Variants with a relatively high frequency in the CACNA1H gene have previously been identified in cases of childhood absence epilepsy (CAE) in the Chinese Han population most of which are located in exons 6 to 12. In present study we attempted to further investigate whether the CACNA1H gene is associated with CAE. Exons 6 to 12 of CACNA1H gene were sequenced in samples of 100 CAE trios recruited consecutively, and 191 normal human controls. Single nucleotide polymorphisms (SNPs) were studied in both single locus and haplotype analyses in 218 CAE trios, of which 118 trios were selected from our previous research. Case-control comparisons and the transmission disequilibrium test (TDT) both supported a coding SNP (cSNP) rs9934839 (R603R) in exon 9 as being close related to CAE. The carriers of the G allele of rs9934839 had a 3-fold higher risk of CAE than non-carriers. Moreover, another cSNP rs8044363 was predicted to be connected directly with CAE in a Bayesian network. In addition, two haplotypes consisting of five cSNPs in the region of CACNA1H were statistically associated with CAE. Our research provides new evidence to further support the hypothesis that CACNA1H may be an important susceptibility gene for CAE in the Chinese Han population.
第一作者机构：[1]Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China;[2]Beijing Childrens Hosp, Beijing 100045, Peoples R China;[3]Capital Inst Pediat, Beijing 100020, Peoples R China;[4]Chinese Acad Med Sci, Natl Lab Med Mol Biol, Inst Basic Med Sci, Beijing 100005, Peoples R China;[5]Jilin Univ, Hosp 1, Changchun 130021, Peoples R China;[6]Peking Univ, Dept Pediat, Hosp 1, 8 Xishiku St, Beijing 100034, Peoples R China
通讯作者：
通讯机构：[1]Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China;[2]Beijing Childrens Hosp, Beijing 100045, Peoples R China;[3]Capital Inst Pediat, Beijing 100020, Peoples R China;[4]Chinese Acad Med Sci, Natl Lab Med Mol Biol, Inst Basic Med Sci, Beijing 100005, Peoples R China;[5]Jilin Univ, Hosp 1, Changchun 130021, Peoples R China;[6]Peking Univ, Dept Pediat, Hosp 1, 8 Xishiku St, Beijing 100034, Peoples R China
推荐引用方式(GB/T 7714)：
Liang J.,Zhang Y.,Chen Y.,et al.Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population[J].Annals of human genetics.2007,71(3):325-335.doi:10.1111/j.1469-1809.2006.00332.x.
APA：
Liang, J.,Zhang, Y.,Chen, Y.,Wang, J.,Pan, H....&Wu, X..(2007).Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population.Annals of human genetics,71,(3)
MLA：
Liang, J.,et al."Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population".Annals of human genetics 71..3(2007):325-335
