title: Association analysis of polymorphisms of the CRHR1 gene with infantile spasms.
abstract: While >200 types of etiologies have been shown to be involved in the pathogenesis of infantile spasms, the pathophysiology of infantile spasms remains largely elusive. Pre-natal stress and hypothalamic-pituitary-adrenal axis dysfunction were shown to be involved in the development of infantile spasms. To test the genetic association between the CRHR1 gene, which encodes the corticotrophin-releasing hormone (CRH) receptor, and infantile spasms, five single nucleotide polymorphisms (SNPs) in the CRHR1 gene were genotyped in a sample set of 128 cases with infantile spasms and 131 healthy controls. Correlation analysis was performed on the genotyped data. Under the assumption of the dominant model, the selected five SNPs, rs4458044, rs171440, rs17689966, rs28364026 and rs242948, showed no association with the risk of infantile spasms and the effectiveness of adrenocorticotropic hormone treatment. In addition, subsequent haplotype analysis suggested none of them was associated with infantile spasms. In conclusion, the experimental results of the present study suggested no association between the CRHR1 gene and infantile spasms in a Chinese population.
authors.affiliation: Department of Pediatrics, Chinese PLA General Hospital, Beijing 100853, P.R. China.
authors.forename: Guang
authors.initials: G
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, Chinese PLA General Hospital, Beijing 100853, P.R. China.
authors.forename: Li-Ping
authors.initials: LP
authors.lastname: Zou
authors.affiliation: Department of Pediatrics, Chinese PLA General Hospital, Beijing 100853, P.R. China.
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Pediatrics, Chinese PLA General Hospital, Beijing 100853, P.R. China.
authors.forename: Xiu-Yu
authors.initials: XY
authors.lastname: Shi
authors.affiliation: Department of Pediatrics, Chinese PLA General Hospital, Beijing 100853, P.R. China.
authors.forename: Xiao-Fan
authors.initials: XF
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, Chinese PLA General Hospital, Beijing 100853, P.R. China.
authors.forename: Bin
authors.initials: B
authors.lastname: Wang
authors.affiliation: Department of Pediatrics, Chinese PLA General Hospital, Beijing 100853, P.R. China.
authors.forename: Yu-Jie
authors.initials: YJ
authors.lastname: Liu
authors.affiliation: Department of Pediatrics, Cangzhou Central Hospital, Cangzhou, Hebei 061001, P.R. China.
authors.forename: Yan-Hong
authors.initials: YH
authors.lastname: Sun
authors.affiliation: Department of Pediatrics, First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.
authors.forename: Fei-Yong
authors.initials: FY
authors.lastname: Jia
mesh_terms: D000324:Adrenocorticotropic Hormone / Q000627:therapeutic use; D000483:Alleles; D044466:Asian People; D016022:Case-Control Studies; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000378:metabolism / Q000503:physiopathology; D007223:Infant; D008297:Male; D008957:Models, Genetic; D010913:Pituitary-Adrenal System / Q000378:metabolism / Q000503:physiopathology; D020641:Polymorphism, Single Nucleotide; D018019:Receptors, Corticotropin-Releasing Hormone / Q000235:genetics*; D013036:Spasms, Infantile / Q000188:drug therapy / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D000099052:CRF Receptor, Type 1
chemical_list: D018019:Receptors, Corticotropin-Releasing Hormone; D000099052:CRF Receptor, Type 1; D000324:Adrenocorticotropic Hormone