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.
abstract: OBJECTIVE
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  The preceding findings suggest that INHA could be a novel candidate susceptibility gene involved in the pathogenesis of JAE or AE associated with GTCS.
authors.affiliation: Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.
authors.forename: Ozlem
authors.initials: O
authors.lastname: Yalçin
authors.forename: Betül
authors.initials: B
authors.lastname: Baykan
authors.forename: Kadriye
authors.initials: K
authors.lastname: Ağan
authors.forename: Zuhal
authors.initials: Z
authors.lastname: Yapici
authors.forename: Destina
authors.initials: D
authors.lastname: Yalçin
authors.forename: Gülşen
authors.initials: G
authors.lastname: Dizdarer
authors.forename: Dilşad
authors.initials: D
authors.lastname: Türkdoğan
authors.forename: Ciğdem
authors.initials: C
authors.lastname: Ozkara
authors.forename: Aycan
authors.initials: A
authors.lastname: Unalp
authors.forename: Derya
authors.initials: D
authors.lastname: Uludüz
authors.forename: Günay
authors.initials: G
authors.lastname: Gül
authors.forename: Demet
authors.initials: D
authors.lastname: Kuşcu
authors.forename: Semih
authors.initials: S
authors.lastname: Ayta
authors.forename: Kemal
authors.initials: K
authors.lastname: Tutkavul
authors.forename: Sinan
authors.initials: S
authors.lastname: Comu
authors.forename: Burak
authors.initials: B
authors.lastname: Tatli
authors.forename: Cihan
authors.initials: C
authors.lastname: Meral
authors.forename: Nerses
authors.initials: N
authors.lastname: Bebek
authors.forename: Server Hande
authors.initials: SH
authors.lastname: Cağlayan
mesh_terms: D000818:Animals; D016022:Case-Control Studies; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D004832:Epilepsy, Absence / Q000235:genetics*; D004830:Epilepsy, Tonic-Clonic / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D055106:Genome-Wide Association Study; D005838:Genotype; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007265:Inhibins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D051381:Rats; D012640:Seizures / Q000235:genetics*
chemical_list: C094377:inhibin-alpha subunit; D007265:Inhibins