Ramu P, Umamaheswaran G, Shewade D G, Swaminathan R P, Balachander J, Adithan C
Pharmacogenomics Laboratory, Department of Pharmacology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry - 605 006, India.
Indian J Hum Genet. 2010 Jan;16(1):8-15. doi: 10.4103/0971-6866.64938.
Essential hypertension is a complex genetic trait. Genetic variant of alpha adducin (ADD1) gene have been implicated as a risk factor for hypertension. Given its clinical significance, we investigated the association between ADD1 Gly460Trp gene polymorphism and essential hypertension in an Indian population. Further, a meta-analysis was carried out to estimate the risk of hypertension.
In the current study, 432 hypertensive cases and 461 healthy controls were genotyped for the Gly460Trp ADD1 gene polymorphism. Genotyping was determined by real time PCR using Taqman assay. Multiple logistic regression analysis was used to detect the association between Gly460Trp polymorphism and hypertension.
No significant association was found in the genotype and allele distribution of Gly460Trp polymorphism with hypertension in our study. A total of 15 case-control studies were included in the meta-analysis. There was no evidence of the association of Gly460Trp polymorphism with hypertension in general or in any of the sub group.
We found that the Gly460Trp polymorphism is not a risk factor for essential hypertension in a south Indian Tamilian population. However, the role of ADD1 polymorphism may not be excluded by a negative association study. Further, large and rigorous case-control studies that investigate gene-gene-environment interactions may generate more conclusive claims about the molecular genetics of hypertension.
原发性高血压是一种复杂的遗传性状。α-内收蛋白（ADD1）基因的遗传变异已被认为是高血压的一个风险因素。鉴于其临床意义，我们在印度人群中研究了ADD1 Gly460Trp基因多态性与原发性高血压之间的关联。此外，还进行了一项荟萃分析以评估高血压风险。
在本研究中，对432例高血压病例和461例健康对照进行了Gly460Trp ADD1基因多态性基因分型。使用Taqman分析法通过实时PCR确定基因分型。采用多元逻辑回归分析来检测Gly460Trp多态性与高血压之间的关联。
在我们的研究中，未发现Gly460Trp多态性的基因型和等位基因分布与高血压之间存在显著关联。荟萃分析共纳入了15项病例对照研究。没有证据表明Gly460Trp多态性与总体高血压或任何亚组中的高血压存在关联。
我们发现，在南印度泰米尔人群中，Gly460Trp多态性不是原发性高血压的风险因素。然而，阴性关联研究不能排除ADD1多态性的作用。此外，调查基因-基因-环境相互作用的大规模、严谨的病例对照研究可能会对高血压的分子遗传学得出更确凿的结论。
