[Class I HLA antigens in children from families with congenital adrenal hyperplasia].
Congenital adrenal hyperplasia (CAH) is a syndrome of adrenal steroid metabolism errors with an autosomal inheritance model. The most common metabolic defect is 21-hydroxylase deficiency. It has been demonstrated that 21-hydroxylase genes are in close association with HLA antigens. I HLA antigens were typed in a group of 32 families of children with CAH-type 21-hydroxylase deficiency with salt loss. The antigen frequencies were determined and compared to those of the control population. The studies revealed that two HLA antigens determined by the B Locus, i.e. HLA-B47 and HLA-B61, showed a highly significant frequency (chi 2 corresponding to 404,5259 and 23,7808, respectively). The calculated relative risk and etiologic fraction values were extremely high, distinguishing the population of patients and their parents. The RR value among patients was 427.1 for HLA-B47 and 7.8 for HLA-B61 antigen. Studies on the correlation between HLA and CAH indicate an association with HLA-B47 and HLA-B61 antigens.
Turowska-Heydel
D
D
I Klinika Chorób Dzieci Polsko-Amerykańskiego Instytutu Pediatrii Collegium Medicum Uniwersytetu Jagiellońskiego w Krakowie.
Pietrzyk
J J
JJ
Turowski
G
G
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics / Q000276:immunology*; D016009:Chi-Square Distribution; D002648:Child; D015235:HLA-B Antigens / Q000235:genetics*; D006650:Histocompatibility Testing; D006801:Humans; D010641:Phenotype; D013255:Steroid 21-Hydroxylase / Q000235:genetics
D015235:HLA-B Antigens; D013255:Steroid 21-Hydroxylase