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学科主题: 临床医学
题名:
Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population
作者: Liang, J.; Zhang, Y.; Chen, Y.; Wang, J.; Pan, H.; Wu, H.; Xu, K.; Liu, X.; Jiang, Y.; Shen, Y.; Wu, X.
关键词: childhood absence epilepsy ; association analysis ; single nucleotide polymorphisms ; CACNA1H ; Chinese
刊名: ANNALS OF HUMAN GENETICS
发表日期: 2007-05-01
DOI: 10.1111/j.1469-1809.2006.00332.x
卷: 71, 页:325-335
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: LINKAGE DISEQUILIBRIUM ; TESTS ; HAPLOTYPES ; VARIANTS ; NETWORKS ; CHANNELS ; TRAITS ; DNA
英文摘要:

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.

语种: 英语
WOS记录号: WOS:000245691800006
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/57649
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Beijing Childrens Hosp, Beijing 100045, Peoples R China
2.Capital Inst Pediat, Beijing 100020, Peoples R China
3.Jilin Univ, Hosp 1, Changchun 130021, Peoples R China
4.Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China
5.Chinese Acad Med Sci, Natl Lab Med Mol Biol, Inst Basic Med Sci, Beijing 100005, Peoples R China

Recommended Citation:
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,2007,71:325-335.
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