ApaI, BsmI and TaqI<i>VDR</i>gene polymorphisms in association with multiple sclerosis in Slovaks

Čierný, Daniel; Michalík, Jozef; Škereňová, Mária; Kantorová, Ema; Sivák, Štefan; Javor, Juraj; Kurča, Egon; Dobrota, Dušan; Lehotský, Ján

doi:10.1080/01616412.2016.1200287

Cited by 29 publications

(24 citation statements)

References 35 publications

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“…In contrast, the C allele of TaqI appeared to predispose for MS. However, these findings have not been confirmed by other Caucasian Spanish (18), southern Spanish (33), Greek (32), Canadian (28), Slovak (30), and Dutch (34) studies. They all show no differences in allelic variant frequencies between MS patients and healthy controls.…”

Section: Taqimentioning

confidence: 66%

Role of gene polymorphisms in vitamin D metabolism and in multiple sclerosis

Karahalıl

2018

Archives of Industrial Hygiene and Toxicology

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Multiple sclerosis (MS) is a complex inflammatory disease of the central nervous system (CNS) resulting in neurological impairment and disability. There is evidence that adequate vitamin D levels may lower the risk of MS development. The aetiology of MS is complex and involves both genetic and environmental factors. In fact, not one but several genes are believed to lead to the disease. As for environmental factors, one of the most important risk factors is vitamin D deficiency, which, in turn, is closely related to gene polymorphisms that play a role in vitamin D metabolism and regulation. However, information about these gene polymorphisms is quite contradictory. The aim of this review is to discuss the association between some of the vitamin D-related gene variants and MS.

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Section: Taqimentioning

confidence: 66%

Role of gene polymorphisms in vitamin D metabolism and in multiple sclerosis

Karahalıl

2018

Archives of Industrial Hygiene and Toxicology

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“…Most of the published work agreed with part of our data and disagreed with others, keeping in mind these variations mainly correlated to the studied population. The study published by Cierny et al on Slovaks showed an association between BsmI and MS risk, yet no association between ApaI or TaqI and MS was detected [7]. Another study conducted by a Turkish group concluded an association between FokI and MS, yet no association was detected between TaqI or ApaI and MS risk [22].…”

Section: Discussionmentioning

confidence: 98%

“…In the perspective of substantial results from experimental work, reliable epidemiological information, and encouraging clinical findings, the theory that hypovitaminosis D as one of MS risk factors has quickly gained support and can, before long, be affirmed by more broad clinical studies. Vitamin D (VD) role in MS pathogenesis was highlighted in several studies that showed decreased level of active form of VD in initial and serious phases of MS [5][6][7][8]. Genetic variations in vitamin D receptor (VDR) gene as single nucleotide polymorphisms (SNPs) might alter VD-VDR pathway causing disturbance of VD immune-regulatory functions which consequently is reflected on MS risk [9][10][11][12].…”

Section: Introductionmentioning

confidence: 99%

“…Presence of FokI restriction enzyme site results in the variant "f" allele and translation of a 3 amino acid longer VDR protein, while the "F" allele, the wild type, produces shorter VDR protein and is associated with an increased transcriptional activity [13]. Other VDR SNPs are located in the 3′UTR and defined by the restriction enzymes as BsmI polymorphism (rs1544410) A/G in intron 8, ApaI polymorphism (rs7975232) G/T in intron 8, TaqI polymorphism (rs731236) T/C in exon 9, and Tru9I polymorphism (rs757343) G/A in intron 8 [6][7][8][14][15][16][17][18]. Considering each SNP site independently may not uncover critical impacts or clarify variations of numerous endeavors to associate VDR genotype with MS [7,[19][20][21][22].…”

Section: Introductionmentioning

confidence: 99%

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Protective association of VDR gene polymorphisms and haplotypes with multiple sclerosis patients in Egyptian population

