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

Summary Purpose:  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 patie...

Full description

Saved in:
Bibliographic Details
Published in:Epilepsia (Copenhagen) 2011-05, Vol.52 (5), p.975-983
Main 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
Format: Article
Language:English
Subjects:
Absence epilepsy
Animals
Anticonvulsants. Antiepileptics. Antiparkinson agents
Association analysis
Association study
Biological and medical sciences
Brain
Case-Control Studies
chromosome 2
Chromosomes, Human, Pair 2 - genetics
DNA sequencing
Epilepsy
Epilepsy, Absence - genetics
Epilepsy, Tonic-Clonic - genetics
Genes
Genetic Predisposition to Disease - genetics
Genome-Wide Association Study
Genotype
Haplotype blocks
Haplotypes
Haplotypes - genetics
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
INHA gene
Inhibin
Inhibins - genetics
Medical sciences
Nervous system (semeiology, syndromes)
Neurology
Neuropharmacology
Nucleotide sequence
Pharmacology. Drug treatments
Point mutation
Polymorphism, Single Nucleotide - genetics
Rats
Seizures
Seizures - genetics
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Summary Purpose:  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. Methods:  Haplotype block and case–control association analysis was carried out using HAPLOVIEW 4.0 and inhibin alpha subunit (INHA) gene analysis by DNA sequencing. Key Findings:  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. Significance:  The preceding findings suggest that INHA could be a novel candidate susceptibility gene involved in the pathogenesis of JAE or AE associated with GTCS.
ISSN:0013-9580
1528-1167
DOI:10.1111/j.1528-1167.2010.02970.x