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- Title
An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic-clonic seizures.
- Authors
Yalçin, Özlem; Baykan, Betül; Ağan, Kadriye; Yapici, Zuhal; Yalçin, Destina; Dizdarer, Gülşen; Türkdoğan, Dilşad; Özkara, Çiğdem; Ünalp, Aycan; Uludüz, Derya; Gül, Günay; Kuşcu, Demet; Ayta, Semih; Tutkavul, Kemal; Çomu, Sinan; Tatli, Burak; Meral, Cihan; Bebek, Nerses; Çağlayan, Server Hande
- Abstract
To further evaluate the previously shown linkage of absence epilepsy (AE) to 2q36, both in human and WAG/Rij absence rat models, a 160-kb region at 2q36 containing eight genes with expressions in the brain was targeted in a case-control association study involving 205 Turkish patients with AE and 219 controls. Haplotype block and case-control association analysis was carried out using HAPLOVIEW 4.0 and inhibin alpha subunit ( INHA) gene analysis by DNA sequencing. An association was found between the G allele of rs7588807 located in the INHA gene and juvenile absence epilepsy (JAE) syndrome and patients having generalized tonic-clonic seizures (GTCS) with p-values of 0.003 and 0.0002, respectively (uncorrected for multiple comparisons). DNA sequence analysis of the INHA gene in 110 JAE/GTCS patients revealed three point mutations with possible damaging effects on inhibin function in three patients and the presence of a common ACTC haplotype (H1) with a possible dominant protective role conferred by the T allele of rs7588807 with respective p-values of 0.0005 and 0.0014. The preceding findings suggest that INHA could be a novel candidate susceptibility gene involved in the pathogenesis of JAE or AE associated with GTCS.
- Subjects
EPILEPSY; DNA; GENE frequency; SPASMS; INHIBIN; CARCINOGENESIS
- Publication
Epilepsia (Series 4), 2011, Vol 52, Issue 5, p975
- ISSN
0013-9580
- Publication type
Article
- DOI
10.1111/j.1528-1167.2010.02970.x