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Korobko D.S.

Oblastnoĭ tsentr rasseiannogo skleroza, Gosudarstvennaia novosibirskaia oblastnaia klinicheskaia bol'nitsa

Malkova N.A.

Novosibirskiĭ okruzhnoĭ tsentr rasseiannogo skleroza

Bulatova E.V.

Oblastnoĭ tsentr rasseiannogo skleroza i drugikh autoimmunnykh zabolevaniĭ nervnoĭ sistemy, Gosudarstvennaia novosibirskaia oblastnaia klinicheskaia bol'nitsa

Babenko L.A.

Oblastnoĭ tsentr rasseiannogo skleroza i drugikh autoimmunnykh zabolevaniĭ nervnoĭ sistemy, Gosudarstvennaia novosibirskaia oblastnaia klinicheskaia bol'nitsa;
Kabinet klinicheskikh issledovaniĭ rasseiannogo skleroza, Sibirskiĭ okruzhnoĭ meditsinskiĭ tsentr FMBA Rossii

Sazonov D.V.

FGBU "Federal'nyĭ nauchno-klinicheskiĭ tsentr spetsializirovannykh vidov meditsinskoĭ pomoshchi i meditsinskikh tekhnologiĭ FMBA Rossii", Moskva

Sokolova E.A.

Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia;
Novosibirsk State University, Novosibirsk, Russia

Filipenko M.L.

Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia;
Novosibirsk State University, Novosibirsk, Russia

The effect of genetic factors on the phenotypic expression of multiple sclerosis

Authors:

Korobko D.S., Malkova N.A., Bulatova E.V., Babenko L.A., Sazonov D.V., Sokolova E.A., Filipenko M.L.

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Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2013;113(2‑2): 10‑16

Read: 1793 times

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To cite this article:

Korobko DS, Malkova NA, Bulatova EV, Babenko LA, Sazonov DV, Sokolova EA, Filipenko ML. The effect of genetic factors on the phenotypic expression of multiple sclerosis. S.S. Korsakov Journal of Neurology and Psychiatry. 2013;113(2‑2):10‑16. (In Russ.)

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова. Спецвыпуски (S.S. Korsakov Journal of Neurology and Psychiatry (special issues))
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Abstract:

A total of 326 patients with multiple sclerosis (MS) according to the McDonald criteria (2005) were recruited to the study. Single nucleotide polymorphisms in the CD40 gene (rs6074022, rs1883832, rs1535045 and rs11086998) and the KIF1B gene (rs10492972 and rs3135388) were genotyped using TaqMan technology. We found a significant association of rs1883832 (risk allele T, OR=1.74, 95% CI 1.34-2.32, p=2.96·10-7) and rs3135388 (risk allele T, OR=3.23, 95% CI 2.43-4.29, p=3.8·10-17) with the risk of MS in the Novosibirsk region population. The study demonstrated a significant effect of genetic factors on phenotypic expression of MS: an C allele of rs6074022 polymorphism (CD40) was associated with a higher rate of MS progression, and the TT genotype of rs1535045 was associated with a slower progression of MS and early MS onset. A more benign course and a higher frequency of an T allele of rs3135388 (44% vs 33%, p=0.003) was found in familial cases compared to sporadic cases. The further specific research is needed for understanding the genetic basis of susceptibility to MS.

Keywords:

multiple sclerosis
risk factors
gene CD40
KIF1B
rs3135388
progression index
MSSS

Authors:

Korobko D.S.

Oblastnoĭ tsentr rasseiannogo skleroza, Gosudarstvennaia novosibirskaia oblastnaia klinicheskaia bol'nitsa

Malkova N.A.

Novosibirskiĭ okruzhnoĭ tsentr rasseiannogo skleroza

Bulatova E.V.

Oblastnoĭ tsentr rasseiannogo skleroza i drugikh autoimmunnykh zabolevaniĭ nervnoĭ sistemy, Gosudarstvennaia novosibirskaia oblastnaia klinicheskaia bol'nitsa

Babenko L.A.

Oblastnoĭ tsentr rasseiannogo skleroza i drugikh autoimmunnykh zabolevaniĭ nervnoĭ sistemy, Gosudarstvennaia novosibirskaia oblastnaia klinicheskaia bol'nitsa;
Kabinet klinicheskikh issledovaniĭ rasseiannogo skleroza, Sibirskiĭ okruzhnoĭ meditsinskiĭ tsentr FMBA Rossii

Sazonov D.V.

FGBU "Federal'nyĭ nauchno-klinicheskiĭ tsentr spetsializirovannykh vidov meditsinskoĭ pomoshchi i meditsinskikh tekhnologiĭ FMBA Rossii", Moskva

Sokolova E.A.

Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia;
Novosibirsk State University, Novosibirsk, Russia

Filipenko M.L.

Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia;
Novosibirsk State University, Novosibirsk, Russia

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