Prevalence of alleles of polymorphic variants Leu33Pro and Leu66Arg gene ITGB3 among inhabitants of Siberia

• Published in: Russian journal of genetics 2013-08, Vol.49 (8), p.877-880
• Main Authors: Goncharova, I. A., Babushkina, N. P., Minaycheva, L. I., Markova, V. V., Kulish, E. V., Salakhov, R. R., Makeeva, O. A., Puzyrev, V. P.
• Format: Article
• Language: English
• Subjects: Animal Genetics and Genomics; Biomedical and Life Sciences; Biomedicine; Human Genetics; Microbial Genetics and Genomics; Short Communications
• ISSN: 1022-7954; 1608-3369
• DOI: 10.1134/S1022795413070053

The frequency of the polymorphic variant T196C (Leu33Pro, rs5918) of ITGB3 gene was studied in several groups of inhabitants of Siberia, including women with reproductive disorders ( n = 186), patients with acute coronary syndrome ( n = 330), and population control ( n = 858). The frequency of the rare PLA2 allele among residents of Tomsk and Kemerovo was 14.7% and 15.0% respectively. There were no differences in the allele and genotype frequencies of polymorphic variant between patients with acute coronary syndrome and the control group ( p = 0.925, p = 0.622). The highest frequency of abnormal PLA2 allele (22.1%) and the PLA2 / PLA2 genotype (8.8%) was observed among women who had miscarried, which was significantly different from the frequency of this allele and genotype in the control group (14.7%, p = 0.017; 2.1%, p = 0.0009). Sequencing showed that all samples with the nonspecific band had the polymorphic rs5918 variant and rs36080296 mutations (T216G, Leu66Arg). The frequency of the rs36080296 mutation among the residents of Siberia was 0.51%. Among the women with reproductive disorders, the frequency of rs36080296 was 2.7%, while in the group who suffered from miscarriages, it was 4.4%; this was different from the frequency in the control group (0.08%, p = 0.2 × 10 −6 ). The accumulation of mutations was also observed among men with acute coronary syndrome (0.6%), but the differences from the control group (0%) had no statistical significance. Thus, the rs36080296 mutation may be a factor in predisposition to miscarriage, especially in combination with the PLAII allele. In addition, the rs36080296 variant among men may be associated with acute cor onary syndrome, which requires further study.