Strategies for identifying modifier genes in cystic fibrosis.
Strategies for identifying modifier genes in cystic fibrosis.
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DOI：
10.1513/pats.200605-129jg
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发表时间：
2007-01-01
期刊：
影响因子：
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通讯作者：
Boyle, Michael P
中科院分区：
文献类型：
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作者：
Boyle, Michael P
即使在具有相同 CFTR 基因型的囊性纤维化 (CF) 患者中，肺部疾病的严重程度也存在很大差异，有些人在生命早期就面临死亡或肺移植，而另一些人则在成年后表现出轻度肺部疾病。尽管已经确定了许多影响 CF 肺部表型的环境因素，但现在越来越多的证据表明，除了 CFTR 之外，基因的多态性变异在确定 CF 肺部疾病的严重程度方面也发挥着重要作用。本文回顾了有关 CF 遗传修饰因素的最新发现，并详细讨论了目前用于识别 CF 肺表型新修饰因素的策略。这些包括单中心和多中心研究、双胞胎和同胞研究、微阵列方法和全基因组关联研究。
Even in patients with cystic fibrosis (CF) with identical CFTR genotypes, there is a wide range in the severity of lung disease, with some individuals facing death or lung transplantation early in life and others demonstrating mild lung disease well into adulthood. Although numerous environmental factors have been identified that influence CF pulmonary phenotype, there is now growing evidence that polymorphic variants in genes besides CFTR play an important role in determining severity of CF lung disease. This article reviews the most recent findings regarding genetic modifiers in CF and also discusses in detail the strategies currently being used to identify novel modifiers of CF pulmonary phenotype. These include single- and multicenter studies, twin and sib studies, microarray approaches, and whole genome association studies.