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Nucleotide sequences of exon 51, adjacent intron areas, and regulatory region of the α1 chain of type I collagen ( COL1A1) gene were analyzed in 41 patients with osteogenesis imperfecta (OI) from 33 families and their 68 relatives residing at Bashkortostan Republic (BR). Six mutations (four nonsense mutations c.967G>T (p.Gly323X), c.1081C>T (p.Arg361X), c.1243C>T (p.Arg415X), and c.2869C>T (p.Gln957X)) in patients of the Russian origin and two frameshift mutations (c.579delT (p.Gly194ValfsX71), and c.2444delG (p.Gly815AlafsX293)) in patients with OI of Tatar ethnicity as well as 14 single nucleotide polymorphisms in the COL1A1 gene were revealed. Mutations c.967G>T (p.Gly323X) and three alterations in the nucleotide sequence c.544-24C>T, c.643-36delT, and c.957 + 10insA were described for the first time. [ABSTRACT FROM AUTHOR]

Peptic ulcer disease (PUD) is a chronic disease based on recurrent gastric or duodenal ulcers. Association analysis of common polymorphisms of the cytokines genes IL1B ( rs1143634), IL1RN ( rs71941886), IL8 ( rs4073), IL10 ( rs1800872), and TNFA ( rs1800629) was conducted in 254 patients with gastric ulcer or duodenal ulcer and in 277 unrelated healthy individuals from the Bashkortostan Republic. Associations of the rs1143634*C allele and the C/ C genotype of the IL1B gene with PUD in ethnic Bashkirs have been revealed. The frequency of the rs4073*A/ A genotype of the IL8 gene was significantly higher in the control group as compared to patients infected with H. pylori. Our results confirm the significant role of rs1143634 of the IL1B gene in PUD development. [ABSTRACT FROM AUTHOR]

Study of DBP gene (TAAA) polymorphism in women of postmenopausal age revealed a significantly lower incidence of DBP 10 allele and a higher incidence of DBP 11 allele in Russian women with bone fractures in comparison with the relevant controls (χ = 4.47, p = 0.034 and χ = 4.28, p = 0.038, respectively). Allele DBP 11 is a high risk marker (OR = 1.93; 95%CI 1.06-3.48), while allele DBP10 a marker of low risk of bone fractures (OR = 0.59; 95%CI 0.37-0.94). A trend to a reduction of mineral density of the femoral neck and of the lumbar vertebrae in women with DBP 10 8 genotype of DBP gene polymorphic locus (TAAA) in comparison with DBP 10 10 and DBP 10 11 genotype carriers is traced. [ABSTRACT FROM AUTHOR]