NR3C1 gene polymorphism for genetic susceptibility to infantile spasms in a Chinese population.
OBJECTIVE
To test the genetic association of NR3C1 gene which encodes the glucocorticoid receptor with infantile spasms (IS).


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.


RESULTS
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.


CONCLUSIONS
The current experimental results suggest the importance of the NR3C1 gene polymorphism for genetic susceptibility to IS in a Chinese population.
Department of Pediatrics, Chinese PLA General Hospital, Beijing 100853, PR China.
Guang
G
Yang
Li-Ping
LP
Zou
Bing
B
He
Ying-Xue
YX
Ding
Jing
J
Wang
Xiu-Yu
XY
Shi
Yan-Hong
YH
Sun
Fei-Yong
FY
Jia
D000324:Adrenocorticotropic Hormone / Q000627:therapeutic use; D044466:Asian People / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006728:Hormones / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011965:Receptors, Glucocorticoid / Q000235:genetics*; D013036:Spasms, Infantile / Q000188:drug therapy / Q000235:genetics*
D006728:Hormones; C497713:NR3C1 protein, human; D011965:Receptors, Glucocorticoid; D000324:Adrenocorticotropic Hormone