Severe hepatic fibrosis in Schistosoma mansoni infection is controlled by a major locus that is closely linked to the interferon-γ receptor gene
Severe hepatic fibrosis in Schistosoma mansoni infection is controlled by a major locus that is closely linked to the interferon-γ receptor gene
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DOI：
10.1086/302526
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发表时间：
1999-09-01
影响因子：
9.8
通讯作者：
Abel, L
中科院分区：
文献类型：
--
作者：
Dessein, AJ;Hillaire, D;Abel, L
在苏丹等流行地区，2%-10%的曼氏血吸虫感染者会因肝门静脉周围纤维化而导致致命性疾病。目前尚不清楚为什么很少有感染者出现严重疾病，遗传因素可能在纤维化发展中发挥作用。曼氏血吸虫感染水平已被证明是由映射到染色体 5q31-q33 的基因座控制的。为了调查导致门静脉高压的严重肝纤维化（通过超声检查评估）的遗传控制，对来自同一村庄的 65 个苏丹血统进行了分离分析。结果为共显性主基因提供了证据，估计等位基因 A 频率为 0.16，易导致晚期门静脉周围纤维化。对于 AA 男性、AA 女性和 Aa 男性，分别在该地区居住 9 年、14 年和 19 年后达到 50% 的外显率，而对于其他受试者，外显率保持不变
Lethal disease due to hepatic periportal fibrosis occurs in 2%-10% of subjects infected by Schistosoma mansoni in endemic regions such as Sudan. It is unknown why few infected individuals present with severe disease, and inherited factors may play a role in fibrosis development. Schistosoma mansoni infection levels have been shown to be controlled by a locus that maps to chromosome 5q31-q33. To investigate the genetic control of severe hepatic fibrosis (assessed by ultrasound examination) causing portal hypertension, a segregation analysis was performed in 65 Sudanese pedigrees from the same village. Results provide evidence for a codominant major gene, with .16 as the estimated allele A frequency predisposing to advanced periportal fibrosis. For AA males, AA females, and Aa males a 50% penetrance is reached after, respectively, 9, 14, and 19 years of residency in the area, whereas for other subjects the penetrance remains