Background and 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.
Patients and 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.
*Institute of Nutrition and Food Technology (INTA)
†Laboratorio de Genómica Nutricional, Departamento de Nutrición, Facultad de Medicina, Universidad de Chile, Santiago, Chile
‡Departamento de Citogenética, Instituto de Investigaciones Biológicas Clemente Estable, Montevideo, Uruguay
§Servicio de Genética Molecular e Histocompatibilidad, Hospital “Dr Julio C. Perrando,” Resistencia, Chaco, Argentina
||Servicio de Pediatría, Unidad de Gastroenterología, Hospital Militar
¶Servicio de Pediatría, Unidad de Gastroenterología, Hospital San Juan de Dios
#Servicio de Pediatría, Unidad de Gastroenterología, Hospital Exequiel González Cortes, Santiago, Chile.
Address correspondence and reprint requests to Prof Magdalena Araya, Institute of Nutrition and Food Technology (INTA), Universidad de Chile, Macul 5540, Macul, Santiago, Chile (e-mail: email@example.com).
Received 22 September, 2010
Accepted 4 April, 2011
The present study was partially funded by CINUT.
The authors report no conflicts of interest.