Open AccessGene‐Wide Tagging Study of the Association Between KCNT 1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population
Author(s) -
Qu Jian,
Zhang Ying,
Yang ZhiQuan,
Mao XiaoYuan,
Zhou BoTing,
Yin JiYe,
He Hui,
Li XiangPing,
Long HongYu,
Lv Nan,
Xu XiaoJing,
Xiao Bo,
Zhang Yu,
Tang Qiang,
Hu DongLi,
Zhou HongHao,
Liu ZhaoQian
Publication year - 2014
Publication title -
cns neuroscience and therapeutics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.403
H-Index - 69
eISSN - 1755-5949
pISSN - 1755-5930
DOI - 10.1111/cns.12169
Subject(s) - haplotype , single nucleotide polymorphism , idiopathic generalized epilepsy , genetics , snp , allele , population , genotype , linkage disequilibrium , biology , epilepsy , medicine , gene , neuroscience , environmental health
Summary Aims The causes of genetic generalized epilepsies ( GGE s) are still uncertain now. Some studies found that the human potassium channel, subfamily T, member 1 ( KCNT 1 ) is the candidate gene causing malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy which are all rare genetic generalized epilepsies. The aims of this study were going to evaluate the association between KCNT 1 common variations and the susceptibility and drug resistance of genetic generalized epilepsies in Chinese population. Methods The allele‐specific MALDI – TOF mass spectrometry method was used to assess 17 tag SNP s (tagged single‐nucleotide polymorphisms) of KCNT 1 in 284 healthy Chinese controls and 483 Chinese GGE s patients including 279 anti‐epileptic drug‐responsive patients and 204 drug‐resistant patients. Results Genotype distributions of all the selected tag SNP s were consistent with Hardy–Weinberg equilibrium in GGE s and healthy controls. None of the all 17 tag SNP s alleles were found to be related with the susceptibility and drug resistance of genetic generalized epilepsies. The frequencies of haplotype 5 and haplotype 1 were significantly lower in GGE s than that in healthy controls (2% vs. 4%, OR = 0.47 [0.27–0.94], P = 0.03) and obviously higher in drug‐resistant patients than that in drug‐response patients (6% vs. 3%, OR = 2.56 [1.23–5.35], P = 0.01). However, after the correction of multiple comparisons with Bonferroni's method, we found that the above two haplotypes were not associated with the susceptibility and drug resistance in GGE s and healthy controls. Conclusion This gene‐wide tagging study revealed no association between KCNT 1 17 common variations and susceptibility of GGE s or AED s (anti‐epileptic drugs) efficacy of genetic generalized epilepsies in Chinese population.