟萃分析","authors":"Santhini Gopalakrishnan , Santhi Priya Sobha , Karpagavel Lakshmanan","doi":"10.1016/j.humgen.2025.201463","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div>Type 2 Diabetes Mellitus (T2DM) is a metabolic disorder and adipokines such as adiponectin plays a crucial role in the development of T2DM. Adiponectin is encoded by APM1/ADIPOQ gene and polymorphism has been associated with T2DM. The present study aims to determine the overall effect of major SNP of adiponectin gene with T2DM risk.</div></div><div><h3>Methods</h3><div>A through literature search was conducted to identify suitable studies and data was extracted. The association of SNP with T2DM was determined using odds ratio (OR) with 95 % C.I.</div></div><div><h3>Result</h3><div>Allele contrast and recessive model of rs16861194(−11426 A > G), rs266729(−1137C > G), rs2241766(+45 T > G), rs17300539(−11,391 G > A) and rs822396(−3971 G > A) genotype of the APM1/ADIPOQ gene was associated with reduced T2DM risk. The African and Asian population subgroup demonstrated lower T2DM risk under allele contrast and recessive model of rs16861194 and rs2241766 while Caucasian was associated with reduced risk in recessive model of rs266729. The rs822396 variant demonstrated lower risk under allele contrast and recessive model in Asian subgroup. The rs2241767(+346 A > G) polymorphism was associated with reduced T2DM risk under allele contrast and in subgroup analysis only African population showed significant association. In contrast, the over dominant model was associated with increased T2DM risk in rs16861194, rs266729, rs182052, rs2241766, rs17300539 and rs822396. The African and Asian ethnicity demonstrated an increased risk in over dominant model with rs16861194 and rs2241766 while Asian ethnicity showed significant association under over dominant model in rs182052 and rs822396. The rs3774261(+712 A > G) and rs1501299(+276G > T) showed no association with T2DM risk.</div></div><div><h3>Conclusion</h3><div>The major polymorphism of adiponectin showed increased risk under overdominant model while showed a reduced risk under allele and recessive genetic model.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201463"},"PeriodicalIF":0.7000,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Adiponectin gene polymorphism and TyPE 2 diabetes MellitUS: Contrasting genetic RISKS in overdominant vs recessive and allele models – an updated meta – analysis\",\"authors\":\"Santhini Gopalakrishnan , Santhi Priya Sobha , Karpagavel Lakshmanan\",\"doi\":\"10.1016/j.humgen.2025.201463\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><div>Type 2 Diabetes Mellitus (T2DM) is a metabolic disorder and adipokines such as adiponectin plays a crucial role in the development of T2DM. Adiponectin is encoded by APM1/ADIPOQ gene and polymorphism has been associated with T2DM. The present study aims to determine the overall effect of major SNP of adiponectin gene with T2DM risk.</div></div><div><h3>Methods</h3><div>A through literature search was conducted to identify suitable studies and data was extracted. The association of SNP with T2DM was determined using odds ratio (OR) with 95 % C.I.</div></div><div><h3>Result</h3><div>Allele contrast and recessive model of rs16861194(−11426 A > G), rs266729(−1137C > G), rs2241766(+45 T > G), rs17300539(−11,391 G > A) and rs822396(−3971 G > A) genotype of the APM1/ADIPOQ gene was associated with reduced T2DM risk. The African and Asian population subgroup demonstrated lower T2DM risk under allele contrast and recessive model of rs16861194 and rs2241766 while Caucasian was associated with reduced risk in recessive model of rs266729. The rs822396 variant demonstrated lower risk under allele contrast and recessive model in Asian subgroup. The rs2241767(+346 A > G) polymorphism was associated with reduced T2DM risk under allele contrast and in subgroup analysis only African population showed significant association. In contrast, the over dominant model was associated with increased T2DM risk in rs16861194, rs266729, rs182052, rs2241766, rs17300539 and rs822396. The African and Asian ethnicity demonstrated an increased risk in over dominant model with rs16861194 and rs2241766 while Asian ethnicity showed significant association under over dominant model in rs182052 and rs822396. The rs3774261(+712 A > G) and rs1501299(+276G > T) showed no association with T2DM risk.