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

Abstract 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...

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Main Authors: Amina H. Hassab, Ahmed H. Deif, Dalia A. Elneely, Ireny M. Tawadros, Amira I. Fayad
Format: Article
Language:English
Published: SpringerOpen 2019-08-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Online Access:http://link.springer.com/article/10.1186/s43042-019-0009-2
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spelling doaj-602ad965cc9548bebddd3ea98451989a2020-11-25T03:48:12ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412019-08-012011910.1186/s43042-019-0009-2Protective association of VDR gene polymorphisms and haplotypes with multiple sclerosis patients in Egyptian populationAmina H. Hassab0Ahmed H. Deif1Dalia A. Elneely2Ireny M. Tawadros3Amira I. Fayad4Clinical and Chemical Pathology Department, Clinical Immunology and Histocompatibility Unit, Faculty of Medicine, Alexandria UniversityNeuropsychiatry Department, Faculty of Medicine, Alexandria UniversityClinical and Chemical Pathology Department, Clinical Immunology and Histocompatibility Unit, Faculty of Medicine, Alexandria UniversityClinical and Chemical Pathology Department, Clinical Immunology and Histocompatibility Unit, Faculty of Medicine, Alexandria UniversityClinical and Chemical Pathology Department, Clinical Immunology and Histocompatibility Unit, Faculty of Medicine, Alexandria UniversityAbstract 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.http://link.springer.com/article/10.1186/s43042-019-0009-2Haplotype structureLinkage disequilibriumMultiple sclerosisPCR-RFLPVDR-SNPs
collection DOAJ
language English
format Article
sources DOAJ
author Amina H. Hassab
Ahmed H. Deif
Dalia A. Elneely
Ireny M. Tawadros
Amira I. Fayad
spellingShingle Amina H. Hassab
Ahmed H. Deif
Dalia A. Elneely
Ireny M. Tawadros
Amira I. Fayad
Protective association of VDR gene polymorphisms and haplotypes with multiple sclerosis patients in Egyptian population
Egyptian Journal of Medical Human Genetics
Haplotype structure
Linkage disequilibrium
Multiple sclerosis
PCR-RFLP
VDR-SNPs
author_facet Amina H. Hassab
Ahmed H. Deif
Dalia A. Elneely
Ireny M. Tawadros
Amira I. Fayad
author_sort Amina H. Hassab
title Protective association of VDR gene polymorphisms and haplotypes with multiple sclerosis patients in Egyptian population
title_short Protective association of VDR gene polymorphisms and haplotypes with multiple sclerosis patients in Egyptian population
title_full Protective association of VDR gene polymorphisms and haplotypes with multiple sclerosis patients in Egyptian population
title_fullStr Protective association of VDR gene polymorphisms and haplotypes with multiple sclerosis patients in Egyptian population
title_full_unstemmed Protective association of VDR gene polymorphisms and haplotypes with multiple sclerosis patients in Egyptian population
title_sort protective association of vdr gene polymorphisms and haplotypes with multiple sclerosis patients in egyptian population
publisher SpringerOpen
series Egyptian Journal of Medical Human Genetics
issn 2090-2441
publishDate 2019-08-01
description Abstract 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.
topic Haplotype structure
Linkage disequilibrium
Multiple sclerosis
PCR-RFLP
VDR-SNPs
url http://link.springer.com/article/10.1186/s43042-019-0009-2
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