Human genetics: Rich genomic history of two isolated Indigenous peoples of South America

Moreno-Mayar, J. Víctor

doi:10.1016/j.cub.2023.05.072

Cited by 1 publication

(1 citation statement)

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“…This study spans genetics, epidemiology, public health, and anthropology. Interdisciplinary collaborations are essential to advance our understanding of complex diseases and improve current prevention, early detection, and treatment [28,29]. We recently organized a symposium on Native American Ancestry in Genetic Research Projects at the joint meeting of the Chilean Genetics Society and the Chilean Society of Evolution and are organizing the summer school "Ancestry meets Molecular Health" (https://www.klinikum.uni-heidelberg.de/medizinischebiometrie/forschung/arbeitsgruppen/statistical-genetics/research-training, accessed on 3 August 2023) to discuss how to involve communities and individuals in the design and implementation of genetic research projects and improve the dissemination of study results.…”

Section: Patient and Public Involvementmentioning

confidence: 99%

Gallbladder Cancer Risk and Indigenous South American Mapuche Ancestry: Instrumental Variable Analysis Using Ancestry-Informative Markers

Zollner

Boekstegers

Ponce

et al. 2023

Cancers

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A strong association between the proportion of indigenous South American Mapuche ancestry and the risk of gallbladder cancer (GBC) has been reported in observational studies. Chileans show the highest incidence of GBC worldwide, and the Mapuche are the largest indigenous people in Chile. We set out to assess the confounding-free effect of the individual proportion of Mapuche ancestry on GBC risk and to investigate the mediating effects of gallstone disease and body mass index (BMI) on this association. Genetic markers of Mapuche ancestry were selected based on the informativeness for assignment measure, and then used as instrumental variables in two-sample Mendelian randomization analyses and complementary sensitivity analyses. Results suggested a putatively causal effect of Mapuche ancestry on GBC risk (inverse variance-weighted (IVW) risk increase of 0.8% per 1% increase in Mapuche ancestry proportion, 95% CI 0.4% to 1.2%, p = 6.7 × 10−5) and also on gallstone disease (3.6% IVW risk increase, 95% CI 3.1% to 4.0%), pointing to a mediating effect of gallstones on the association between Mapuche ancestry and GBC. In contrast, the proportion of Mapuche ancestry showed a negative effect on BMI (IVW estimate −0.006 kg/m2, 95% CI −0.009 to −0.003). The results presented here may have significant implications for GBC prevention and are important for future admixture mapping studies. Given that the association between the individual proportion of Mapuche ancestry and GBC risk previously noted in observational studies appears to be free of confounding, primary and secondary prevention strategies that consider genetic ancestry could be particularly efficient.

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Section: Patient and Public Involvementmentioning

confidence: 99%