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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| Format: | Article |
| Language: | English |
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SpringerOpen
2019-08-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s43042-019-0009-2 |
| _version_ | 1818878851011313664 |
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| author | Amina H. Hassab Ahmed H. Deif Dalia A. Elneely Ireny M. Tawadros Amira I. Fayad |
| author_facet | Amina H. Hassab Ahmed H. Deif Dalia A. Elneely Ireny M. Tawadros Amira I. Fayad |
| author_sort | Amina H. Hassab |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-19T14:20:44Z |
| format | Article |
| id | doaj.art-602ad965cc9548bebddd3ea98451989a |
| institution | Directory Open Access Journal |
| issn | 2090-2441 |
| language | English |
| last_indexed | 2024-12-19T14:20:44Z |
| publishDate | 2019-08-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj.art-602ad965cc9548bebddd3ea98451989a2022-12-21T20:17:47ZengSpringerOpenEgyptian 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 |
| 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 |
| title | 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_short | 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 |
| 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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