The association between vitamin D receptor gene polymorphisms (TaqI and FokI), Type 2 diabetes, and micro-/macrovascular complications in postmenopausal women.

INTRODUCTION: Since there is evidence of the action of vitamin D as a modulator of insulin release and atherosclerosis, it may well be that the vitamin D receptor polymorphisms are associated with diabetes and its chronic complications. AIMS: To examine the associations between vitamin D receptor polymorphisms (FokI and TaqI) and Type 2 diabetes (T2DM) and its associated chronic complications in postmenopausal women. METHODS: This cross-sectional study analyzed 100 postmenopausal women with T2DM (mean age 65.7±7.18 years) and 100 postmenopausal women without diabetes in the control group (mean age 65.1±9.18 years; P=0.1608). We evaluated clinical and metabolic parameters and analyzed TaqI and FokI polymorphisms. RESULTS: There were no significant differences in genotype and allele frequencies between patients and controls in either of the polymorphisms studied. In the group of patients with diabetes, there were no significant differences in either polymorphism in relation to stroke, retinopathy, nephropathy, or neuropathy. However, in patients with T2DM and coronary artery disease, f genotype (P=0.0361) and the combination of Ff + ff genotypes were observed less frequently (P=0.0462). CONCLUSION: This study suggests the potential protective factor of FokI polymorphism for coronary artery disease in postmenopausal women with T2DM in the recessive model.

Mannose-binding lectin serum levels in patients with leprosy are influenced by age and MBL2 genotypes.

BACKGROUND: Mannose-binding lectin (MBL) activates the complement system promoting opsonophagocytosis, which could represent an advantage for Mycobacterium leprae, an intracellular pathogen. Therefore, a single nucleotide polymorphism (SNP) in the MBL2 gene associated with low levels of MBL could confer protection against the development of leprosy disease. METHODS: In this study, we investigated SNPs of the MBL2 gene and MBL levels in 228 Brazilian leprosy patients and 232 controls. RESULTS: There were no differences in the frequencies of variant genotypes and haplotypes of MBL2 between patients and controls, or between the different clinical forms of leprosy. In the group of patients with a genotype for high expression of MBL2, those aged>40 years had decreased MBL levels compared to patients aged ≤ 40 years (p = 0.037). CONCLUSION: Our results demonstrate that age could influence the phenotype of MBL2, but no evidence was found for an association of MBL2 polymorphism with susceptibility to leprosy or its clinical forms.