Linkage of Alzheimer Disease Families with Puerto Rican Ancestry Identifies a Chromosome 9 Locus
| Autor: | Larry D. Adams, Jonathan L. Haines, Farid Rajabli, Jeffery M. Vance, Vanessa C. Rodriguez, Liyong Wang, Kara L. Hamilton-Nelson, Ivonne Jimenez, Angel Chinea, Patrice L. Whitehead, Michael Prough, Margaret A. Pericak-Vance, Nereida I. Feliciano, Joseph H. Lee, Martin Prince, Derek J. Van Booven, Katrina Celis, Gary W. Beecham, Michael L. Cuccaro, Heriberto Acosta, Anthony J. Griswold, Badri N. Vardarajan, Holly N. Cukier, Christiane Reitz, Sergio Tejada, Clifton L. Dalgard, Pedro Ramon Mena, Richard Mayeux, Briseida E. Feliciano-Astacio, Natalia K. Hofmann, Parker Bussies |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Aging Genetic Linkage Genetic admixture Chromosome 9 Locus (genetics) Nerve Tissue Proteins Biology Article 03 medical and health sciences 0302 clinical medicine Genetic linkage C9orf72 Alzheimer Disease medicine Humans Linkage (software) Genetics C9orf72 Protein Whole Genome Sequencing General Neuroscience Genetic Variation Hispanic or Latino medicine.disease Minor allele frequency 030104 developmental biology Neurology (clinical) Geriatrics and Gerontology Alzheimer's disease Chromosomes Human Pair 9 030217 neurology & neurosurgery Developmental Biology Genome-Wide Association Study |
| Zdroj: | Neurobiol Aging |
| Popis: | 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 (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 an AD linkage region from two published independent studies. The region harbors C9orf72, but no expanded repeats were observed in the families. Seven variants prioritized by the PRADI families also displayed evidence for association in the PR10/66 (P |
| Databáze: | OpenAIRE |
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