The Association of Vitamin D Receptor Polymorphisms with Multiple Sclerosis in a Case-Control Study from Kuwait

Background. Multiple sclerosis (MS) is a chronic autoimmune inflammatory disease. Low vitamin D levels have been reported to be a risk factor for MS, and genetic variances could be implicated. The aim of this study was to evaluate the association of MS with rs10766197 polymorphism of CYP2R1 gene and rs10877012 polymorphism of CYP27B1 gene. The second aim was to analyse whether these polymorphisms are associated with the severity of the progression of MS. Material and Methods. In a case-control study, we included 116 MS patients and 226 controls, all of whom were Mexican Mestizo. MS was diagnosed by McDonald criteria (2017). A complete neurological evaluation was performed to evaluate the severity of disease progression. Serum 25-hydroxyvitamin D [25(OH) vitamin D] levels were measured by ELISA. Single nucleotide polymorphisms rs10766197 of CYP2R1 gene and rs10877012 SNP of CYP27B1 gene were genotyped by real-time PCR. Results. Serum 25(OH) vitamin D levels were lower in MS patients than in controls ( p = 0.009 ). No differences were observed between serum 25(OH) vitamin D levels of MS patients with severe progression compared to low progression ( p = 0.88 ). A higher frequency of the A allele of CYP2R1 rs10766197 was observed between MS patients and controls ( p = 0.05 ). No differences were observed in the frequency of T allele of CYP27B1 rs10877012 ( p = 0.65 ). In subanalysis, patients with GA + AA genotypes of CYP2R1 rs10766197 had an increased risk of MS compared to controls ( p = 0.03 ). No increased risk was observed in GT + TT genotypes of CYP27B1 rs10877012 ( p = 0.63 ). No differences were observed in allele frequencies of either polymorphism between patients with severe vs. low disease progression. Conclusion. Lower serum 25(OH) vitamin D levels were observed in MS patients than in controls, although these levels were not associated with disease progression. Carriers of GA + AA genotypes of CYP2R1 rs10766197 had an increased risk of MS. None of these polymorphisms was associated with severe progression of MS.

Download Full-text

Vitamin D Receptor (VDR) Gene Polymorphism and Type 2 Diabeticmellitus (T2DM)-A Case Control Study in Ethnic Population of Kashmir Valley

Advanced Research in Gastroenterology & Hepatology ◽

10.19080/argh.2017.04.555648 ◽

2017 ◽

Vol 4 (5) ◽

Cited By ~ 1

Author(s):

Sabhiya Majid

Keyword(s):

Vitamin D ◽

Gene Polymorphism ◽

Vitamin D Receptor ◽

Case Control Study ◽

Case Control ◽

Kashmir Valley ◽

Ethnic Population ◽

Vdr Gene ◽

Control Study

Download Full-text

Association of BsmI variant of vitamin D receptor gene with polycystic ovary syndrome: A case-control study

International Journal of Reproductive BioMedicine ◽

10.18502/ijrm.v13i10.7772 ◽

2020 ◽

Author(s):

Nasim Ramezani ◽

Maryam Ostadsharif ◽

Hashem Nayeri

Keyword(s):

Vitamin D ◽

Polycystic Ovary Syndrome ◽

Vitamin D Receptor ◽

Case Control Study ◽

Polycystic Ovary ◽

Case Control ◽

Metabolic Parameters ◽

Genotypic Frequency ◽

Ovary Syndrome ◽

Control Study

Background: Polycystic ovarian syndrome (PCOS) is an endocrine disorder that affects women’s fertility and causes alterations such as obesity, insulin resistance, menstrual irregularities, and polycystic ovaries. The results of the studies show that the issue of vitamin D and vitamin D receptor (VDR) is controversial for PCOS susceptibility. Objective: To investigate the association of BsmI polymorphism in the VDR gene with metabolic parameters in obese PCOS women. Materials and Methods: In this case-control study, 38 obese subjects with PCOS and 40 unrelated obese individuals were evaluated to determine the allelic and genotypic frequency of BsmI variant by Polymerase Chain Reaction Restriction Fragment Length Polymorphism method. Body Mass Index, parathyroid hormone, phosphorus, and calcium were evaluated in all participants. Results: BsmI (rs1544410), (A/G) AA, AG, GG, A, and G percentage of genotypic/allelic frequencies were 65.8, 26.3, 7.9, 78.9, and 21.1 in cases and 57.5, 40, 2.5, 77.5, and 22.5 in controls, respectively. Statistical analysis revealed that the differences in genotypic (p = 0.31)/allelic (p = 0.83) frequencies and dominant (p = 0.45)/recessive (p = 0.35) models between the cases and controls were not significant. This study indicates no association between the BsmI genotypes and metabolic parameters. Conclusion: It can be concluded that VDR BsmI (rs1544410) Intron 8 (A > G) was not associated with obesity along with PCOS susceptibility in the studied groups. Key words: Vitamin D receptor, Polycystic ovary syndrome, Genetic association study.

Download Full-text