Department of Pediatrics, University of Iowa, Iowa City, IA 52242-1181, USA.
J Perinatol. 2013 May;33(5):336-40. doi: 10.1038/jp.2012.118. Epub 2012 Sep 27.
To investigate genetic etiologies of preterm birth (PTB) in Argentina through evaluation of single-nucleotide polymorphisms (SNPs) in candidate genes and population genetic admixture.
Genotyping was performed in 389 families. Maternal, paternal and fetal effects were studied separately. Mitochondrial DNA (mtDNA) was sequenced in 50 males and 50 females. Y-chromosome anthropological markers were evaluated in 50 males.
Fetal association with PTB was found in the progesterone receptor (PGR, rs1942836; P=0.004). Maternal association with PTB was found in small conductance calcium activated potassium channel isoform 3 (KCNN3, rs883319; P=0.01). Gestational age associated with PTB in PGR rs1942836 at 32-36 weeks (P=0.0004). MtDNA sequencing determined 88 individuals had Amerindian consistent haplogroups. Two individuals had Amerindian Y-chromosome consistent haplotypes.
This study replicates single locus fetal associations with PTB in PGR, maternal association in KCNN3, and demonstrates possible effects for divergent racial admixture on PTB.
通过评估候选基因和人群遗传混合的单核苷酸多态性（SNPs），研究阿根廷早产（PTB）的遗传病因。
对 389 个家庭进行了基因分型。分别研究了母体、父体和胎儿的影响。对 50 名男性和 50 名女性的线粒体 DNA（mtDNA）进行了测序。对 50 名男性的 Y 染色体人类学标志物进行了评估。
在孕激素受体（PGR，rs1942836；P=0.004）中发现了与 PTB 相关的胎儿关联。在小电导钙激活钾通道同工型 3（KCNN3，rs883319；P=0.01）中发现了与 PTB 相关的母体关联。PGR rs1942836 在 32-36 周时与 PTB 相关的胎龄（P=0.0004）。mtDNA 测序确定了 88 个人具有美洲印第安人一致的单倍群。有两个人具有美洲印第安人 Y 染色体一致的单倍型。
本研究复制了 PGR 中与 PTB 相关的单一基因座胎儿关联、KCNN3 中的母体关联，并证明了不同种族混合对 PTB 的可能影响。
