title: Amerindian mtDNA haplogroups and celiac disease risk HLA haplotypes in mixed-blood Latin American patients.
abstract: OBJECTIVE
  Risk haplotypes have been described in celiac disease (CD), but the influence of native genes on CD in Hispanic Americans is unknown. The aim of the study was to measure the frequency of Amerindian mitochondrial DNA (mtDNA) haplogroups (inherited by the maternal line) in mixed-blood patients with CD from Chile, Argentina, and Uruguay, and to assess the relation between these and human leukocyte antigen (HLA) alleles and haplotypes and clinical presentations.
  
  
  METHODS
  Clinical history, histological data, and genetic studies were conducted following 2 protocols: a case-control study of 72 Chilean patients with CD and controls, and an assessment of 43 (additional) samples of celiac patients from Chile, 96 from Argentina, and 57 from Uruguay, compared with the mtDNA frequency in the corresponding country. HLA typing was performed by a commercial kit, and mtDNA was determined by means of polymerase chain reaction and restriction fragment length polymorphisms analysis.
  
  
  RESULTS
  A total of 73.6% of cases had typical presentations. The most frequent HLA alleles were HLA-DQB*201 and 202. No-DQ2/DQ8 HLA haplotypes were found in 7% of cases. mtDNA frequencies for typical Amerindian haplogroups were found in 71% of cases and 64% of controls (P χ2 = 0.016); in the comparative analysis, mtDNA distribution was not different from the figures reported for the respective general country population. No relation was found between haplotypes or haplogroups and clinical presentations.
  
  
  CONCLUSIONS
  mtDNA haplogroups A/B/C/D were frequently found in celiac patients and controls, but no relations appeared between haplogroups, haplotypes, and clinical presentations.
authors.affiliation: Institute of Nutrition and Food Technology (INTA), Departamento de Nutrición, Facultad de Medicina, Universidad de Chile, Santiago, Chile.
authors.forename: Alejandra
authors.initials: A
authors.lastname: Parada
authors.forename: Magdalena
authors.initials: M
authors.lastname: Araya
authors.forename: Francisco
authors.initials: F
authors.lastname: Pérez-Bravo
authors.forename: Marco
authors.initials: M
authors.lastname: Méndez
authors.forename: Adriana
authors.initials: A
authors.lastname: Mimbacas
authors.forename: Patricia
authors.initials: P
authors.lastname: Motta
authors.forename: Graciela
authors.initials: G
authors.lastname: Martín
authors.forename: Gabriela
authors.initials: G
authors.lastname: Martín
authors.forename: Jorge
authors.initials: J
authors.lastname: Botero
authors.forename: Nelly
authors.initials: N
authors.lastname: Espinosa
authors.forename: Teresa
authors.initials: T
authors.lastname: Alarcon
authors.forename: Paulina
authors.initials: P
authors.lastname: Canales
mesh_terms: D000293:Adolescent; D000483:Alleles; D001118:Argentina; D016022:Case-Control Studies; D002446:Celiac Disease / Q000453:epidemiology* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002677:Chile; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D059866:HLA-DQ beta-Chains / Q000235:genetics* / Q000378:metabolism; D006239:Haplotypes; D006801:Humans; D007199:Indians, South American / Q000235:genetics; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D013020:South America / Q000453:epidemiology; D014583:Uruguay
chemical_list: D004272:DNA, Mitochondrial; D059866:HLA-DQ beta-Chains; C057615:HLA-DQbeta antigen