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• W2960362302 abstract "Chronic mountain sickness (CMS) is a pathological condition resulting from chronic exposure to high-altitude hypoxia. While its prevalence is high in native Andeans (>10%), little is known about the genetic architecture of this disease. Here, we performed the largest genome-wide association study (GWAS) of CMS (166 CMS patients and 146 controls living at 4,380m in Peru) to detect genetic variants associated with CMS. We highlighted four new candidate loci, including the first CMS associated variant reaching GWAS statistical significance (rs7304081; P = 4.58 x 10-9). By looking at differentially expressed genes between CMS patients and controls around these four loci, we suggested AEBP2, CAST and MCTP2 as candidate CMS causal genes. None of the candidate loci were under strong natural selection, consistent with the observation that CMS affects fitness mainly after the reproductive years. Overall, our results reveal new insights on the genetic architecture of CMS, and do not provide evidence that CMS associated variants are linked to a strong ongoing adaptation to high altitude." @default.
• W2960362302 created "2019-07-23" @default.
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• W2960362302 date "2019-07-30" @default.
• W2960362302 modified "2023-10-18" @default.
• W2960362302 title "The Genetic Architecture of Chronic Mountain Sickness in Peru" @default.
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• W2960362302 cites W1980168725 @default.
• W2960362302 cites W1981234696 @default.
• W2960362302 cites W1981683337 @default.
• W2960362302 cites W1984236636 @default.
• W2960362302 cites W1984440430 @default.
• W2960362302 cites W1990039850 @default.
• W2960362302 cites W1991241396 @default.
• W2960362302 cites W1991704577 @default.
• W2960362302 cites W1991738738 @default.
• W2960362302 cites W1992436001 @default.
• W2960362302 cites W1995583187 @default.
• W2960362302 cites W1999623479 @default.
• W2960362302 cites W2013059081 @default.
• W2960362302 cites W2021954706 @default.
• W2960362302 cites W2025253353 @default.
• W2960362302 cites W2026785345 @default.
• W2960362302 cites W2028260332 @default.
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• W2960362302 cites W2062818316 @default.
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• W2960362302 cites W2078074521 @default.
• W2960362302 cites W2087581711 @default.
• W2960362302 cites W2088182436 @default.
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• W2960362302 cites W2096522923 @default.
• W2960362302 cites W2096791516 @default.
• W2960362302 cites W2097576041 @default.
• W2960362302 cites W2104549677 @default.
• W2960362302 cites W2107009422 @default.
• W2960362302 cites W2109099152 @default.
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• W2960362302 cites W2179112516 @default.
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• W2960362302 doi "https://doi.org/10.3389/fgene.2019.00690" @default.
• W2960362302 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6682665" @default.
• W2960362302 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31417607" @default.
• W2960362302 hasPublicationYear "2019" @default.
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