Study of association between polymorphisms in the PSMB5 (rs11543947) and PSMA3 (rs2348071) genes and multiple sclerosis in Latvians

• Дата: 2014
• Автори: Kalnina, J., Paramonova, N., Sjakste, N., Sjakste, T.
• Формат: Стаття
• Мова: English
• Опубліковано: Інститут молекулярної біології і генетики НАН України 2014
• Назва видання: Вiopolymers and Cell
• Теми: Biomedicine
• Онлайн доступ: https://nasplib.isofts.kiev.ua/handle/123456789/154430
• Назва журналу: Digital Library of Periodicals of National Academy of Sciences of Ukraine
• Цитувати: Study of association between polymorphisms in the PSMB5 (rs11543947) and PSMA3 (rs2348071) genes and multiple sclerosis in Latvians / J. Kalnina, N. Paramonova, N. Sjakste, T. Sjakste // Вiopolymers and Cell. — 2014. — Т. 30, № 4. — С. 305-309. — Бібліогр.: 31 назв. — англ.

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.