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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans
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A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans

机译：SERPINH1基因启动子中的功能性SNP增加非洲裔美国人胎膜早破的风险

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Prematurity is more prevalent in African Americans than in European Americans. We investigated the contribution of a functional SNP in the promoter of the SERPINH1 gene, enriched among those of African ancestry, to preterm premature rupture of membranes (PPROM), the leading identifiable cause of preterm birth. SERPINH1 encodes heat-shock protein 47, a chaperone essential for collagen synthesis. The SERPINH1 -656 minor T allele had a greater frequency in African populations and African Americans than in European Americans (12.4% vs. 4.1%). The -656 T allele displayed significantly reduced promoter activity compared to the major -656 C allele in amnion fibroblasts, which lay down the fibrillar collagen that gives tensile strength to the amnion. An initial case-control study demonstrated that the -656 T allele is significantly more frequent in African-American neonates (P < 0.0009) born from pregnancies complicated by PPROM compared with controls (odds ratio of 3.22, 95% confidence interval 1.50, 7.22). There was no significant difference in ancestry among cases and controls using a dihybrid model based on 29 ancestry-informative markers. Adjusting the results of the case-control study for admixture still yielded a statistically significant association between the -656 T allele and PPROM (P < 0.002). A follow-up case-control study gave similar results. The combined case-control findings showed a highly significant (P < 0.0000045) association between the -656 T allele and PPROM. The SERPINH1 -656 T allele is the first example of an ancestry-informative marker associated with preterm birth in African Americans.
机译：在非洲裔美国人中，早产比在欧美人中更普遍。我们调查了功能丰富的SNP在SERPINH1基因的启动子中的贡献，该基因在非洲血统中很丰富，对早产胎膜早破（PPROM），胎膜早破的主要原因是早产。 SERPINH1编码热激蛋白47，这是胶原蛋白合成必不可少的伴侣。 SERPINH1 -656次要T等位基因在非洲人群和非裔美国人中的发生频率高于欧洲裔美国人（12.4％对4.1％）。与羊膜成纤维细胞中的主要-656 C等位​​基因相比，-656 T等位基因显示出显着降低的启动子活性，后者沉积了赋予羊膜拉伸强度的原纤维胶原。最初的病例对照研究表明，与对照组相比，妊娠并发PPROM的非裔美国人新生儿中-656 T等位基因的发生率明显更高（P <0.0009）（优势比为3.22，95％置信区间1.50，7.22）。 。使用基于29个祖先信息标记的双杂交模型的病例和对照之间的祖先没有显着差异。调整混合病例对照研究的结果，仍在-656 T等位基因与PPROM之间产生了统计学上的显着关联（P <0.002）。后续病例对照研究得出了相似的结果。合并病例对照研究结果显示，-656 T等位基因与PPROM之间存在高度显着的关联（P <0.0000045）。 SERPINH1 -656 T等位基因是与非洲裔美国人早产相关的祖先信息标记的第一个例子。

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