Menon Ramkumar, Velez Digna R, Thorsen Poul, Vogel Ida, Jacobsson Bo, Williams Scott M, Fortunato Stephen J
The Perinatal Research Center, Nashville, TN 37203, USA.
Hum Hered. 2006;62(2):107-18. doi: 10.1159/000096301. Epub 2006 Oct 17.
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.
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.
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.
Our data demonstrate highly significant genetic differences between ethnic groups in genes that may play a role in the risk of PTB.
自发性早产（PTB）存在显著的种族差异，在美国，非裔人群的发病率几乎是欧洲裔人群的两倍。这种差异可能是由遗传风险因素分布的不同所导致。本研究的目的是检测非裔美国人和欧洲裔美国人在PTB候选基因中的单核苷酸多态性（SNP）的遗传差异。
我们检测了早产的3个候选基因（TNF-α、TNF受体1和TNF受体2）中19个SNP的变异模式。分别比较了非裔美国人（AA）和欧洲裔美国人（EA）病例组与对照组的等位基因、基因型和单倍型频率。同时研究了母亲和胎儿的基因型，因为尚不清楚其中一方还是双方在PTB病因学中起重要作用。
尽管在一个种族组内比较病例和对照时只有少数提示性结果，但绝大多数SNP在种族组间存在显著差异。对于TNF-α，6个SNP中的4个；对于TNF-R1，6个中的5个；对于TNF-R2，7个中的6个在等位基因和/或基因型频率上在种族组间显示出显著差异。
我们的数据表明，在可能与PTB风险相关的基因中，种族组间存在高度显著的遗传差异。
