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

The role of protective genetic variants in modulating epigenetic aging

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Published in 2025 at "GeroScience"

DOI: 10.1007/s11357-025-01548-2

Abstract: Several progeroid syndromes’ causative mutations have been linked to epigenetic age acceleration as measured via several epigenetic clocks. At the same time, several protective variants have also been discovered that can reduce the risk of… read more here.

Keywords: age; role protective; epigenetic aging; protective variants ... See more keywords

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

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