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Medicine and Health Sciences

2019

Journal of Health Disparities Research and Practice

APOL1 CKD Risk Alleles

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Apol1 Ckd Risk Alleles In New Mexico African American And American Indian Populations: Racial Disparity, Chien-An A. Hu, Amelia Bierle, Matthew Shultz, Vallabh Shah Nov 2019

Apol1 Ckd Risk Alleles In New Mexico African American And American Indian Populations: Racial Disparity, Chien-An A. Hu, Amelia Bierle, Matthew Shultz, Vallabh Shah

Journal of Health Disparities Research and Practice

Purpose/Background: Two haplotypes of human apolipoprotein L1 gene (gene: APOL1; protein: ApoL1) harboring three coding sequence mutations have been demonstrated as risk variants associated with non-diabetic chronic kidney diseases (CKD) in African Americans. The first one, termed G1, is a two non-synonymous SNP haplotype (rs73885319 (A>G; p.S342G) and rs60910145 (G>T; p.I384M). The second one, termed G2, is a two codon deletion haplotype rs71785313 (6-bp in frame deletion) These two coding-sequence variants have been discovered in CKD patients of African ancestry and linked to the pathogenesis of primary focal and segmental glomerulosclerosis (FSGS), hypertension-attributed kidney disease, and HIV-associated nephropathy …