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一项全基因组扫描揭示了2号染色体p13区域上一个子痫前期的母体易感性位点。

A genome-wide scan reveals a maternal susceptibility locus for pre-eclampsia on chromosome 2p13.

作者信息

Arngrímsson R, Sigurõardóttir S, Frigge M L, Bjarnadóttir R I, Jónsson T, Stefánsson H, Baldursdóttir A, Einarsdóttir A S, Palsson B, Snorradóttir S, Lachmeijer A M, Nicolae D, Kong A, Bragason B T, Gulcher J R, Geirsson R T, Stefánsson K

机构信息

Medical Genetics Unit, Faculty of Medicine, University of Iceland, Medical School Building, Vatnsmrarvegur, 101 Reykjavík, Iceland.

出版信息

Hum Mol Genet. 1999 Sep;8(9):1799-805. doi: 10.1093/hmg/8.9.1799.

Abstract

Pre-eclampsia is a common and serious disease and a major cause of maternal and infant mortality. Antenatal care systems world-wide screen for signs of the disease such as hypertension and proteinuria. Unlike most other human disorders it impacts two individuals, the mother and the child, both of whom can be severely affected. The pathophysiology of the disorder is incompletely understood, but familial clustering of the disease is apparent. Here we report the results of a genome-wide screen of Icelandic families representing 343 affected women. Including those patients with non-proteinuric pre-eclampsia (gestational hypertension), proteinuric pre-eclampsia and eclampsia, we detected a significant locus on 2p13 with a lod score of 4.70 (single point P < 3.49 x 10(-6)). This is the first reported locus for pre-eclampsia meeting the criteria for genome-wide significance.

摘要

子痫前期是一种常见且严重的疾病,是母婴死亡的主要原因。全球的产前保健系统都会筛查该疾病的迹象,如高血压和蛋白尿。与大多数其他人类疾病不同,它会影响两个人,即母亲和孩子,两者都可能受到严重影响。该疾病的病理生理学尚未完全了解,但疾病的家族聚集现象很明显。在此,我们报告了对代表343名受影响女性的冰岛家庭进行全基因组筛查的结果。包括那些患有非蛋白尿性子痫前期(妊娠期高血压)、蛋白尿性子痫前期和子痫的患者,我们在2p13上检测到一个显著位点,其对数优势分数为4.70(单点P < 3.49 x 10(-6))。这是首次报道的符合全基因组显著性标准的子痫前期位点。

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