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Vitamin D receptor gene polymorphisms in multiple sclerosis patients in northwest Greece

DOI: 10.1186/1477-5751-10-3

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Abstract:

The mean age of patients was 39 ± 10.5 years compared to 38.7 ± 10.7 years of the controls (p = 0.86), the BMI was 24.8 ± 4.2 kg/m2 compared to 25.7 ± 4.8 kg/m2 of the controls (p = 0.23), the BMD in the lumbar spine 0.981 ± 0.15 compared to 1.025 ± 013 of the controls (p = 0.06) and the total hip BMD was 0.875 ± 0.14 compared to 0.969 ± 0.12 of the controls (p < 0.001). There were no differences of the Taq-I (TT, CT, CC) and Bsm-I genotypes (GG, GA, AA) and allelic frequencies between MS and control individuals. Multivariate analysis also failed to show any association of the Taq-I and Bsm-I polymorphisms and MS or sex, BMI, BMD and smoking history.This study suggests that the Taq-I and Bsm-I polymorphisms of the VDR gene are not associated with MS risk, BMI or BMD in the Greek population studied.Multiple sclerosis (MS) is a progressive demyelinating disease of the central nervous system (CNS) that occurs mainly in young adults, frequently leading to substantial disability several years after diagnosis [1]. Vitamin D is essential for bone and mineral homeostasis and exhibits immunoregulatory and anti-inflammatory properties [2]. Abnormal regulation of vitamin D metabolism has been linked to MS and other diseases such as type 1 diabetes, cancer, and osteoporosis [3-7]. Vitamin D acts through the vitamin D receptor (VDR) and the membrane associated rapid response steroid binding receptor (MARRS) [8]. Certain polymorphisms of the VDR gene may modify vitamin D function and metabolism and have been examined in studies evaluating the role of vitamin D on MS [9].Several such studies that have investigated the role of VDR gene polymorphisms in various ethnic groups have produced conflicting results. A Japanese study reported an association between the Bsm-I VDR gene allelic polymorphism and MS [10]. An Australian MS case-control study found a significant difference of the Taq-I polymorphism genotype distribution in MS patients [11]. Similar results were reported in other s

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