Gastroenterology

Gastroenterology

Volume 115, Issue 4, October 1998, Pages 937-946
Gastroenterology

Liver, Pancreas, and Biliary Tract
Genetic epidemiology of cholesterol cholelithiasis among Chilean Hispanics, Amerindians, and Maoris,☆☆

https://doi.org/10.1016/S0016-5085(98)70266-5Get rights and content

Abstract

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. 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.

GASTROENTEROLOGY 1998;115:937-946

Section snippets

General clinical, anthropometric, and laboratory data

This study was approved by the Institutional Review Board for Human Studies of the Pontificia Universidad Católica de Chile. Frequencies of gallstones were compared among three Chilean, geographically and ethnically distinct populations aged 20 years and older. A map of Chile and South America with the three specific areas of this study is shown in Figure 1.

. Map of South America and of mainland and insular Chile shown in gray. The main survey on Hispanics was performed in Santiago, Chile. A

Results

The general characteristics of the populations that participated in the study are shown in Table 1.

. General characteristics of the three Chilean populations

VariableHispanicsMapuche IndiansMaoris
Subjects (n)1584182225
Sex (M/F)618/96690/92a99/126
Age (yr)
 Women40 ± 0.543 ± 1.643 ± 1.2a
 Men40 ± 0.6b47 ± 1.844 ± 1.4
 All subjects40 ± 0.3b45 ± 1.144 ± 0.3
aP < 0.05, significantly different from the Hispanic population. bP < 0.01, significantly different from the other two groups.
The mean age of Hispanics

Discussion

This study showed that cholesterol gallstone disease was very common among Chilean Mapuche Indians and Hispanics. Prevalence was >60% among women in their fifties, a frequency slightly lower than that found among Pima Indian women of similar age.6 However, the prevalence was much greater than among Mexican Americans,7, 8, 9 other North American Hispanics,8 and Europeans,11, 12, 13, 14, 15, 16, 17 including Spanish (Emilio Ros, Barcelona, Spain, personal communication, March 1995). The

Acknowledgements

The authors thank the communities of La Florida, Huapi Island, and Hanga-Roa, Easter Island, without whose participation and encouragement these studies could not have been performed; Maria Antonieta Rebeco and Soledad Gazmuri from the Austral University, Valdivia City, for the excellent interview and ethnographic work performed in Huapi Island; Drs. R. Yazigi and C. Ovalle from the Chilean Air Force Hospital for collaboration in the study of Maoris of Easter Island; and Rossana Giancaspero and

References (77)

  • JM Conway

    Ethnicity and energy stores

    Am J Clin Nutr

    (1995)
  • C Sama et al.

    Epidemiology and natural history of gallstone disease

    Semin Liver Dis

    (1990)
  • DP Burkitt

    Some diseases characteristic of modern western civilization

    BMJ

    (1973)
  • KM Weiss et al.

    Genetics and epidemiology of gallbladder disease in New World Native Peoples

    Am J Hum Genet

    (1984)
  • RE Sampliner et al.

    Gallbladder disease in Pima Indians. Demonstration of high prevalence and early onset by cholecystography

    N Engl J Med

    (1970)
  • AK Diehl et al.

    Special Health Problems of Mexican-Americans: obesity, gallbladder disease, diabetes mellitus, and cardiovascular disease

    Adv Intern Med

    (1989)
  • GL Hanis et al.

    An ultrasound survey of gallbladder disease among Mexican Americans in Starr County, Texas: frequencies and risk factors

    Ethnicity Dis

    (1993)
  • C Covarrubias et al.

    Epidemiology of gallstone disease in Chile

  • L Barbara et al.

    A population study on the prevalence of gallstone disease: the Sirmione study

    Hepatology

    (1987)
  • The Rome Group for the Epidemiology and Prevention of Cholelithiasis (GREPCO)

    Prevalence of gallstone disease in an Italian adult female population

    Am J Epidemiol

    (1984)
  • The Rome Group for the Epidemiology and Prevention of Cholelithiasis (GREPCO)

    The epidemiology of gallstone disease in Rome, Italy. Part I. Prevalence data in men

    Hepatology

    (1988)
  • T Jörgensen

    Prevalence of gallstones in a Danish population

    Am J Epidemiol

    (1987)
  • KW Heaton et al.

    Symptomatic and silent gallstones in the community

    Gut

    (1991)
  • O Muhrbeck et al.

    Prevalence of gallstone disease in a Swedish population

    Scand J Gastroenterol

    (1995)
  • H Berndt et al.

    Prävalenz der Cholelithiasis. Ergebnisse einer epidemiologischen Studie mittels Sonographie in der DDR

    Z Gastroenterol

    (1989)
  • MS Khuroo et al.

    Prevalence of biliary tract disease in India: a sonographic study in an adult population in Kashmir

    Gut

    (1989)
  • H Nomura et al.

    Prevalence of gallstone disease in a general population of Okinawa, Japan

    Am J Epidemiol

    (1988)
  • AK Diehl et al.

    Prevalence of clinical gallbladder disease in Mexican-American, Anglo, and black women

    South Med J

    (1980)
  • CL Hanis et al.

    Gallbladder disease epidemiology in Mexican Americans in Starr County, Texas

    Am J Epidemiol

    (1985)
  • AK Diehl

    Genetic, ethnic, and environmental factors: findings from the San Antonio heart study

  • BL Strom et al.

    Risk factors for gallbladder cancer. An international collaborative case-control study

    Cancer

    (1995)
  • F Nervi et al.

    Frequency of gallbladder cancer in Chile, a high risk area

    Int J Cancer

    (1988)
  • LL Cavalli-Sforza et al.

    Reconstruction of human evolution: bringing together genetic, archaeological and linguistic data

    Proc Natl Acad Sci USA

    (1988)
  • JV Neel et al.

    Virologic and genetic studies relate Amerind origins to the indigenous people of the Mongolia/ Manchuria/southeastern Siberia region

    Proc Natl Acad Sci USA

    (1994)
  • SM Haffner et al.

    Increased prevalence of clinical gallbladder disease in subjects with non insulin dependent diabetes mellitus

    Am J Epidemiol

    (1990)
  • A Rollán et al.

    Apolipoprotein E polymorphism in patients with acute pancreatitis

    Pancreas

    (1994)
  • A Bertomeau et al.

    Apolipoprotein E polymorphism and gallstones

    Gastroenterology

    (1996)
  • T Junoven et al.

    Polymorphisms at the apoB, apoA-I, and cholesteryl ester transfer protein gene loci in patients with gallbladder disease

    J Lipid Res

    (1995)
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    Address requests for reprints to: Flavio Nervi, M.D., Departamento de Gastroenterologia, Pontificia Universidad Católica, Casilla 114-D, Santiago, Chile. e-mail: [email protected]; fax: (56) 2-639-7780.

    ☆☆

    Supported by grant 1091-G224/ICU/CILE from the Ministero degli Affari Esteri D'Italia and grants 0620 and 1971092 from the Fondo Nacional de Ciencia y Tecnologia (to F.N.).

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