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Makarycheva OY, Tsareva EY, Sudomoina MA, et al. Family Analysis of Linkage and Association of HLA-DRB1, CTLA4, TGFB1, IL4, CCR5, RANTES, MMP9 and TIMP1 Gene Polymorphisms with Multiple Sclerosis. Acta Naturae. 2011;3(1):85-92
Makarycheva, O. Y., Tsareva, E. Y., Sudomoina, M. A., Kulakova, O. G., Titov, B. V., Bykova, O. V., Gol'tsova, N. V., Kuzenkova, L. M., Boiko, A. N., & Favorova, O. O. (2011). Family Analysis of Linkage and Association of HLA-DRB1, CTLA4, TGFB1, IL4, CCR5, RANTES, MMP9 and TIMP1 Gene Polymorphisms with Multiple Sclerosis. Acta naturae, 3(1), 85-92.
Makarycheva, O Yu, et al. "Family Analysis of Linkage and Association of HLA-DRB1, CTLA4, TGFB1, IL4, CCR5, RANTES, MMP9 and TIMP1 Gene Polymorphisms with Multiple Sclerosis." Acta naturae vol. 3,1 (2011): 85-92.
Makarycheva OY, Tsareva EY, Sudomoina MA, Kulakova OG, Titov BV, Bykova OV, Gol'tsova NV, Kuzenkova LM, Boiko AN, Favorova OO. Family Analysis of Linkage and Association of HLA-DRB1, CTLA4, TGFB1, IL4, CCR5, RANTES, MMP9 and TIMP1 Gene Polymorphisms with Multiple Sclerosis. Acta Naturae. 2011 Jan;3(1):85-92. PMID: 22649676; PMCID: PMC3347600.
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Acta Naturae. 2011 Jan;3(1):85-92.

Family Analysis of Linkage and Association of HLA-DRB1, CTLA4, TGFB1, IL4, CCR5, RANTES, MMP9 and TIMP1 Gene Polymorphisms with Multiple Sclerosis.

Acta naturae

O Yu Makarycheva, E Yu Tsareva, M A Sudomoina, O G Kulakova, B V Titov, O V Bykova, N V Gol'tsova, L M Kuzenkova, A N Boiko, O O Favorova

Affiliations

  1. Russian Cardiology Scientific and Production Center.

PMID: 22649676 PMCID: PMC3347600

Abstract

Multiple sclerosis (MS) is a chronic inflammatory autoimmune disease of the central nervous system (CNS). Proteins of the immune system, as well as proteins that are involved in the infiltration of activated immune cells in the CNS, play an important role in the pathogenesis of MS. We investigated the association and linkage with MS of the following immune-system genes polymorphisms: HLA-DRB1,CTLA4,TGFB1,IL4,CCR5 andRANTES, as well as of the matrix metalloproteinase 9 (MMP9) and tissue inhibitor of metalloproteinase  1 (TIMP1) genes polymorphisms. For this purpose we used the transmission disequilibrium test (TDT). The group investigated was comprised of 100 nuclear families of Russian ethnicity, each consisting of an affected offspring and his nonaffected parents. It was found that HLA-DRB1*15alleleandMMP9*-1562C allele were transmitted from healthy heterozygous parents to affected children more frequently than alternative alleles (p  =  0.02 andp  =  0.04, respectively). Another family-based method, AFBAC (affected family-based control), showed MS association with HLA-DRB1*15, but not with theMMP9*-1562C allele.

Keywords: HLA-DRB1 gene; functional genomics; AFBAC ; CCR5 gene ; CTLA4 gene ; IL4gene; MMP9gene ; RANTESgene ; TDT; TGFB1gene; TIMP1gene; allelic polymorphism; genotyping; human; multiple sclerosis

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