Association of IL-23 and its receptor gene single-nucleotide polymorphisms with multiple sclerosis in Chinese southern population

The subunit of IL-23 (IL12B) and its receptor (IL23R) gene single-nucleotide polymorphisms (SNPs) have been shown to be associated with several autoimmune diseases such as inflammatory bowel disease, psoriasis and ankylosing spondylitis. However, the association studies between multiple sclerosis (MS) and SNPs of IL12B or IL23R gene have been reported with inconsistent results in Caucasian population. These discrepancies prompted us to investigate whether IL12B and IL23R variants are associated with susceptibility to MS in Chinese southern population. In this study, we investigated four SNPs (rs2201841, rs10889677, rs7517847 in IL23R and rs3212227 in IL12B) in 178 MS patients and 221 health controls in southern China using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. There was no difference of genotype or allele distribution of these SNPs between MS patients and controls. No association was found between gene polymorphisms and clinical characteristics in MS patients. Furthermore, haplotypes analysis showed similar distribution of haplotype frequencies in MS patients and controls. Our study showed that the IL12B and IL23R gene SNPs does not seem to be associated with MS susceptibility in Chinese southern population.