{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Rajabli F"],"funding":["NIA NIH HHS","BrightFocus Foundation","National Institutes of Health"],"pagination":["115.e1-115.e7"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8851406"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["104"],"pubmed_abstract":["The genetic admixture of Caribbean Hispanics provides an opportunity to discover novel genetic factors in Alzheimer disease (AD). We sought to identify genetic variants for AD through a family-based design using the Puerto Rican (PR) Alzheimer Disease Initiative (PRADI). Whole-genome sequencing (WGS) and parametric linkage analysis were performed for 100 individuals from 23 multiplex PRADI families. Variants were prioritized by minor allele frequency (<0.01), functional potential [combined annotation dependent depletion score (CADD) >10], and co-segregation with AD. Variants were further ranked using an independent PR case-control WGS dataset (PR10/66). A genome-wide significant linkage peak was found in 9p21 with a heterogeneity logarithm of the odds score (HLOD) >5.1, which overlaps with"],"journal":["Neurobiology of aging"],"pubmed_title":["Linkage of Alzheimer disease families with Puerto Rican ancestry identifies a chromosome 9 locus."],"pmcid":["PMC8851406"],"funding_grant_id":["P30 AG066462","R01 AG070864","U01 AG057659","RF1 AG054074","U01 AG058654"],"pubmed_authors":["Celis K","Bussies PL","Mena PR","Chinea A","Rodriguez VC","Reitz C","Griswold AJ","Haines JL","Wang L","Cuccaro ML","Pericak-Vance MA","Rajabli F","Acosta H","Van Booven DJ","Hofmann NK","Cukier HN","Prince MJ","Feliciano NI","Vardarajan BN","Lee JH","Mayeux RP","Adams LD","Dalgard CL","Vance JM","Tejada S","Beecham GW","Hamilton-Nelson KL","Whitehead PL","Prough M","Jimenez IZ","Feliciano-Astacio BE"],"additional_accession":[]},"is_claimable":false,"name":"Linkage of Alzheimer disease families with Puerto Rican ancestry identifies a chromosome 9 locus.","description":"The genetic admixture of Caribbean Hispanics provides an opportunity to discover novel genetic factors in Alzheimer disease (AD). We sought to identify genetic variants for AD through a family-based design using the Puerto Rican (PR) Alzheimer Disease Initiative (PRADI). Whole-genome sequencing (WGS) and parametric linkage analysis were performed for 100 individuals from 23 multiplex PRADI families. Variants were prioritized by minor allele frequency (<0.01), functional potential [combined annotation dependent depletion score (CADD) >10], and co-segregation with AD. Variants were further ranked using an independent PR case-control WGS dataset (PR10/66). A genome-wide significant linkage peak was found in 9p21 with a heterogeneity logarithm of the odds score (HLOD) >5.1, which overlaps with","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Aug","modification":"2026-05-08T11:36:39.823Z","creation":"2025-04-06T09:24:12.978Z"},"accession":"S-EPMC8851406","cross_references":{"pubmed":["33902942"],"doi":["10.1016/j.neurobiolaging.2021.02.019"]}}