Myelin basic protein gene is associated with MS in DR4- and DR5-positive Italians and Russians

Guerini, Franca Rosa; Ferrante, Pasquale; Losciale, L.; Caputo, Domenico; Lombardi, Maria Luisa; Pirozzi, Giuseppe; Luongo, V.; Судомоина, М. А.; Andreewski, T. V.; Alekseenkov, A. D.; Бойко, А. Н.; Гусев, Е. И.; Фаворова, О. О.

doi:10.1212/01.wnl.0000079372.54703.a8

Cited by 20 publications

(14 citation statements)

References 28 publications

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“…Several studies were focused on possible interactions of HLA-DRB1 alleles and non-HLA genes or between non-HLA genes. For example, associations of CCR5 Δ32 (Favorova et al 2002) and of VNTR polymorphism in MBP (Guerini et al 2003) were found only in DR-stratified individuals. This strategy of searching for combinations resulted in creation of the APSampler algorithm (Favorov et al 2005) that was successfully applied for MS cohorts and allowed finding the two three-allelic combinations associated with MS, both including HLA-DRB1 alleles (Favorova et al 2006).…”

Section: Introductionmentioning

confidence: 98%

A review of genome-wide association studies for multiple sclerosis: classical and hypothesis-driven approaches

et al. 2015

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Multiple sclerosis (MS) is a common complex neurodegenerative disease of the central nervous system. It develops with autoimmune inflammation and demyelination. Genome-wide association studies (GWASs) serve as a powerful tool for investigating the genetic architecture of MS and are generally used to identify the genetic factors of disease susceptibility, clinical phenotypes, and treatment response. This review considers the main achievements and challenges of using GWAS to identify the genes involved in MS. It also describes hypothesis-driven studies with extensive genome coverage of the selected regions, complementary to GWASs. To date, over 100 MS risk loci have been identified by the combination of both approaches; 40 of them were found in at least two GWASs and meet genome-wide significance threshold (p ≤ 5 × 10(-8)) in at least one GWAS, whereas the threshold for the rest of GWASs was set in our review at p < 1 × 10(-5). Yet, MS risk loci identified to date explain only a part of the total heritability, and the reasons of "missing heritability" are discussed. The functions of MS-associated genes are described briefly; the majority of them encode immune-response proteins involved in the main stages of MS pathogenesis.

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Section: Introductionmentioning

confidence: 98%

A review of genome-wide association studies for multiple sclerosis: classical and hypothesis-driven approaches

et al. 2015

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“…The genotype and allele frequency in the acute CO poisoning control group were significantly different from the Italian population (0.364, 0.461, 0.175; 0.594, 0.406, respectively) and the Russian population (0.405, 0.421, 0.174; 0.615, 0.385, respectively) (Guerini et al, 2003). This indicated that the distribution of MBP gene polymorphisms was population-specific.…”

Section: Discussionmentioning

confidence: 74%

“…MBP polymorphism analysis was conducted according to the methods of Guerini et al (2003), with MBP1 5ꞌ-ATATGTGGATGGATGGATGACGAAT-3ꞌ designated as the upstream primer and MBP2 5ꞌ-CAGGATTCACTCACATATTCCTG-3ꞌ as the downstream primer (synthesized by TaKaRa Biotechnology Co., Ltd.) for 5ꞌ-side TGGA n at the first exon region. The sizes of the amplified fragments were 420 and 380 bp, respectively.…”

Section: Genotypingmentioning

confidence: 99%

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Association of the genes for tumor necrosis factor-α and myelin basic protein with delayed encephalopathy after acute carbon monoxide poisoning

Li²,

Wang³

et al. 2012

Genet. Mol. Res.

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ABSTRACT. There is structural damage to myelin and secondary immune injury in the development of delayed encephalopathy after acute carbon monoxide (CO) poisoning (DEACMP). In order to assess the role of genetic factors in this mechanism, we studied the association between tumor necrosis factor-α308 (TNF-α308) and myelin basic protein (MBP) 5ꞌ-side tetranucleotide repetitive sequence (TGGA) n gene polymorphism and DEACMP. We selected 109 DEACMP patients from the Han population in the Northern Henan Province as the case group, and 115 patients without delayed encephalopathy (called the acute CO poisoning group or the control group). There were no significant differences in TNF-α308 and MBP 5ꞌ-side TGGA n genotype distribution and allele frequency between the DEACMP group and the acute CO poisoning group (all P > 0.05). When the population was stratified by gender, only the MBP 5ꞌ-side TGGA n allele frequency was significantly different, and the frequency of allele L in the DEACMP group was significantly higher than that of the acute CO poisoning group in males (χ 2 = 4.089, P = 0.043, odds ratio = 2.103, 95% confidence interval = 1.014-4.363). The results showed that there was association between MBP 5ꞌ-side TGGA n gene polymorphism and DEACMP, and that allele L could increase the risk of occurrence in male patients with DEACMP. DEACMP may be the result of interaction of environmental and genetic factors.

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“…At present, we cannot resolve this issue. However, certain previous association 32 and linkage signals 27,33,34 have been obtained only in the HLA-DRX MS group, indicating that this HLA dichotomy may be either biologically or genealogically sound.…”

Section: Multiple Sclerosis and 2q33mentioning

confidence: 97%

A two-stage study on multiple sclerosis susceptibility and chromosome 2q33

et al. 2004

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We have performed a two-stage study to analyse the association of polymorphism on chromosome 2q33 with multiple sclerosis (MS). In all, 17 markers were analysed in stage-1 in 134 Finnish MS families and the observed associations were tested in stage-2 in 186 MS families. We did not find previously reported allelic or haplotype associations with CTLA4. We obtained a weak signal of two distinct predisposing genes, one proximal the other distal of CTLA4. The putative proximal gene was associated with the marker rs3977 in families lacking HLA-DR2 (P ¼ 0.02 and 0.02) and the other distal gene was associated with D2S1271 in families from a high-risk region in western Finland (P ¼ 0.02 and 0.01). Based on the 43 cM distance and the lack of linkage disequilibrium between these loci, we conclude that the two association signals are independent. Our results provide preliminary evidence for two distinct MS susceptibility genes on 2q33 outside of CTLA4.

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Myelin basic protein gene is associated with MS in DR4- and DR5-positive Italians and Russians

Abstract: Polymorphism of the MBP or another gene in its vicinity appears to contribute to the etiology of MS for the subgroups of DR4- and DR5-positive Italians and Russians.

Cited by 20 publications

References 28 publications

A review of genome-wide association studies for multiple sclerosis: classical and hypothesis-driven approaches

A review of genome-wide association studies for multiple sclerosis: classical and hypothesis-driven approaches

Association of the genes for tumor necrosis factor-α and myelin basic protein with delayed encephalopathy after acute carbon monoxide poisoning

A two-stage study on multiple sclerosis susceptibility and chromosome 2q33

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