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Genetics of sarcoidosis.

机译：结节病的遗传学。

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The predisposition to sarcoidosis is genetically determined, and genetics appears also to account for the variability in clinical phenotype and behaviour. Many genetic loci have been investigated to date, mainly in case-control association studies. However, only a small number of human leukocyte antigen (HLA) alleles have been consistently associated with sarcoidosis susceptibility/phenotype. In this regard, the association between Lofgren's syndrome and the extended HLA-DRB1*0301/DQB1*0201 haplotype is probably the most extensively reproduced. Several, generally less convincing, associations have been also reported. Of these, the chemokine receptor and butyrophilin-like 2 (BTNL2) associations are most promising. However, two major limitations of genetic studies are that the understanding of the biological relevance of gene variations in the genome is still incomplete and that the reported associations need to be verified in populations of different ethnicities. Despite a number of intriguing hypotheses, what causes sarcoidosis remains obscure. Genetic studies and, importantly, functional analysis of candidate genes will provide insight into pathogenesis and disease risk. However, if, as many believe, sarcoidosis is a heterogeneous collection of disorders, a critical step will be to carefully refine the clinical phenotype, as genetic studies of complex diseases are more rewording if a very specific disease subset is addressed.
机译：结节病的易感性是由遗传决定的，遗传学似乎也说明了临床表型和行为的变异性。迄今为止，已经研究了许多遗传基因座，主要是在病例对照研究中。但是，只有少量的人类白细胞抗原（HLA）等位基因与结节病易感性/表型一致。在这方面，洛夫格伦氏综合症与扩展的HLA-DRB1 * 0301 / DQB1 * 0201单倍型之间的关联可能是最广泛复制的。还报告了一些通常不太令人信服的协会。在这些中，趋化因子受体和类嗜丁素2（BTNL2）协会是最有希望的。然而，遗传学研究的两个主要局限性在于，对基因组中基因变异的生物学相关性的理解仍然不完整，并且所报道的关联性需要在不同种族的人群中进行验证。尽管有许多有趣的假设，但导致结节病的原因仍然不清楚。遗传研究以及重要的候选基因功能分析将提供对发病机理和疾病风险的洞察力。但是，如果像许多人所认为的那样，结节病是疾病的异质性集合，那么关键的一步将是仔细完善临床表型，因为如果解决了非常具体的疾病子集，那么复杂疾病的遗传研究将更加措辞。

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