Genetic susceptibility to pre-eclampsia and chromosome 7q36
Genetic susceptibility to pre-eclampsia and chromosome 7q36
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DOI：
10.1007/s004390051156
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发表时间：
1999-12-01
期刊：
影响因子：
5.3
通讯作者：
Brennecke, SP
中科院分区：
文献类型：
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作者：
Guo, GL;Lade, JA;Brennecke, SP
先兆子痫是人类妊娠期最常见的严重医学疾病。人内皮细胞一氧化氮合酶（eNOS）基因是先兆子痫/子痫（PE/E）易感性的候选基因。利用来自7号染色体的25个微卫星标记对澳大利亚PE/E家系进行连锁研究，其中eNOS-CA位于eNOS基因内。使用参数或非参数分析未发现eNOS-CA标记的显著连锁。然而，来自7 q36上eNOS基因区域的D 7S 1805使用参数分析（最大LOD得分= 2.143，θ = 0.14）和非参数APM分析（T-1/sqrt（p）= 3.53; P = 0.002）给出了连锁的建议。此外，对中国和澳大利亚人群中无关的PE/E病例和对照进行关联研究，以检测eNOS基因与PE/E之间的关系。在两个人群中均未发现eNOS-CA标记物与PE/E之间的关联。两个民族eNOS-CA等位基因分布差异有统计学意义。连锁结果支持先兆子痫的易感性位点位于7 q36区域的可能性，然而，没有明确的证据支持eNOS基因本身负责先兆子痫易感性的观点。
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, D7S1805 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 (T-1/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.