The 82nd Annual Meeting of the American Association of Physical Anthropologists (2013)

Genome-wide associations for Parkinson’s disease on the X chromosome


1Department of Biological Anthropology, Temple University, 2Neurogenetics, National Institute on Aging, NIH

Friday 5:15-5:30, 200ABC Add to calendar

Nearly all genome-wide association studies (GWAS) published in the last 5 years focus on identifying novel associations within the autosomal chromosomes. Genomic regions located on the sex chromosomes are included on most current microarray platforms, yet little attention has been given to these regions in GWAS. Sex chromosome variants are often excluded from GWAS analyses because of a preference for statistical methods that test the association between phenotype and autosomal genotype. However, appropriate techniques do exist, and much can be gained from analyzing these regions. We employed imputed genotyped data from 6 European ancestry cohorts containing 9,511 control and 8,497 case individuals. We tested for genome wide associations to Parkinson’s disease status on the X chromosome. Our results are currently pending validation in another study cohort, but indicate number of statistically significant, small-effect SNPs clustered throughout the X chromosome confer risk to Parkinson’s disease development. In addition, our utilization of X-chromosome GWA data facilitates a more comprehensive understanding of the complex disease architecture of Parkinson’s disease in a previously unexplored region of the genome. Continued development of study designs examining the sex chromosomes and disease status are necessary, and our work documents the applicability of GWA analyses to complex diseases in the X chromosome.

The authors received no specific funding for this work.

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