title: 21-Hydroxylase gene mutant allele CYP21A2*15 strongly linked to the resistant HLA haplotype B*14:02-DRB1*01:02 in chronic Chagas disease.
abstract: We previously reported protective haplotype HLA-B*14:02-DRB1*01:02 against chronic Chagas disease in Bolivia. The V281L mutant allele of the 21-Hydroxylase gene, CYP21A2*15, is reported to be located in the Class III region of the Human leukocyte antigen region and linked to the haplotype HLA-B*14:02-DRB1*01:02. The mutant allele might play a primary role in the pathogenesis of chronic Chagas disease in the associated HLA region. We analyzed the frequency of this allele in the same subjects for the previous one. The statistical analysis showed a significant association of the CYP21A2*15 with resistance to severe chronic Chagas disease (OR=0.207273; Pv=0.0041). However, there is no significant tendency of the mutant gene contribution to the resistance after the elimination of the HLA-B*14:02-DRB1*01:02 linked mutants (OR=0.38; Pv=0.1533). Although the frequency of the CYP21A2*15 was small, we found no primary contribution of this mutation to the protection against chronic Chagas disease.
authors: Department of Immunogenetics, Institute of Tropical Medicine (NEKKEN), 1-12-4 Sakamoto, Nagasaki 852-8523, Japan.
authors: Florencia
authors: F
authors: del Puerto
authors: Mihoko
authors: M
authors: Kikuchi
authors: Juan Eiki
authors: JE
authors: Nishizawa
authors: Yelin
authors: Y
authors: Roca
authors: Cinthia
authors: C
authors: Avila
authors: Alberto
authors: A
authors: Gianella
authors: Javier
authors: J
authors: Lora
authors: Freddy Udalrico
authors: FU
authors: Gutierrez Velarde
authors: Kenji
authors: K
authors: Hirayama
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D014355:Chagas Disease / Q000235:genetics* / Q000276:immunology; D002908:Chronic Disease; D005260:Female; D008040:Genetic Linkage; D015235:HLA-B Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D015235:HLA-B Antigens; D059811:HLA-DRB1 Chains; C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase