The vitamin D receptor gene FokI polymorphism and Multiple Sclerosis in a Northern Portuguese population

Bettencourt, Andreia; Boleixa, Daniela; Guimarães, André Vicente; Leal, Bárbara; Carvalho, Cláudia; Brás, Susana; Samões, Raquel; Santos, Ernestina; Costa, Paulo; Silva, Ana Martins; Silva, Ana Martins da

doi:10.1016/j.jneuroim.2017.05.005

Cited by 21 publications

(12 citation statements)

References 30 publications

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“…Mamutse et al reported an association between ff genotype and less MS disability outcome in patients diagnosed with MS for over 10 years [15]. However, Bettencourt et al's study detected ff genotype more in MS patients with no difference in disease course or disability progression, even though they could not rule out FokI role in MS [19]. Simon et al showed no significant association between genotypes of FokI and MS disease [31].…”

Section: Discussionmentioning

confidence: 99%

“…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]. Hence, our aim was to study the genotype and frequency of VDR gene polymorphisms: FokI, BsmI, ApaI, TaqI, and Tru9I, in MS Egyptian patients.…”

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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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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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“…Overall 16 case-control studies with 3057 cases and 2852 controls were analyzed for assessment of FokI gene polymorphism and MS risk. Of 16 studies, 9 studies carried out in Europe continent [19,22,[32][33][34][35][36][37][38] 4 studies in Asia continent [16,17,39,40] One study in America continent [41] and finally 2 studies in Australia [15,42] (Table 1). No significant association was observed between FokI gene polymorphism and MS risk across all genetic models.…”

Section: Meta-analysis For Foki (Rs2228570) Polymorphism and Msmentioning

confidence: 99%

Association between Vitamin D receptor gene polymorphism and the risk of Multiple Sclerosis: Systematic review and meta-analysis

Imani¹,

Razi²,

Motallebnezhad³

et al. 2019

Preprint

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Background The association between the vitamin D receptor ( VDR ) gene polymorphism and the risk of Multiple sclerosis (MS) has been evaluated in several studiese. However, the findings were inconsistent and inconclusive.Methods All relevant studies reporting the association between the FokI (rs2228570) or/and TaqI (rs731236) or/and BsmI (rs1544410) or/and ApaI (rs7975232) polymorphisms of the VDR and susceptibility to multiple sclerosis published up to September 2019 were identified by comprehensive systematic database search in web of science, Scopus, and PubMed.Results A total of 30 case–control studies were included in this meta-analysis. The overall results suggested a significant association between TaqI gene polymorphism and MS risk under heterozygote contrast (OR = 1.27, 95%CI = 1.01–1.59, REM). Moreover, the pooled results of subgroup analysis decline presence of significant association under all defined genotype model. In subgroup analysis, BsmI gene polymorphism was associated with increased risk of MS under the recessive model in Asian population. In other hand, ApaI gene polymorphism was associated with decreased risk of MS under recessive and homozygote contrast (aa vs AA) models in Asian population.Conclusions This meta-analysis suggested a significant association between TaqI gene polymorphism and MS susceptibility. Furthermore, BsmI gene polymorphism was associated with an increased risk of MS in Asian population. In contrast, ApaI gene polymorphism was associated with a decreased risk of MS in Asian population. Future large scale studies on gene–environment and gene– gene interactions are required to estimate related risk factors and assist early diagnosis of patients at high risk for MS.

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“…Другое исследование, в котором изучалось влия-ние FokI полиморфизма гена VDR на развитие и про-грессирование рассеянного склероза, выявило у боль-ных статистически значимую более высокую частоту генотипа СС (15,6% против 10,1%; р=0,012), однако не было обнаружено разницы в частотах различных генотипов FokI полиморфизма в прогрессировании болезни [8]. Исследование TaqI полиморфизмов гена VDR у 120 взрослых пациентов показало статистически значимую положительную корреляцию между рассе-янным склерозом и Тt (ТС) генотипом (р<0,01) [9].…”

