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キーワード:
Adult; Aged; Cohort Studies; European Continental Ancestry Group/genetics; Female; Genetic Predisposition to Disease; Haplotypes/*genetics; Humans; Male; Middle Aged; *Mutation; *Nod2 Signaling Adaptor Protein; *Polymorphism, Single Nucleotide; Sarcoidosis/*genetics/pathology
要旨:
Sarcoidosis is a systematic granulomatous disorder. Genetic susceptibility could play a central role in the disease development and progression. In this study, we investigated whether caspase recruitment domain 15 (CARD15) gene haplotypes are associated with the onset or the clinical course of sarcoidosis. Three hundred Caucasian sarcoidosis patients and 381 matched controls were included. Eight haplotype-tagging single nucleotide polymorphisms (SNPs) in the CARD15 gene were examined by mass spectrometry-based SNP genotyping. By haplotype analysis, mutations located in between tested SNPs can also be identified. Therefore, we can conclude that there is no association between the CARD15 gene and the development or a special phenotype of sarcoidosis in our cohort.
