Association of Val660Leu, progesterone receptor polymorphic variant, with susceptibility to RRMS disease

Multiple sclerosis is an inflammatory, autoimmune, and progressive neurodegenerative disease of the central nervous system with an unknown etiology. Based on the gender differences in epidemiological, clinical, and pathological features of multiple sclerosis, the role of sex hormones and their receptors in this disease has been considered. A single nucleotide polymorphism located in the exon 4 of progesterone receptor, rs1042838 (G/T -Val660Leu), was associated with reduced progesterone receptor activity. We aimed to investigate the association of this polymorphism with the risk of multiple sclerosis.

A total of 426 individuals were included in the present study, including 200 patients and 226 age and sex adjusted healthy controls in Iranian population. The target SNP was genotyped using PCR-RFLP, and statistical analysis was performed using SPSS 21.0 and by ꭓ2 and logistic regression tests.

The results showed that the allele T acts as a risk allele, so that the genotypes TG and TT significantly increase RRMS susceptibility compared to the genotype GG.

Our data suggest that Val660Leu polymorphism might be a risk factor for the development of RRMS.