Common polygenic variation contributes to risk of migraine in the Norfolk Island population
Rodriguez-Acevedo, Astrid J., Ferreira, Manuel A., Benton, Miles C., Carless, Melanie A., Göring, Harald H., Curran, Joanne E., Blangero, John, Lea, Rod A., & Griffiths, Lyn R. (2015) Common polygenic variation contributes to risk of migraine in the Norfolk Island population. Human Genetics, 134(10), pp. 1079-1087.
Migraine has been defined as a common disabling primary headache disorder. Epidemiology studies have provided with the undeniable evidence of genetic components as active players in the development of the disease under a polygenic model in which multiple risk alleles exert modest individual effects. Our objective was to test the contribution of a polygenic effect to migraine risk in the Norfolk Island population using a panel of SNPs reported to be disease associated in published migraine GWAS. We also investigated whether individual SNPs were associated with gene expression levels measured in whole-blood. Polygenic scores were calculated in a total of 285 related individuals (74 cases, 211 controls) from the Norfolk Island using 51 SNPs previously reported to be associated with migraine in published GWAS. The association between polygenic score and migraine case-control status was tested using logistic regression. Results indicate that a migraine polygenic risk score was associated with migraine case-control status in this population (P=0.016). This supports the hypothesis that multiple SNPs with weak effects collectively contribute to migraine risk in this population. Amongst the SNPs included in the polygenic model, 4 were associated with the expression of the USMG5 gene, including rs171251 (P = 0.012). Results from this study provide evidence for a polygenic contribution to migraine risk in an isolated population and highlight specific SNPs that regulate the expression of USMG5, a gene critical for mitochondrial function.
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|Item Type:||Journal Article|
|Keywords:||migraine, polygenic score, eQTL analysis, genetic isolate, USMG5|
|Divisions:||Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
|Copyright Owner:||Copyright 2015 Springer|
|Copyright Statement:||The final publication is available at Springer via http://dx.doi.org/10.1007/s00439-015-1587-9|
|Deposited On:||23 Sep 2015 23:13|
|Last Modified:||08 Nov 2016 13:49|
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