Guo G, Lade J A, Wilton A N, Moses E K, Grehan M, Fu Y, Qiu H, Cooper D W, Brennecke S P
Department of Perinatal Medicine, Royal Women's Hospital, Carlton, Victoria, Australia.
Hum Genet. 1999 Dec;105(6):641-7. doi: 10.1007/s004399900172.
Pre-eclampsia is the most common serious medical disorder of human pregnancy. The human endothelial cell nitric oxide synthase (eNOS) gene is a candidate for pre-eclampsia/eclampsia (PE/E) susceptibility. A linkage study was performed on Australian PE/E families using 25 microsatellite markers from chromosome 7, one of which (eNOS-CA) resides within the eNOS gene. No significant linkage was found for the eNOS-CA marker using either parametric or non-parametric analysis. However, D7S 1805 from the eNOS gene region on 7q36, gave a suggestion of linkage using parametric analysis (maximum LOD score =2.143 at theta=0.14) and non-parametric APM analysis (T1/sqrt(p)=3.53; P=0.002). Further, an association study was performed on unrelated PE/E cases and controls from both Chinese and Australian populations to test for a relationship between the eNOS gene and PE/E. No association was found between the eNOS-CA marker and PE/E in either population. However, there was a significant difference in the allelic distribution of eNOS-CA between the two ethnic groups. The linkage results support the possibility that a susceptibility locus for pre-eclampsia resides in the 7q36 region, however, there is no definitive evidence to support the notion that the eNOS gene itself is responsible for susceptibility to pre-eclampsia.
子痫前期是人类妊娠中最常见的严重医学病症。人内皮细胞一氧化氮合酶（eNOS）基因是子痫前期/子痫（PE/E）易感性的候选基因。使用来自7号染色体的25个微卫星标记对澳大利亚的PE/E家系进行了连锁研究，其中一个标记（eNOS-CA）位于eNOS基因内。使用参数分析或非参数分析，均未发现eNOS-CA标记有显著连锁。然而，来自7q36上eNOS基因区域的D7S1805，在参数分析（在θ=0.14时最大LOD分数=2.143）和非参数APM分析（T1/sqrt(p)=3.53；P=0.002）中显示出连锁迹象。此外，对来自中国和澳大利亚人群的无关PE/E病例和对照进行了关联研究，以测试eNOS基因与PE/E之间的关系。在这两个人群中，均未发现eNOS-CA标记与PE/E之间存在关联。然而，两个种族群体之间eNOS-CA的等位基因分布存在显著差异。连锁结果支持子痫前期易感基因座位于7q36区域的可能性，然而，没有确凿证据支持eNOS基因本身导致子痫前期易感性的观点。
