PMID- 21505366
OWN - NLM
STAT- MEDLINE
DCOM- 20120202
LR  - 20111005
IS  - 1536-4801 (Electronic)
IS  - 0277-2116 (Linking)
VI  - 53
IP  - 4
DP  - 2011 Oct
TI  - Amerindian mtDNA haplogroups and celiac disease risk HLA haplotypes in 
      mixed-blood Latin American patients.
PG  - 429-34
LID - 10.1097/MPG.0b013e31821de3fc [doi]
AB  - 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 chi2 = 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.
FAU - Parada, Alejandra
AU  - Parada A
AD  - Institute of Nutrition and Food Technology (INTA), Departamento de Nutricion, 
      Facultad de Medicina, Universidad de Chile, Santiago, Chile.
FAU - Araya, Magdalena
AU  - Araya M
FAU - Perez-Bravo, Francisco
AU  - Perez-Bravo F
FAU - Mendez, Marco
AU  - Mendez M
FAU - Mimbacas, Adriana
AU  - Mimbacas A
FAU - Motta, Patricia
AU  - Motta P
FAU - Martin, Graciela
AU  - Martin G
FAU - Botero, Jorge
AU  - Botero J
FAU - Espinosa, Nelly
AU  - Espinosa N
FAU - Alarcon, Teresa
AU  - Alarcon T
FAU - Canales, Paulina
AU  - Canales P
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Pediatr Gastroenterol Nutr
JT  - Journal of pediatric gastroenterology and nutrition
JID - 8211545
RN  - 0 (DNA, Mitochondrial)
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQbeta antigen)
SB  - IM
EIN - J Pediatr Gastroenterol Nutr. 2011 Dec;53(6):702. Martin, Gabriela [corrected to 
      Martin, Graciela]
MH  - Adolescent
MH  - Alleles
MH  - Argentina
MH  - Case-Control Studies
MH  - Celiac Disease/*epidemiology/genetics
MH  - Child
MH  - Child, Preschool
MH  - Chile
MH  - DNA, Mitochondrial/*genetics
MH  - Female
MH  - Gene Frequency
MH  - *Genetic Predisposition to Disease
MH  - Genotype
MH  - HLA-DQ beta-Chains/*genetics/metabolism
MH  - *Haplotypes
MH  - Humans
MH  - Indians, South American/genetics
MH  - Male
MH  - Polymorphism, Restriction Fragment Length
MH  - South America/epidemiology
MH  - Uruguay
EDAT- 2011/04/21 06:00
MHDA- 2012/02/03 06:00
CRDT- 2011/04/21 06:00
PHST- 2011/04/21 06:00 [entrez]
PHST- 2011/04/21 06:00 [pubmed]
PHST- 2012/02/03 06:00 [medline]
AID - 10.1097/MPG.0b013e31821de3fc [doi]
PST - ppublish
SO  - J Pediatr Gastroenterol Nutr. 2011 Oct;53(4):429-34. doi: 
      10.1097/MPG.0b013e31821de3fc.