Section: обзоры литературыunclassified

“…Так, аллель С TaqI полиморфизма и аллель G BsmI полиморфизма гена VDR встречались достоверно чаще в группе больных. Напротив, ApaI полиморфизм гена VDR не был ассо-циирован с риском развития рассеянного склероза, однако генотип АА сочетался с более низким индек-сом прогрессирования заболевания [7].Другое исследование, в котором изучалось влия-ние FokI полиморфизма гена VDR на развитие и про-грессирование рассеянного склероза, выявило у боль-ных статистически значимую более высокую частоту генотипа СС (15,6% против 10,1%; р=0,012), однако не было обнаружено разницы в частотах различных генотипов FokI полиморфизма в прогрессировании болезни [8]. Исследование TaqI полиморфизмов гена VDR у 120 взрослых пациентов показало статистически значимую положительную корреляцию между рассе-янным склерозом и Тt (ТС) генотипом (р<0,01) [9].…”

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Significance of Gene Polymorphism of Vitamin D Receptor in Human Pathology

Бухалко¹,

Скрипченко²,

Скрипченко³

et al. 2017

Ross. vestn. perinatol. pediatr.

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Долгое время с момента открытия в 1913 г. ви-тамин D рассматривался только с точки зре-ния фосфорно-кальциевого обмена. Результаты многочисленных исследований последних лет показали, что витамин D в виде его гормональ-но-активной формы 1,25-дигидроксихолекальци-ферола или кальцитриола (1,25(ОH) 2 D) имеет ряд не связанных с костной системой эффектов. Био-логическое действие (эндокринное, аутокринное, паракринное) 1,25(ОН) 2 D реализуется путем свя-зывания с рецепторами витамина D, которые лока-лизованы в большинстве клеток и тканей организ-ма, таких как кости, почки, кишечник, иммунная система (Т-клетки, макрофаги и моноциты), ре-продуктивная система (матка, яички, яичники, предстательная железа, плацента и молочные же-лезы), эндокринная система (поджелудочная желе-за, гипофиз, щитовидная железа и надпочечники), © Коллектив авторов, 2017Адрес для корреспонденции: Бухалко Марина Александровна -аспирант отдела нейроинфекций и органической патологии нервной системы Детского научно-клинического центра инфекционных болезней у детей; старший лаборант кафедры инфекционных болезней Санкт-Петербург-ского государственного педиатрического медицинского университета Скрипченко Наталья Викторовна -засл. деятель науки РФ, д.м.н. проф., зам. директора Детского научно-клинического центра инфекционных бо-лезней у детей; зав. кафедрой инфекционных заболеваний у детей 197022 Санкт-Петербург, ул. Профессора Попова, д. 9, ORCID: 0000-0001-8927-3176 Скрипченко Елена Юрьевна -к.м.н., ст. н.с. отдела нейроинфекций и ор-ганической патологии нервной системы Детского научно-клинического центра инфекционных болезней у детей; доц. кафедры психоневрологии Санкт-Петербургского государственного педиатрического медицинского университета; зав. детским неврологическим отделением Институт мозга человека им. Н.П.Бехтеревой Имянитов Евгений Наумович -чл.-корр. РАН, д.м.н. проф., зав. кафедрой общей и молекулярной медицинской генетики Санкт-Петербургского го-сударственного педиатрического медицинского университета; зав. отделом биологии опухолевого роста НИИ онкологии им. Н.Н. Петрова 194100 Санкт-Петербург, Литовская ул., д.2 62:(6): 23-28. DOI: 10.21508/1027 62:(6): 23-28. DOI: 10.21508/ -4065-2017 The literature review presents information on the role of gene polymorphism of vitamin D receptor in human pathology. According to modern data, vitamin D is a hormone which has numerous pleiotropic effects on the human body by binding to its specific receptors (VDR). These effects can greatly determine the role of vitamin D in the occurence and the course of a number of widespread diseases of a modern man, including infectious pathology, autoimmune diseases, neuropsychiatric disorders. Special importance is currently attached to the receptor gene of vitamin D, VDR, which is characterized by a genetic polymorphism that can determine the features of implementation of the biological effects of calcitriol in the human body. The article presents the review data supporting the contribution of certain single nucleotide polymorphisms of gene VDR in the formatio...

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The vitamin D receptor gene FokI polymorphism and Multiple Sclerosis in a Northern Portuguese population

Cited by 21 publications

References 30 publications

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

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

Association between Vitamin D receptor gene polymorphism and the risk of Multiple Sclerosis: Systematic review and meta-analysis

Significance of Gene Polymorphism of Vitamin D Receptor in Human Pathology

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