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A possible association of responsiveness to adrenocorticotropic hormone with specific GRIN1 haplotypes in infantile spasms
Ding, Ying-Xue1,2; Zhang, Ying1,2; He, Bing3; Yue, Wei-Hua4,5; Zhang, Dai4,5; Zou, Li-Ping1,2
刊名DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
2010-11-01
DOI10.1111/j.1469-8749.2010.03746.x
52期:11页:1028-1032
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology ; Pediatrics
资助者National Natural Science Foundation of China ; Beijing Municipal Natural Science Foundation ; Capital Development Foundation of Beijing ; Hygiene industry-specific research projects of China ; National Natural Science Foundation of China ; Beijing Municipal Natural Science Foundation ; Capital Development Foundation of Beijing ; Hygiene industry-specific research projects of China
研究领域[WOS]Neurosciences & Neurology ; Pediatrics
关键词[WOS]METHYL-D-ASPARTATE ; GENE-EXPRESSION ; NMDA RECEPTORS ; NEURONS ; ACTH ; SUBUNIT ; BRAIN ; MODEL ; MICE
英文摘要

Aim

Adrenocorticotropic hormone (ACTH) has been used as the major therapy for infantile spasms since 1958 because it effectively suppresses seizures; it also normalizes the electroencephalogram in the short-term treatment of infantile spasms. G protein-regulated inducer of neurite outgrowth 1 (GRIN1, also known as N-methyl-d-aspartate receptor 1, NMDAR1), a glutamate receptor, is the main component of functional N-methyl-d-aspartic acid receptors that are involved in the glucocorticoid-induced neuronal damage. Thus, it may be a candidate gene to be tested for responsiveness to ACTH in infantile spasms. In the present study, polymorphisms in the GRIN1 gene in infantile spasms were investigated using a case-control design.

Method

Twelve single nucleotide polymorphisms in the GRIN1 gene were genotyped in a Chinese case-control set consisting of 97 unrelated patients with infantile spasms (60 males, 37 females; mean age 6.4mo, SD 2.7) and 96 healthy individuals (63 males, 33 females; mean age 7.3mo, SD 3.8). Association analysis was performed on the genotyped data.

Results

Five estimated haplotypes with a frequency of more than 3% were detected. Results of the study showed that responsiveness to treatment with ACTH in homozygous carriers of the CTA haplotype was higher than that in heterozygous carriers and non-carriers (p=0.022). Furthermore, CTG, a rare haplotype, was strongly associated with infantile spasms (p=0.013).

Interpretation

The results suggest that haplotypes of GRIN1 may influence responsiveness to ACTH. The findings necessitate further study for confirmation.

语种英语
所属项目编号30770747 ; 7081002 ; 7042024 ; 2003-2037 ; 200802074
资助者National Natural Science Foundation of China ; Beijing Municipal Natural Science Foundation ; Capital Development Foundation of Beijing ; Hygiene industry-specific research projects of China ; National Natural Science Foundation of China ; Beijing Municipal Natural Science Foundation ; Capital Development Foundation of Beijing ; Hygiene industry-specific research projects of China
WOS记录号WOS:000282688800017
引用统计
被引频次:15[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/62729
专题北京大学精神卫生研究所
作者单位1.Peking Univ, Inst Mental Hlth, Beijing 100871, Peoples R China
2.Minist Hlth Beijing, Key Lab Mental Hlth, Beijing, Peoples R China
3.Chinese Peoples Liberat Army Gen Hosp, Dept Paediat, Beijing 100853, Peoples R China
4.Capital Med Univ, Beijing Childrens Hosp, Dept Neurol, Beijing, Peoples R China
5.Karolinska Inst, Dept Med Biochem & Biophys, Div Matrix Biol, Stockholm, Sweden
推荐引用方式
GB/T 7714
Ding, Ying-Xue,Zhang, Ying,He, Bing,et al. A possible association of responsiveness to adrenocorticotropic hormone with specific GRIN1 haplotypes in infantile spasms[J]. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY,2010,52(11):1028-1032.
APA Ding, Ying-Xue,Zhang, Ying,He, Bing,Yue, Wei-Hua,Zhang, Dai,&Zou, Li-Ping.(2010).A possible association of responsiveness to adrenocorticotropic hormone with specific GRIN1 haplotypes in infantile spasms.DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY,52(11),1028-1032.
MLA Ding, Ying-Xue,et al."A possible association of responsiveness to adrenocorticotropic hormone with specific GRIN1 haplotypes in infantile spasms".DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY 52.11(2010):1028-1032.
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