ty -jour t1-遗传性结节病易感性：墙上的另一砖 - 欧洲呼吸杂志JO -EUR RESSIR J SP -778 LP -778 LP -780 DO -10.1183/09031936.001599912 VL -41 IS -41，David A. Y1 -2013/04/01 UR- http：//www.qdcxjkg.com/content/41/4/4/778.abstract n2-信念遗传易感性对结节病的发展的遗传易感性得到了几种支持证据线：1）单卵双胞胎比双叶双胞胎更常见于该疾病；2）结节病患者比健康受试者更有可能报告患有该疾病的兄弟姐妹或父母；3）在不同种族中，结节病的发生率，发生率和严重程度差异很大[1-4]。根据我们目前对疾病病理生理学的理解，结节病并不归因于单个主要基因或化学途径的缺陷。取而代之的是，这是一种复杂的疾病，可能是由于多种遗传和环境因素共同起作用而引起的，每种因素都会造成相对较小的影响，并且很少发生这种疾病的发生。遗传学也可能有助于在结节病中观察到的各种临床表现和表型。在这方面，有些人认为结节病代表着一种疾病家族（结节性），其中包括：Löfgren综合征，该综合征被定义为发烧，红斑nodosum，双侧肝淋巴结淋巴结瘤和多肌肌痛；非分辨/进行性肺部疾病；和肉芽肿性葡萄膜炎，每个葡萄膜炎具有潜在的不同遗传关联[5]。 Berylliosis could also be considered as a subset of the broad grouping “sarcoidosis”.Traditionally, genetic studies have used a “candidate gene case–control” approach, particularly in the context of rare diseases, like sarcoidosis, because of the difficulties in recruiting large numbers of pedigrees (linkage study) or even larger numbers of well phenotyped subjects (genome-wide association study; GWAS). In candidate gene case–control studies, the distribution of common genetic variations (single nucleotide polymorphisms; SNPs) in the gene(s) of interest is compared between unrelated, affected individuals and matched healthy controls. This hypothesis-based methodology requires understanding of the disease pathophysiology, judicious selection of candidate genes based on their biological plausibility, and knowledge … ER -