NR3C1 gene polymorphism for genetic susceptibility to infantile spasms in a Chinese population

AimsTo test the genetic association of NR3C1 gene which encodes the glucocorticoid receptor with infantile spasms (IS).Main methodsNine 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 findingsTwo 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.SignificanceThe current experimental results suggest the importance of the NR3C1 gene polymorphism for genetic susceptibility to IS in a Chinese population.