单位：[1]Department of Pediatrics, Chinese PLA General Hospital, Beijing 100853, PR China[2]Department of Neurology, Beijing Children's Hospital, the Capital Medical University, Beijing 100045, PR China首都医科大学附属北京儿童医院[3]Division of Matrix Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden[4]Department of Pediatrics, Beijing Friendship Hospital, the Capital Medical University, Beijing 100050, PR China临床科室儿科儿科首都儿科研究所首都医科大学附属北京友谊医院[5]Department of Pediatrics, CangZhou Central Hospital, CangZhou, Hebei Province 061001, PR China[6]Department of Pediatrics, First Hospital of Jilin University, Changchun 130021, PR China
Aims: To test the genetic association of NR3C1 gene which encodes the glucocorticoid receptor with infantile spasms (IS). Main methods: Nine single nucleotide polymorphisms (SNPs) within the NR3C1 gene were genotyped in a sample set of 128 cases and 131 controls. Association analysis was performed on the genotyped data. Key findings: Two SNPs, rs10482672 and rs2963155, showed nominal associations with IS (P = 0.018, OR = 1.89, 95% CI = 1.11-3.22, for rs10482672; P = 0.04. OR = 1.70, 95% CI = 1.03-2.81 for rs2963155) under the assumption of a dominant model. The haplotype TG of two SNPs (rs6877893 and rs4912905) was associated with a decreased risk of IS (P = 0.038, OR = 0.66,95% CI = 0.45-0.98), whereas haplotype TC being homozygous was associated with an increased risk of IS (P = 0.015, OR = 2.60,95% CI = 1.20-5.60). The rs6866893 was also associated with the responsiveness of adrenocorticotropic hormone. Significance: The current experimental results suggest the importance of the NR3C1 gene polymorphism for genetic susceptibility to IS in a Chinese population. (C) 2012 Elsevier Inc. All rights reserved.
基金：
Major State Basic Research Development Program (973)National Basic Research Program of China [2012CB517904]; National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [30770747, 30801249, 81071036]; Beijing Municipal Natural Science FoundationBeijing Natural Science Foundation [7081002, 7042024]; Capital Development Foundation of Beijing [2003-2037]; Hygiene Industry-specific Research Projects of China [200802074]
语种：
外文
被引次数：
WOS：
中科院(CAS)分区：
出版当年[2011]版：
大类|3 区医学
小类|3 区医学：研究与实验3 区药学
最新[2025]版：
大类|3 区医学
小类|2 区药学3 区医学：研究与实验
JCR分区：
出版当年[2010]版：
Q2MEDICINE, RESEARCH & EXPERIMENTALQ2PHARMACOLOGY & PHARMACY
最新[2023]版：
Q1MEDICINE, RESEARCH & EXPERIMENTALQ1PHARMACOLOGY & PHARMACY
第一作者单位：[1]Department of Pediatrics, Chinese PLA General Hospital, Beijing 100853, PR China
通讯作者：
通讯机构：[1]Department of Pediatrics, Chinese PLA General Hospital, Beijing 100853, PR China[2]Department of Neurology, Beijing Children's Hospital, the Capital Medical University, Beijing 100045, PR China[*1]Department of Pediatrics, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, PR China
推荐引用方式(GB/T 7714)：
Yang Guang,Zou Li-Ping,He Bing,et al.NR3C1 gene polymorphism for genetic susceptibility to infantile spasms in a Chinese population[J].LIFE SCIENCES.2012,91(1-2):37-43.doi:10.1016/j.lfs.2012.06.010.
APA：
Yang, Guang,Zou, Li-Ping,He, Bing,Ding, Ying-Xue,Wang, Jing...&Jia, Fei-Yong.(2012).NR3C1 gene polymorphism for genetic susceptibility to infantile spasms in a Chinese population.LIFE SCIENCES,91,(1-2)
MLA：
Yang, Guang,et al."NR3C1 gene polymorphism for genetic susceptibility to infantile spasms in a Chinese population".LIFE SCIENCES 91..1-2(2012):37-43
