Browsing by Author "Dhriti Sengupta"
Now showing 1 - 3 of 3
- Results Per Page
- Sort Options
Item Carriers of Heterozygous LossofFunction ACE Mutations Are at Risk for Alzheimers DiseaseS M Danilov; I A Adzhubei; A J Kozuch; P A Petukhov; Ananyo Choudhury; Dhriti Sengupta; E et alItem Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits(2022-05-11) Ananyo Choudhury; Jean-Tristan Brandenburg; Tinashe Chikowore; Dhriti Sengupta; Palwende Romuald Boua; Nigel J. Crowther; Godfred Agongo; Gershim Asik; F. Xavier Gómez-Olivé; Isaac Kisiangani; Eric Maimela; Matshane Masemola-Maphutha; Lisa K. Micklesfield; Engelbert A. Nonterah; Shane A. Norris; Hermann Sorgho; Halidou Tinto; Stephen Tollman; Sarah E. Graham; Cristen J. Willer; AWI-Gen study; H3Africa Consortium; Scott Hazelhurst; Michèle RamsayGenetic associations for lipid traits have identified hundreds of variants with clear differences across European, Asian and African studies. Based on a sub-Saharan-African GWAS for lipid traits in the population cross-sectional AWI-Gen cohort (N = 10,603) we report a novel LDL-C association in the GATB region (P-value=1.56 × 10−8). Meta-analysis with four other African cohorts (N = 23,718) provides supporting evidence for the LDL-C association with the GATB/FHIP1A region and identifies a novel triglyceride association signal close to the FHIT gene (P-value =2.66 × 10−8). Our data enable fine-mapping of several well-known lipid-trait loci including LDLR, PMFBP1 and LPA. The transferability of signals detected in two large global studies (GLGC and PAGE) consistently improves with an increase in the size of the African replication cohort. Polygenic risk score analysis shows increased predictive accuracy for LDL-C levels with the narrowing of genetic distance between the discovery dataset and our cohort. Novel discovery is enhanced with the inclusion of African data.Item UGT1A1 regulatory variant with potential effect on efficacy of HIV and cancer drugs commonly prescribed in South AfricaJenny Mathew; Phelelani Mpangase; Dhriti Sengupta; S Kwenda; Demetra Mavri-Damelin; Michele Ramsay