[The analysis of association between multiple sclerosis and genetic markers identified in genome-wide association studies]. / Analiz assotsiatsii s rasseyannym sklerozom geneticheskikh markerov predraspolozhennosti, vyyavlennykh v rezul'tate polnogenomnykh issledovanii.

OBJECTIVE: Our aim was to analyse the association with multiple sclerosis of the genetic markers of autoimmune disorders identified in genome-wide association studies in ethnically homogenous groups of Russians and Tatars residing in the Republic of Bashkortostan. MATERIAL AND METHODS: We performed genotyping of the genetic variants rs2069762 in IL2 gene, rs759648 in PVT1 gene, rs1800682 in FAS gene and rs12708716 in CLEC16A gene in the study group consisting of 1724 people (547 patients with multiple sclerosis, 1177 representatives of the control group). We analysed the association of the studied genetic markers with multiple sclerosis using logistic regression under additive genetic model implemented in PLINK program with sex a covariate. RESULTS: In the group of Tatars, we detected an association of PVT1 rs759648*Callele with multiple sclerosis (OR=1.42, p=0,023). Meta-analysis of the study results in the two ethnic groups we confirmed the association of the PVT1 rs759648*C allele with the disease (random effects model and fixed effect model: OR=1.29, p=0,018). CONCLUSION: Our results provide an evidence of an association between multiple sclerosis and the PVT1 rs759648 allele in the populations of Russian and Tatars from the Republic of Bashkortostan. No association with any other studied polymorphic variant was found in the two ethnic groups.

[A case-report of Balo concentric sclerosis transformed into definite multiple sclerosis]. / Klinicheskii sluchai kontsentricheskogo skleroza Balo, transformirovavshegosia v dostovernyi rasseiannyi skleroz.

The authors present the results of an 8-year retrospective-prospective follow-up of a patient with Balo concentric sclerosis. The disease meets the diagnostic criteria of remitting-relapsing multiple sclerosis.

[Clinical and molecular genetic analysis of a case of familial multiple sclerosis in the Republic of Bashkortostan]. / Klinicheskii i molekuliarno-geneticheskii analiz sluchaia semeinogo rasseiannogo skleroza v Respublike Bashkortostan.

AIM: To investigate clinical manifestations of multiple sclerosis (MS) and the genetic makeup of six affected members of one family. MATERIAL AND METHODS: Six members of the family of Russian ethnic origin were examined. Pedigree analysis and genotyping of polymorphic markers of candidate genes for multiple sclerosis were performed. RESULTS AND CONCLUSION: The accumulation of alleles that were associated with autoimmune diseases according to the results of genome-wide association studies (rs1109670*C, rs3129934*T, rs9523762*G, rs1570538*T) was found in the family. The results confirm the contribution of several genetic variants to familial forms of MS.

[Cancer diseases in patients with multiple sclerosis in the Bashkortostan Republic]. / Onkologicheskaia patologiia u bol'nykh rasseiannym sklerozom v Respublike Bashkortostan.

A database on patients with multiple sclerosis (MS) of the Republican center of multiple sclerosis (Ufa city) is analyzed. The database includes 1436 patients. For the period 2005-2012, 4 female patients with cancer, including 2 patients with thyroid gland cancer, 1 patient with rectum tumor and 1 patient with breast cancer, were identified. Clinical features of MS in these cases were studied. In two patients, cancer developed during the treatment with Β-interferon-1b. A possible association of cancer with MS and multiple sclerosis disease modifying drugs is discussed.