Miquel J F, Covarrubias C, Villaroel L, Mingrone G, Greco A V, Puglielli L, Carvallo P, Marshall G, Del Pino G, Nervi F
Departamento de Gastroenterología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
Gastroenterology. 1998 Oct;115(4):937-46. doi: 10.1016/s0016-5085(98)70266-5.
BACKGROUND & AIMS: 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.
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.
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.
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.
胆固醇性胆结石的病因是多因素的，涉及基因与环境的相互作用。本研究对原住民胆固醇致石基因在胆结石患病率较高的智利人群中广泛传播这一假说进行了验证。
收集了182名马普切印第安人、225名复活节岛毛利人和1584名西班牙裔的病史和人体测量数据，并进行了腹部超声检查。分析了血型、DNA、血脂和血糖。美洲印第安人混合指数和线粒体DNA（mtDNA）用于评估种族和种族混合程度。
马普切人的美洲印第安人混合指数为0.8，西班牙裔为0.4。所有马普切人、88%的西班牙裔人有美洲印第安人mtDNA单倍型，而毛利人无一例有。经年龄和性别调整后，马普切人胆结石疾病的总体患病率（35%）高于西班牙裔（27%）和毛利人（21%）。与西班牙裔相比，最年轻的马普切人群胆结石校正风险最高：女性比值比为6.0，男性为2.3。相比之下，毛利人的胆结石风险低于西班牙裔：女性比值比为0.6，男性为0.5。
胆固醇致石基因似乎在智利印第安人和西班牙裔中广泛传播。它们可能决定胆结石的早期形成，并解释了一些南美人群中胆囊疾病的高患病率。
