Influence of the MIF polymorphism -173G > C on Turkish postmenopausal women with osteoporosis.

BACKGROUND: MIF, a proinflammatory cytokine, contributes to the pathogenesis of acute, chronic, and autoimmune inflammatory disorders and balances the suppressive effect of glucocorticoids on the immune system. There is an interaction between bone metabolism and the immune system via the production of cytokines. We aimed to analyze the relationship between the MIF gene -173G > C promoter polymorphism and osteoporosis. METHODS: In this case-control study performed in a university hospital, 286 samples (136 women with osteoporosis and 150 healthy age-matched controls) participated. The polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) assay was used to genotype the MIF gene polymorphism. The alleles and genotypes frequencies of patients and controls were compared using the χ2 test. RESULTS: The genotype frequencies of MIF gene -173G > C polymorphism showed statistically significant differences between patients and controls (p = 0.038). Also, the subjects carrying the variant C allele in the MIF -173 position were at significantly higher risk of osteoporosis than subjects carrying the wild-type G allele (p = 0.009, odds ratio 1.7, 95% confidence interval 1.1-2.6). CONCLUSION: Our study suggested a strong association between MIF gene -173G > C polymorphism and osteoporosis in a Turkish population.

The effect of IL-4 and MTHFR gene variants in ankylosing spondylitis.

PURPOSE: Ankylosing Spondylitis (AS) is a chronic inflammatory rheumatic disease that characteristically affects the sacroiliac joints and the spine. The exact pathogenesis of AS remains poorly understood, but genetic factors play a key role in disease development. Several genes have been consistently associated with susceptibility to AS. This study was conducted in Turkish AS patients to determine the frequency of the methylenetetrahydrofolate reductase (MTHFR) gene C677T and interleukin-4 (IL-4) gene 70 bp variable number of tandem repeats (VNTR) variants, as well as their association with clinical characteristics. METHODS: Genomic DNA obtained from 272 persons (122 AS patients and 150 healthy controls) was used in this study. Genomic DNA was isolated and genotyped using a polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) assay for the MTHFR C677T and IL-4 70 bp VNTR gene variants, which were determined using specific PCR primers. RESULTS: There was statistically significant difference between the groups with respect to MTHFR genotype distribution (p = 0.02) and allele frequencies (p < 0.001). When we examined MTHFR and IL-4 genotype frequencies according to clinical characteristics, we found an association between the homozygous MTHFR TT genotype and ocular involvement, although this did not reach statistical significance (p = 0.02). However, we did not find any difference between the groups with respect to IL-4 genotype distribution or allele frequencies and clinical characteristics (p > 0.05). CONCLUSION: Our findings suggest that there is an association of the MTHFR gene C677T polymorphism with the susceptibility of a person for development of AS. However, the IL-4 gene is not associated with AS within the same population.

De novo 18q deletion with mitral valve insufficiency.

We report an 18-year-old Turkish girl with an 18q- deletion and abnormalities of face, mental and growth retardation, mitral deficiency and hypothyroidism. Mitral deficiency has not been reported in 18q deletion syndrome cases previously. We performed cytogenetic and molecular cytogenetic analysis, and brain MRI. Her karyotype was 46,XX,del(18)(q21.2-->qter). This report compares the symptoms and features of the present patient with previously reported cases with 18q syndrome.