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MYO9B polymorphisms in multiple sclerosis.

ABSTRACT: Single-nucleotide polymorphisms (SNPs) in the 3' region of myosin IXB (MYO9B) gene have recently been reported to associate with different inflammatory or autoimmune diseases. We monitored for the association of MYO9B variants to multiple sclerosis (MS) in four Northern European populations. First, 18 SNPs including 6 SNPs with previous evidence for association to immune disorders, were tested in 730 Finnish MS families, but no linkage or family-based association was observed. To ensure the power to detect variants with a modest effect size, we further analyzed 10 variants in 899 Finnish cases and 1325 controls, and in a total of 1521 cases and 1476 controls from Denmark, Norway and Sweden, but found no association. Our results thereby do not support a major function of the tested MYO9B variants in MS.

SUBMITTER: Kemppinen A

PROVIDER: S-EPMC2685895 | biostudies-literature | 2009 Jun

REPOSITORIES: biostudies-literature

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MYO9B polymorphisms in multiple sclerosis.

Kemppinen Anu A Suvela Minna M Tienari Pentti J PJ Elovaara Irina I Koivisto Keijo K Pirttilä Tuula T Reunanen Mauri M Rautakorpi Ilkka I Hillert Jan J Lundmark Frida F Oturai Annette A Ryder Lars L Harbo Hanne F HF Celius Elisabeth G EG Palotie Aarno A Daly Mark M Peltonen Leena L Saarela Janna J

European journal of human genetics : EJHG 20090114 6

Single-nucleotide polymorphisms (SNPs) in the 3' region of myosin IXB (MYO9B) gene have recently been reported to associate with different inflammatory or autoimmune diseases. We monitored for the association of MYO9B variants to multiple sclerosis (MS) in four Northern European populations. First, 18 SNPs including 6 SNPs with previous evidence for association to immune disorders, were tested in 730 Finnish MS families, but no linkage or family-based association was observed. To ensure the powe ...[more]

PMID: 19142207

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MYO9B polymorphisms in patients with inflammatory bowel disease.

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Novel SNARE Complex Polymorphisms Associated with Multiple Sclerosis: Signs of Synaptopathy in Multiple Sclerosis

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Association between single nucleotide polymorphisms rs12722489 and multiple sclerosis in Iranian patients with multiple sclerosis

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Association between the MYO9B polymorphisms and celiac disease risk: a meta-analysis.

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| S-EPMC4658862 | biostudies-literature

MYO9B gene polymorphisms are associated with the risk of inflammatory bowel diseases.

Project description:Myosin IXB (MYO9B) gene polymorphisms have been extensively investigated in terms of their associations with inflammatory bowel disease (IBD), with contradictory results. The aim of this meta-analysis was to evaluate associations between MY09B gene polymorphisms and the risk of IBD, Crohn's disease (CD) and ulcerative colitis (UC). Eligible studies from PubMed, Embase, and CNKI databases were identified. Pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated. Ten studies published in eight papers reporting 8,975 cases and 9,482 controls were included in this meta-analysis. Five MY09B gene polymorphisms were evaluated: rs1545620, rs962917, rs1457092, rs2305764, and rs2305767. Our data suggested that the rs1545620 polymorphism was associated with a decreased risk of IBD. A similar result was found for rs2305767 and UC. The rs962917 single nucleotide polymorphism (SNP) increased the risk of IBD, CD and UC. Moreover, rs1457092 increased the risk of IBD and UC. Rs2305764 was also associated with an increased risk of IBD. Furthermore, stratification analyses indicated that rs1545620 decreased the risk of IBD, while rs962917 increased the risk of IBD, CD and UC in Caucasian populations. To sum up, our data indicate that these five SNPs in MY09B are significantly associated with the risk of IBD.

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Association of MYO9B gene polymorphisms with inflammatory bowel disease in Chinese Han population.

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FOXP3 and GATA3 Polymorphisms, Vitamin D3 and Multiple Sclerosis.

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Multiple Sclerosis

Project description:Elevated genetic risk for multiple sclerosis originated in Steppe Pastoralist populations

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Role of Multiple Vitamin D-Related Polymorphisms in Multiple Sclerosis Severity: Preliminary Findings.

Project description:BackgroundMultiple Sclerosis (MS) is a multifactorial disease whose pathogenesis is the result of interaction among genetic, epigenetic, and environmental factors. Among these, a role for vitamin D hypovitaminosis has emerged in recent decades. Vitamin D levels are influenced by both environmental and genetic factors. Single nucleotide polymorphisms (SNPs) in genes codifying for molecules involved in vitamin D metabolism have been associated with an increased risk of developing MS. However, few studies assessed the association of such SNPs with the severity of the disease. The aim of this observational study was to evaluate the potential association among vitamin D status, MS severity, and vitamin D-related SNPs, alone or in combination.MethodsIn a cohort of 100 MS patients, we genotyped 18 SNPs in the following genes: NAD synthetase 1, CYP2R1, vitamin D binding protein, vitamin D receptor, Retinoid X Receptor-α, KLOTHO, CYP24A1, and CYP27A1. Serum 25(OH)D3 levels were measured by high-performance liquid chromatography. Genotyping was performed by real-time polymerase chain reaction or PCR-RFLP.ResultsWe did not find any association between SNPs, alone or in combination, and MS severity.ConclusionIn this study, we make an initial evaluation of the possible influence of several SNPs in vitamin D-related genes on MS severity.

| S-EPMC9394239 | biostudies-literature

IL-7R α polymorphisms in 60 Iranian multiple sclerosis patients.

Project description:BackgroundMultiple sclerosis (MS), a chronic inflammatory demyelinating disorder with neurodegenerative aspects, is more common among young adults, particularly women.MethodsThis molecular study was designed to investigate the IL-7R α chain gene in Iranian MS patients. We studied 60 MS patients, diagnosed based on 2005 R-McDonald criteria and 60 apparently healthy individuals as the control group. DNA was extracted from whole blood cells using MBST/IRAN Extraction kit and all samples were screened for possible sequence variation in three regions including promoter, exon 2 and exon 4 with single strand conformation polymorphism (SSCP).ResultsThe alterations were confirmed with direct sequencing by ABI 3730XL. Although no mutation was detected in the studied regions, eight single nucleotide polymorphisms (SNPs) consisting of rs71617734 in promoter; rs35967524, rs11567704, rs1494558, rs11567705 and rs969128 in exon 2 as well as rs1494555 and rs2228141 in exon 4 were observed. The rs1494558 in exon 2 and rs1494555 in exon 4 were missense variations. Our results also showed the substitution of isoleucine with threonine in rs1494558 (P.I66T) with this accession number, FR863587 submitted in EMBL bank. The study of exon4 areas revealed two SNPs and two sequence variations, where [p.V138I] Valine substituted with isoleucine (FR863588), as well as a silent nucleotide substitution [P. H165H] in the absence of amino acid alteration. The analysis of the SNP genotype in the controls and the patients, using χ(2) showed no significant association with multiple sclerosis in this group.ConclusionOur study demonstrated the effects of some SNPs on the IL-7R α protein in MS. Further studies are required to reveal the effects of these SNPs on the IL-7R α protein in multiple sclerosis.

| S-EPMC3829237 | biostudies-literature

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