Biopolym. Cell. 2014; 30(4):305-309.
Biomedicine
Study of association between polymorphisms in the PSMB5 (rs11543947) and PSMA3 (rs2348071) genes and multiple sclerosis in Latvians
1Kalnina J., 1Paramonova N., 2Sjakste N., 1Sjakste T.
  1. Genomics and Bioinformatics, Institute of Biology
    University of Latvia
    3, Miera Str., Salaspils, Latvia, LV-2169
  2. Latvian Institute of Organic Synthesis
    21, Aizkraukles Str., Riga, Latvia, LV-1006

Abstract

Functional realization of many signalling proteins and transcription factors implicated in the development and progression of multiple sclerosis is mediated by proteasomes. Aim of this case-control study was to evaluate genetic variations in the PSMB5 and PSMA3 genes encoding proteasomal subunits on the susceptibility to multiple sclerosis in Latvians. Methods. The rs11543947 (PSMB5) and rs2348071 (PSMA3) loci were genotyped in 291 multiple sclerosis patients and 305 healthy individuals and analysed general, subtype and sex-specific associations with the disease. Results. Loci rs11543947 and rs2348071 were identified as disease neutral and susceptible respectively. The rs2348071 heterozygous genotype GA showed strong main effect (P < 0.001; OR = 1.891, 95 % CI [1.360–2.628]), and moderate (P < 0.01; OR = 1.663, 95 % CI [1.152– 2.402]) and strong (P < 0.001; OR = 2.459, 95 % CI [1.534–3.943]) association with relapsing-remitting and secondary progressive phases of disease respectively. No genotype-sex interaction associated with multiple sclerosis has been detected. Conclusions. Our results suggest susceptibility of the rs2348071 heterozygous genotype to multiple sclerosis in Latvians.
Keywords: chromosome 14q, proteasomal genes, SNPs, PSMB5, PSMA3, multiple sclerosis

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