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

Autor:	Ireny M. Tawadros, Amira I. Fayad, Ahmed H. Deif, Amina H Hassab, Dalia A. Elneely
Jazyk:	angličtina
Rok vydání:	2019
Předmět:	0301 basic medicine medicine.medical_specialty Linkage disequilibrium TaqI lcsh:QH426-470 Population Single-nucleotide polymorphism Calcitriol receptor Multiple sclerosis 03 medical and health sciences chemistry.chemical_compound PCR-RFLP 0302 clinical medicine Internal medicine Genotype medicine education VDR-SNPs Genetics (clinical) education.field_of_study lcsh:R5-920 biology Haplotype structure Haplotype FokI lcsh:Genetics 030104 developmental biology Endocrinology chemistry 030220 oncology & carcinogenesis biology.protein lcsh:Medicine (General)
Zdroj:	Egyptian Journal of Medical Human Genetics, Vol 20, Iss 1, Pp 1-9 (2019)
ISSN:	2090-2441
Popis:	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
Databáze:	OpenAIRE
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