[Genetic background of sarcoidosis--special reference to HLA].
A comprehensive epidemiological study (ACCESS) recently conducted in the United States has recognized modest familial aggregation of sarcoidosis. Therefore, genetic factors, in particular human leukocyte antigens (HLAs) are believed to be important determinants of susceptibility to sarcoidosis. A previous case-control study on Japanese population has postulated that an amino acid, serine, at position 11 of beta subunit of HLA-DR confers susceptibility to sarcoidosis. Whereas, a more recent study suggests that protective HLA-DR alleles, which encode the DR1 and DR4 antigens, were found to share characteristic small hydrophobic residues at the same position. Meanwhile, the first genome scan on sarcoidosis has found the highest linkage score in the class III region, where HLA-DR genes do not exist. Complete clarification of genetic mechanisms of sarcoidosis awaits the precise identification of causative antigens, if any.
Yamaguchi
Etsuro
E
Division of Respiratory Medicine, School of Medicine, Hokkaido University.
Kawakami
Yoshikazu
Y
D005819:Genetic Markers; D015894:Genome, Human; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D008233:Lymphotoxin-alpha / Q000235:genetics; D011110:Polymorphism, Genetic; D012507:Sarcoidosis / Q000235:genetics*; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics
D005819:Genetic Markers; D006680:HLA Antigens; D008233:Lymphotoxin-alpha; D014409:Tumor Necrosis Factor-alpha