NR3C1 gene polymorphism for genetic susceptibility to infantile spasms in a Chinese population
Guang Yang1, Li-Ping Zou, Bing He
1Department of Pediatrics, Chinese PLA General Hospital, Beijing 100853, 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.
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