Parkinson disease loci in the mid-western Amish.

Davis MF, Cummings AC, D'Aoust LN, Jiang L, Velez Edwards DR, Laux R, Reinhart-Mercer L, Fuzzell D, Scott WK, Pericak-Vance MA, Lee SL, Haines JL
Hum Genet. 2013 132 (11): 1213-21

PMID: 23793441 · PMCID: PMC3797866 · DOI:10.1007/s00439-013-1316-1

Previous evidence has shown that Parkinson disease (PD) has a heritable component, but only a small proportion of the total genetic contribution to PD has been identified. Genetic heterogeneity complicates the verification of proposed PD genes and the identification of new PD susceptibility genes. Our approach to overcome the problem of heterogeneity is to study a population isolate, the mid-western Amish communities of Indiana and Ohio. We performed genome-wide association and linkage analyses on 798 individuals (31 with PD), who are part of a 4,998 member pedigree. Through these analyses, we identified a region on chromosome 5q31.3 that shows evidence of association (p value < 1 × 10(-4)) and linkage (multipoint HLOD = 3.77). We also found further evidence of linkage on chromosomes 6 and 10 (multipoint HLOD 4.02 and 4.35 respectively). These data suggest that locus heterogeneity, even within the Amish, may be more extensive than previously appreciated.

MeSH Terms (17)

Amish Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 10 Computational Biology Genetic Linkage Genetic Loci Genetic Predisposition to Disease Genome, Human Genome-Wide Association Study Genotype Humans Indiana Ohio Parkinson Disease Pedigree Polymorphism, Single Nucleotide

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