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目的为了验证GWAS研究发现的3个高血压一个基因的相关性。方法本研究选取了3个在东亚群体中被GWAS研究证实了与高血压发生相关的基因(AKAP13,ENPEP和CNNM2)上的9个SNP,在傣族和蒙古族群体中进行验证。对这9个SNPs用SNaPshot的方法在774例傣族群体和409例蒙古族群体中进行了分型,排布单倍型并进行了统计学分析。结果发现统计学上无法证明这9个SNPs与高血压相关。但是在ENPEP基因的一连锁区段中,rs1126483在傣族群体中呈现与收缩压升高弱阳性关联(χ2=4.53,P=0.033)。同时rs3796889在蒙古族群体中也与收缩压的升高呈现弱阳性关联(χ2=4.35,P=0.037)。虽然这一阳性在进行统计学矫正后消失。结论本研究同时在起源不同,生活环境均差异较大的两个群体中均观察到ENPEP基因这一区段与高血压的关联,这也许暗示了此基因确实可能与高血压发生相关。另一方面本研究的阴性结果,也暗示了中国一些相对封闭的群体可能具有更窄的高血压遗传变异谱。
Aim To verify the association of one of the three hypertensive genes found in the GWAS study. Methods Nine SNPs in the East Asian population that were identified by GWAS as having been associated with hypertension (AKAP13, ENPEP and CNNM2) were selected for validation in the Dai and Mongolian Populations. The 9 SNPs were genotyped by SNaPshot in 774 Dai and 409 Mongolian populations, haplotypes were arranged and statistically analyzed. The results showed that statistically impossible to prove that these 9 SNPs associated with hypertension. However, rs1126483 showed a positive correlation with increased systolic pressure (χ2 = 4.53, P = 0.033) in the Dai population in a linkage segment of ENPEP gene. At the same time rs3796889 showed a weak positive correlation with systolic blood pressure in Mongolian population (χ2 = 4.35, P = 0.037). Although this positive disappears after statistical correction. Conclusions In our study, we found that this segment of ENPEP gene was associated with hypertension in both groups with different origins and different living environments. This may suggest that this gene may indeed be associated with hypertension. On the other hand, the negative results of this study also suggest that some relatively closed populations in China may have narrower spectrum of genetic variability of hypertension.