title: Genetic epidemiology of cholesterol cholelithiasis among Chilean Hispanics, Amerindians, and Maoris.
abstract: OBJECTIVE
  The etiology of cholesterol gallstones is multifactorial, with interactions of genes and the environment. The hypothesis that aborigine cholesterol lithogenic genes are widely spread among Chileans, a population with a high prevalence of gallstones, was tested.
  
  
  METHODS
  Medical history and anthropometric measurements were obtained and abdominal ultrasonography was performed in 182 Mapuche Indians, 225 Maoris of Easter Island, and 1584 Hispanics. Blood groups, DNA, lipids, and glucose were analyzed. The Amerindian Admixture Index and mitochondrial DNA (mtDNA) assessed the ethnicity and degree of racial admixture.
  
  
  RESULTS
  Amerindian Admixture Index was 0.8 in Mapuches and 0.4 in Hispanics. All Mapuches, 88% of Hispanics, but none of Maoris had Amerindian mtDNA haplotypes. Age- and sex-adjusted global prevalence of gallstone disease was higher in Mapuches (35%) than in Hispanics (27%) and Maoris (21%). Compared with Hispanics, the youngest group of Mapuches had the greatest corrected risk of gallstones: odds ratios of 6.0 in women and 2.3 in men. In contrast, the gallstone risk in Maoris was lower compared with Hispanics: odds ratios of 0.6 for women and 0.5 for men.
  
  
  CONCLUSIONS
  Cholesterol lithogenic genes appear widely spread among Chilean Indians and Hispanics. They could determine the early formation of gallstones and explain the high prevalence of gallbladder diseases among some South American populations.
authors.affiliation: Departamento de Gastroenterología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
authors.forename: J F
authors.initials: JF
authors.lastname: Miquel
authors.forename: C
authors.initials: C
authors.lastname: Covarrubias
authors.forename: L
authors.initials: L
authors.lastname: Villaroel
authors.forename: G
authors.initials: G
authors.lastname: Mingrone
authors.forename: A V
authors.initials: AV
authors.lastname: Greco
authors.forename: L
authors.initials: L
authors.lastname: Puglielli
authors.forename: P
authors.initials: P
authors.lastname: Carvallo
authors.forename: G
authors.initials: G
authors.lastname: Marshall
authors.forename: G
authors.initials: G
authors.lastname: Del Pino
authors.forename: F
authors.initials: F
authors.lastname: Nervi
mesh_terms: D000328:Adult; D002677:Chile / Q000453:epidemiology; D002769:Cholelithiasis / Q000208:ethnology* / Q000235:genetics* / Q000378:metabolism; D002784:Cholesterol / Q000378:metabolism*; D005260:Female; D006630:Hispanic or Latino / Q000235:genetics / Q000706:statistics & numerical data*; D006801:Humans; D007199:Indians, South American / Q000235:genetics / Q000706:statistics & numerical data*; D008297:Male; D008875:Middle Aged; D011114:Polynesia / Q000453:epidemiology
chemical_list: D002784:Cholesterol