Ethnic differences in key candidate genes for spontaneous preterm birth:: TNF-α and its receptors
Ethnic differences in key candidate genes for spontaneous preterm birth:: TNF-α and its receptors
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DOI：
10.1159/000096301
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发表时间：
2006-01-01
期刊：
影响因子：
1.8
通讯作者：
Fortunato, Stephen J.
中科院分区：
文献类型：
--
作者：
Menon, Ramkumar;Velez, Digna R.;Fortunato, Stephen J.
目的：自发性早产（PTB）具有显著的种族差异，在美国，非洲人后裔的发病率几乎是欧洲人后裔的2倍。这种差异可能是由遗传风险因素分布的差异造成的。本研究的目的是探讨非裔美国人和欧洲裔美国人之间的遗传差异的单核苷酸多态性（SNP）的候选基因的肺结核。方法：我们研究了早产的3个候选基因中19个SNP的变异模式：TNF-α，TNF-受体1和TNF-受体2。分别比较了病例组和对照组中非裔美国人（AA）和欧裔美国人（EA）的等位基因、基因型和单倍型频率。研究了母体和胎儿基因型，因为尚不清楚这些基因型中的一种或两种在PTB的病因学中是否重要。结果如下：绝大多数的SNPs在种族群体之间存在显著差异，尽管只有少数提示性结果比较了种族群体内的病例和对照。对于TNF-α，6个SNPs中的4个;对于TNF-R1，5/6;对于TNF-R2，6/7在等位基因和/或基因型频率方面显示出种族之间的显著差异。结论：我们的数据表明，种族之间的基因差异非常显着，可能在PTB的风险中发挥作用。版权所有（c）2006 S. Karger AG，巴塞尔。
Objectives: Spontaneous preterm birth (PTB) has a significant ethnic disparity with people of African descent having an almost 2-fold higher incidence than those of European descent in the United States. This disparity may be caused by differences in the distribution of genetic risk factors. The objective of this study is to examine genetic differences between African-Americans and European Americans for single nucleotide polymorphisms (SNPs) in candidate genes for PTB. Methods: We examined patterns of variation in 19 SNPs in 3 candidate genes for preterm birth: TNF-alpha, TNF-receptor 1 and TNF-receptor 2. Allele, genotype and haplotype frequencies were compared between African-Americans (AA) and European-Americans (EA) in cases and controls separately. Both maternal and fetal genotypes were studied, as it is unclear whether one or both of these are important in the etiology of PTB. Results: The vast majority of the SNPs differed significantly between ethnic groups, although there are only a few suggestive results comparing cases and controls within an ethnic group. For TNF-alpha, four of six SNPs; for TNF-R1, 5/6; and for TNF-R2, 6/7 showed significant differences between ethnic groups in either allele and/or genotype frequency. Conclusions: Our data demonstrate highly significant genetic differences between ethnic groups in genes that may play a role in the risk of PTB. Copyright (c) 2006 S. Karger AG, Basel.