TY - T1的遗传易感性结节病:墙上的另一块砖JF -欧洲呼吸杂志》乔和J SP - 778 LP - 780欧元——10.1183/09031936.00159912六世- 41 - 4盟Spagnolo是保罗AU -施瓦茨,David a . Y1 - 2013/04/01 UR - //www.qdcxjkg.com/content/41/4/778.abstract N2 -相信存在遗传易感性结节病的发展支持证据几行:1)同卵双胞胎比异卵双胞胎更容易合并这种疾病;2)结节病患者比健康受试者更有可能报告有兄弟姐妹或父母感染该疾病;3)不同种族间结节病的患病率、发病率和严重程度差异较大[1-4]。根据我们目前对疾病病理生理学的理解，结节病不是由于单一主要基因或化学途径的缺陷;相反，它是一种复杂的疾病，可能是多种遗传和环境因素共同作用的结果，每种因素的影响相对较小，如果有的话，很少是疾病发生的绝对必要条件。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，一些人认为结节病代表了一个疾病家族(结节病)，除其他外，包括Löfgren综合征，其定义为急性发热、结节性红斑、双侧肺门淋巴结病和多关节痛;非缓解/进展性肺部疾病;肉芽肿性葡萄膜炎，每一种都有潜在不同的遗传关联。 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 -