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- Publisher
- Wiley
- Copyright
- Copyright © 2006 Wiley‐Liss, Inc., A Wiley Company
- ISSN
- 1552-4841
- eISSN
- 1552-485X
- DOI
- 10.1002/ajmg.b.30303
- pmid
- 16673375
- Publisher site
- See Article on Publisher Site
Abstract
Previous results from our genetic analyses using pedigrees from a French Canadian population suggested that the interval delimited by markers on chromosome 12, D12S86 and D12S378, was the most probable genomic region to contain a susceptibility gene for affective disorders. Association studies with microsatellite markers using a case/control sample from the same population (n = 427) revealed significant allelic associations between the bipolar phenotype and marker NBG6. Since this marker is located in intron 9 of the P2RX7 gene, we analyzed the surrounding genomic region for the presence of polymorphisms in regulatory, coding and intron/exon junction sequences. Twenty four (24) SNPs were genotyped in a case/control sample and 12 SNPs in all pedigrees used for linkage analysis. Allelic, genotypic or family‐based association studies suggest the presence of two susceptibility loci, the P2RX7 and CaMKK2 genes. The strongest association was observed in bipolar families at the non‐synonymous SNP P2RX7‐E13A (rs2230912, P‐value = 0.000708), which results from an over‐transmission of the mutant G‐allele to affected offspring. This Gln460Arg polymorphism occurs at an amino acid that is conserved between humans and rodents and is located in the C‐terminal domain of the P2X7 receptor, known to be essential for normal P2RX7 function. © 2006 Wiley‐Liss, Inc.
Journal
American Journal of Medical Genetics part B – Wiley
Published: Jun 5, 2006
Keywords: bipolar disorder; association analysis; linkage disequilibrium; purinergic receptor