Hassab

Deif

Elneely

et al. 2019

Egypt J Med Hum Genet

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Background: Hypovitaminosis D is one of the hazardous factors for multiple sclerosis (MS) and can be attested by expanding clinical studies. We aimed to study vitamin D receptor (VDR) gene polymorphisms: FokI, BsmI, ApaI, TaqI, and Tru9I genotype; frequency; haplotype structure; and linkage disequilibrium (LD) in MS Egyptian patients. The study was conducted on 50 MS patients and 50 healthy controls of matching age and sex. Alleles and genotype variants of VDR gene SNPs were analyzed by PCR using the restriction fragment length polymorphism (RFLP). Haplotype and linkage disequilibrium analysis based on the five genetic loci was studied on the detected genotypes. Results: Frequency of FokI genotype (Ff+ff) was significantly higher in healthy controls (50%) compared to MS (28%) (P = 0.03), and "f" allele was significantly associated with the control group (OR = 0.42, CI = 0.26-0.85, P = 0.015). Frequency of ApaI genotype (Aa+aa) was significantly higher in MS (60%) (P = 0.002), and "a" allele was significantly associated with MS cases (OR = 2.47, CI = 1.25-4.88, P = 0.008). TaqI allelic distribution showed significant association of "t" allele with control group (OR = 0.55, CI = 0.31-0.98, P = 0.04). Statistically significant LD was detected between BsmI and ApaI in controls and MS (D' = 0.89 and P < 0.001, and D' = 0.52 and P < 0.001), respectively. Odd ratios of "fAt" and "BAt" were 0.2 (95% CI = 0.06-0.66) and 0.43 (95% CI = 0.19-0.97), respectively, suggesting that MS risk was 5 times and 2.3 times lesser, respectively, for haplotype carriers compared to non-carriers. Conclusion: The study findings suggest that VDR gene variants "f," "A," and "t" alleles as well as VDR gene haplotypes "BAt" and "fAt" may have a protective effect against MS disease in Egyptian population.

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“…The FokI (rs2228570) and TaqI (rs731236) variants, on the other hand, can be detected with this technique. The findings published in the literature are conflicting, and these variants have been related with both risk and progression of MS (Altemaimi, Alenezi, Alserri, Alroughani, & Al‐Mulla, ; Čierny et al, ; Fukazawa et al, ); other studies observe no association, however. Meta‐analyses have not solved this controversy, finding both negative (García Martín et al, ; Huang & Xie, ) and positive results (Tizaoui, Kaabachi, Hamzaoui, & Hamzaoui, ), although they do suggest that ethnicity, age, and geographic latitude may influence the associations between these variants and MS risk.…”

Section: Discussionmentioning

confidence: 99%

Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole‐exome next generation sequencing

et al. 2019

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Introduction Vitamin D (VD) deficiency has been associated with multiple sclerosis (MS) and other autoimmune diseases (AIDs). However, the effect of the genetics of VD on the risk of MS is subject to debate. This study focuses on genes linked to the VD signaling pathway in families with MS. The evaluation of gene variants in all the members of families could contribute to an additional knowledge on the information obtained from case‐control studies that use nonrelated healthy people. Material and Methods We studied 94 individuals from 15 families including at least two patients with MS. We performed whole‐exome next generation sequencing on all individuals and analyzed variants of the DHCR7, CYP2R1, CYP3A4, CYP27A1, GC, CYP27B1, LRP2, CUBN, DAB2, FCGR, RXR, VDR, CYP24A1, and PDIA3 genes. We also studied PTH, FGF23, METTL1, METTL21B, and the role of the linkage disequilibrium block on the long arm of chromosome 12, through analysis of the CDK4, TSFM, AGAP2, and AVIL genes. We compared patients with MS, other AIDs and unaffected members from different family types. Results The study described the variants in the VD signaling pathway that appear in families with at least two patients with MS. Some infrequent variants were detected in these families, but no significant difference was observed between patients with MS and/or other AIDs and unaffected family members in the frequency of these variants. Variants previously associated with MS in the literature were not observed in these families or were distributed similarly in patients and unaffected family members. Conclusion The study of genes involved in the VD signaling pathway in families that include more than one patient with MS did not identify any variants that could explain the presence of the disease, suggesting that VD metabolism could probably play a role in MS more as an environmental factor rather than as a genetic factor. Our study also supports the analysis of cases and unaffected individuals within families in order to determine the influence of genetic factors.

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ApaI, BsmI and TaqIVDRgene polymorphisms in association with multiple sclerosis in Slovaks

Cited by 29 publications

References 35 publications

Role of gene polymorphisms in vitamin D metabolism and in multiple sclerosis

Role of gene polymorphisms in vitamin D metabolism and in multiple sclerosis

Protective association of VDR gene polymorphisms and haplotypes with multiple sclerosis patients in Egyptian population

Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole‐exome next generation sequencing

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