Genome-wide association study of epilepsy in a Japanese population identified an associated region at chromosome 12q24
| Autor: | Kazuhiro Yamakawa, Chikashi Terao, Yoichiro Kamatani, Atsushi Takahashi, Kyota Ashikawa, Yukihide Momozawa, Yoshinao Koike, Michiaki Kubo, Naoyuki Kamatani, Tomomi Aoi, Nao Otomo, Toshimitsu Suzuki, Yusuke Nakamura |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Genotype Quantitative Trait Loci Genome-wide association study Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide 03 medical and health sciences Epilepsy symbols.namesake 0302 clinical medicine Asian People Japan medicine SNP Humans Genetic Predisposition to Disease Gene Genetic association Genetics Chromosomes Human Pair 12 medicine.disease 030104 developmental biology Neurology Gene Expression Regulation Case-Control Studies Expression quantitative trait loci Mendelian inheritance symbols Neurology (clinical) 030217 neurology & neurosurgery Genome-Wide Association Study |
| Zdroj: | EpilepsiaREFERENCES. 62(6) |
| ISSN: | 1528-1167 |
| Popis: | Objective Although a number of genes responsible for epilepsy have been identified through Mendelian genetic approaches, and genome-wide association studies (GWASs) have implicated several susceptibility loci, the role of ethnic-specific markers remains to be fully explored. We aimed to identify novel genetic associations with epilepsy in a Japanese population. Methods We conducted a GWAS on 1825 patients with a variety of epilepsies and 7975 control individuals. Expression quantitative trait locus (eQTL) analysis of epilepsy-associated single nucleotide polymorphisms (SNPs) was performed using Japanese eQTL data. Results We identified a novel region, which is ~2 Mb (lead SNP rs149212747, p = 8.57 × 10-10 ), at chromosome 12q24 as a risk for epilepsy. Most of these loci were polymorphic in East Asian populations including Japanese, but monomorphic in the European population. This region harbors 24 transcripts including genes expressed in the brain such as CUX2, ATXN2, BRAP, ALDH2, ERP29, TRAFD1, HECTD4, RPL6, PTPN11, and RPH3A. The eQTL analysis revealed that the associated SNPs are also correlated to differential expression of genes at 12q24. Significance These findings suggest that a gene or genes in the CUX2-RPH3A ~2-Mb region contribute to the pathology of epilepsy in the Japanese population. |
| Databáze: | OpenAIRE |
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