Affiliations: Department of Pediatrics, Peking University First
Hospital, Beijing, P.R. China | Department of Central Laboratory, Peking University
First Hospital, P.R. China | Bejing Children's Hospital, Beijing, P.R. China | Capital Institute of Pediatrics , Beijing, P.R.
China | Laboratory of Molecular Biology, Laboratory of
Epidemiology, Hebei Cancer Institute, Hebei Medical University, Shijiazhuang,
P.R. China | Department of Neurology, People's Hospital of Hebei
Province, Shijiazhuang, P.R. China
Note: [] Correspondence: Ql Yu, MD, Department of Central Laboratory,
Peking University First Hospital, No. 8 Xishiku Street, 100034, Beijing, P.R.
China. Tel.: +86 10 66551122-2044; Fax: +86 10 66551036; E-mail:
qiyu0724@yahoo.com
Abstract: Febrile seizures (FS) are considered as a genetic disease, but the
specific genes responsible for it have not yet been identified. Based on our
previous linkage analysis data that mapped our simple FS families to 19p13.3
and the function of the genes in this region, four genes (HCN2, NRTN, CAPS and
GPX4) were chosen as candidate genes for FS. To investigate the possibility of
association of these four genes with FS in Chinese Han population, we
systematically screened all exons and their flanking introns of the four genes
and found 22 single nucleotide polymorphisms (SNPs). Using nine of the SNPs as
markers, we conducted association studies in 60 FS patients and 101 normal
controls. No significant discrepancies between the FS cases and controls were
found in allele and genotype frequencies of the four SNPs in HCN2 gene, one SNP
in NRTN gene, one SNP in CAPS gene and three SNPs in GPX4 gene. Our results
imply that the four genes are not the susceptibility genes for FS at least in
Chinese population.
Keywords: Febrile seizures, single nucleotide polymorphism, linkage, Chinese
