Articles with "protective variants" as a keyword



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Human adaptation to arsenic in Andean populations of the Atacama Desert.

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Published in 2017 at "American journal of physical anthropology"

DOI: 10.1002/ajpa.23193

Abstract: OBJECTIVES Quebrada Camarones, in the Atacama Desert, has the highest arsenic levels in the Americas (>1,000 µg/L). However, the Camarones people have subsisted in this adverse environment during the last 7,000 years and have not… read more here.

Keywords: human adaptation; protective variants; adaptation arsenic; atacama desert ... See more keywords
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Rare protective variants and glaucoma-relevant cell stressors modulate angiopoietin-like 7 expression.

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Published in 2023 at "Human molecular genetics"

DOI: 10.1093/hmg/ddad083

Abstract: Rare missense and nonsense variants in the Angiopoietin-like 7 (ANGPTL7) gene confer protection from primary open-angle glaucoma (POAG), though the functional mechanism remains uncharacterized. Interestingly, larger variant effect size strongly correlates with in silico predictions… read more here.

Keywords: cell stressors; expression; protective variants; angiopoietin like ... See more keywords
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Identification of candidate protective variants for common diseases and evaluation of their protective potential

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Published in 2017 at "BMC Genomics"

DOI: 10.1186/s12864-017-3964-3

Abstract: BackgroundHuman polymorphisms with derived alleles that are protective against disease may provide powerful translational opportunities. Here we report a method to identify such candidate polymorphisms and apply it to common non-synonymous SNPs (nsSNPs) associated with… read more here.

Keywords: protective variant; protective variants; common diseases; disease ... See more keywords