| Autor: |
Donald J. Vander Griend, Heather H. Nelson, Jack W. Kent, Habibul Ahsan, Farzana Jasmine, Jason G. Umans, Brandon L. Pierce, Lin Tong, Lyle G. Best, Justin Shinkle, Meytal Chernoff, Joseph H. Graziano, Shelley A. Cole, Dayana A. Delgado, Ana Navas-Acien, Lin Chen, Muhammad G. Kibriya, Karin Haack, Margaret R. Karagas, Lei Huang |
| Rok vydání: |
2021 |
| Předmět: |
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| Zdroj: |
Environmental Health Perspectives |
| ISSN: |
1552-9924 |
| Popis: |
Background: Common genetic variation in the arsenic methyltransferase (AS3MT) gene region is known to be associated with arsenic metabolism efficiency (AME), measured as the percentage of dimethylarsinic acid (DMA%) in the urine. Rare, protein-altering variants in AS3MT could have even larger effects on AME, but their contribution to AME has not been investigated. Objectives: We estimated the impact of rare, protein-coding variation in AS3MT on AME using a multi-population approach to facilitate the discovery of population-specific and shared causal rare variants. Methods: We generated targeted DNA sequencing data for the coding regions of AS3MT for three arsenic-exposed cohorts with existing data on arsenic species measured in urine: Health Effects of Arsenic Longitudinal Study (HEALS, n=2,434), Strong Heart Study (SHS, n=868), and New Hampshire Skin Cancer Study (NHSCS, n=666). We assessed the collective effects of rare (allele frequency |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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