</div></div><div><h3>Conclusion</h3><div>The major polymorphism of adiponectin showed increased risk under overdominant model while showed a reduced risk under allele and recessive genetic model.</div></div>\",\"PeriodicalId\":29686,\"journal\":{\"name\":\"Human Gene\",\"volume\":\"46 \",\"pages\":\"Article 201463\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2025-08-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Human Gene\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2773044125000890\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Human Gene","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2773044125000890","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
摘要
背景2型糖尿病(T2DM)是一种代谢性疾病,脂联素等脂肪因子在T2DM的发展中起着至关重要的作用。脂联素由APM1/ADIPOQ基因编码,其多态性与T2DM有关。本研究旨在确定脂联素基因主要SNP与T2DM风险的总体影响。方法通过文献检索,筛选合适的研究并提取资料。结果APM1/ADIPOQ基因型rs16861194(- 11426 A >; G)、rs266729(- 1137C >; G)、rs2241766(+45 T >; G)、rs17300539(- 11391 G >; A)和rs822396(- 3971 G >; A)的等位基因对比和隐性模型与T2DM风险降低相关。在rs16861194和rs2241766等位基因对比和隐性模型下,非洲和亚洲人群亚组T2DM风险较低,而在rs266729隐性模型下,高加索人群与T2DM风险降低相关。rs822396变异在等位基因对比和隐性模型下在亚洲亚群中表现出较低的风险。在等位基因对比下,rs2241767(+346 A >; G)多态性与T2DM风险降低相关,在亚组分析中,只有非洲人群显示出显著的相关性。相反,过显性模型与rs16861194、rs266729、rs182052、rs2241766、rs17300539和rs822396的T2DM风险增加相关。非洲和亚洲族裔在rs16861194和rs2241766的过显性模型下风险增加,而亚洲族裔在rs182052和rs822396的过显性模型下风险显著增加。rs3774261(+712 A >; G)和rs1501299(+276G >; T)与T2DM风险无相关性。结论脂联素主多态性在过显性遗传模式下风险增加,在等位基因和隐性遗传模式下风险降低。
Adiponectin gene polymorphism and TyPE 2 diabetes MellitUS: Contrasting genetic RISKS in overdominant vs recessive and allele models – an updated meta – analysis
Background
Type 2 Diabetes Mellitus (T2DM) is a metabolic disorder and adipokines such as adiponectin plays a crucial role in the development of T2DM. Adiponectin is encoded by APM1/ADIPOQ gene and polymorphism has been associated with T2DM. The present study aims to determine the overall effect of major SNP of adiponectin gene with T2DM risk.
Methods
A through literature search was conducted to identify suitable studies and data was extracted. The association of SNP with T2DM was determined using odds ratio (OR) with 95 % C.I.
Result
Allele contrast and recessive model of rs16861194(−11426 A > G), rs266729(−1137C > G), rs2241766(+45 T > G), rs17300539(−11,391 G > A) and rs822396(−3971 G > A) genotype of the APM1/ADIPOQ gene was associated with reduced T2DM risk. The African and Asian population subgroup demonstrated lower T2DM risk under allele contrast and recessive model of rs16861194 and rs2241766 while Caucasian was associated with reduced risk in recessive model of rs266729. The rs822396 variant demonstrated lower risk under allele contrast and recessive model in Asian subgroup. The rs2241767(+346 A > G) polymorphism was associated with reduced T2DM risk under allele contrast and in subgroup analysis only African population showed significant association. In contrast, the over dominant model was associated with increased T2DM risk in rs16861194, rs266729, rs182052, rs2241766, rs17300539 and rs822396. The African and Asian ethnicity demonstrated an increased risk in over dominant model with rs16861194 and rs2241766 while Asian ethnicity showed significant association under over dominant model in rs182052 and rs822396. The rs3774261(+712 A > G) and rs1501299(+276G > T) showed no association with T2DM risk.
Conclusion
The major polymorphism of adiponectin showed increased risk under overdominant model while showed a reduced risk under allele and recessive genetic model.