Association of vitamin D binding protein polymorphisms with bronchopulmonary dysplasia: a case-control study of gc globulin and bronchopulmonary dysplasia.

OBJECTIVE: The pathophysiologies of bronchopulmonary dysplasia (BPD) are inflammation, infection, tissue damage, angiogenesis defects and genetic susceptibility. Because of the role of the vitamin D binding protein (Gc globulin) on these factors, we investigated the relationship between Gc globulin polymorphisms and BPD. STUDY DESIGN: This case-control study was performed with 160 neonates (⩽32 gestational ages, ⩽1500 g). PCR DNA sequence analyses were used for GC gene rs4588 and rs7041 single-nucleotide polymorphisms. RESULT: In the univariate analyses, it was observed that Gc2 was the only variant that was protective against BPD (Odd ratio (OR)=0.47, 95% coinfidence interval (CI)=0.24 to 0.89, P=0.020). In the multivariate analyses, Gc2 decreased the risk of disease (OR=0.15, 95% CI=0.029 to 0.79, P=0.026) independent of gestational age, birth weight, 5-min Appearance, Pulse, Grimace, Activity, and Respiration scores, respiratory distress syndrome and sepsis. CONCLUSION: The Gc2 variant was, after adjusting for confounders, associated with a decrease in the frequency of BPD. Our study adds Gc globulin to the list of candidate genes that potentially contribute to the etiology of the disease.

Vascular endothelial growth factor gene polymorphisms in Turkish patients with sarcoidosis.

Polymorphism at +813 locus of vascular endothelial growth factor (VEGF) gene is considered to decrease predisposition to sarcoidosis. Our study aimed to investigate the roles of this polymorphism in the development and extent of sarcoidosis. We examined polymorphisms of the VEGF gene in 90 cases with histopathological diagnosis of sarcoidosis and in 110 healthy subjects. VEGF +813 gene polymorphisms were determined using a polymerase chain reaction-based method after DNA isolation. A significant increase in the frequency of the T allele was found in healthy subjects (odds ratio 0.55; 95% confidence interval 0.32-0.97, P<0.05). Our results suggest that increase in rarer T allele at + 813 locus of VEGF gene may diminish susceptibility to sarcoidosis in Turkish population.

Prevalence of Helicobacter pylori vacA, cagA, cagE, iceA, babA2 genotypes and correlation with clinical outcome in Turkish patients with dyspepsia.

BACKGROUND: Distinct virulence factors of Helicobacter pylori have been associated with clinical outcome of the infection; however, considerable variations have been reported from different geographic regions and data on genotypes of Turkish H. pylori isolates are sparse. AIM: To determine the prevalence of specific genotypes of H. pylori in Turkish patients with dyspepsia. MATERIALS AND METHODS: Ninety-three H. pylori-positive patients [30 with non-ulcer dyspepsia (NUD), 30 with duodenal ulcer (DU), and 33 with gastric cancer (GC)] who were admitted to our endoscopy unit due to dyspepsia were enrolled in the study. H. pylori infection was confirmed in all patients by histology and rapid urease test (RUT). The presence of vacA alleles, cagA, cagE, iceA, and babA2 genotypes were determined by polymerase chain reaction (PCR). Chi-squared test and Fisher's exact test were used for statistical comparisons and multivariate regression analysis was performed to find out independent predictors of different clinical outcomes. RESULTS: Turkish strains examined predominantly possessed the vacA s1,m2 (48.4%) and s1,m1 (40.7%) genotypes. The vacA s1a genotype was detected in 66.7, 96.4, and 87.9% of isolates from patients with NUD, DU, and GC, respectively, and its presence was significantly associated with that of DU (p = .004), GC (p = .043), and cagA gene (p = .021). None of the cases was found to harbor the s1c genotype. The frequencies of the cagA and cagE genes among studied isolates were 73.6 and 59.3%, respectively. The cagA gene was significantly associated with the presence of DU (p = .004) and GC (p = .003), and the cagE gene, too, was significantly associated with the presence of DU (p = .002) and GC (p = .000). All H. pylori isolates possessed the iceA gene. In all, 68 isolates (74.7%) were positive for iceA1 and 23 (25.3%) for iceA2. The frequency of icea1 gene was significantly higher in cases with GC (85%) than in cases with NUD (60%) (p = .026). The frequency of babA2 gene was 23.3, 46.4, and 87.9% in isolates of patients with NUD, DU, and GC, respectively. When compared to cases with NUD (p = .000) and DU (p = .000), the presence of babA2 gene was significantly higher in cases with GC. Multivariate regression analysis disclosed cagE (p = .006) and vacA s1a (p = .027) genotypes to be independent predictors of DU and babA2 (p = .000) and cagE (p = .013) genotypes to be independent predictors of GC. CONCLUSIONS: H. pylori vacA s1a, cagA, cagE genotypes have significant relations with the presence of DU and GC, and iceA1, babA2 with GC in Turkish patients with dyspepsia, whereas cagE and vacA s1a genotypes are independent predictors of DU, and babA2 and cagE genotypes are independent predictors of GC.

The relationship between arthritis and human parvovirus B19 infection.

In order to evaluate the role of human parvovirus B19 in the etiopathogenesis of autoimmune diseases such as rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE), synovial fluid and blood specimens were collected at 1-month intervals from 20 patients with early synovitis (ES) and 31 with RA. Blood specimens were also collected from 25 patients with SLE, 25 with osteoarthritis (OA) as the diseased control group, and 50 healthy blood donors (HBD) as the healthy control group. Detection of B19 IgM and B19 IgG were performed by enzyme-linked immunosorbent assay from serum specimens, and B19 DNA was detected by polymerase chain reaction from synovial fluid samples. B19 IgM, B19 IgG, and B19 DNA were found in the three patients of the ES group. Subsequently, two of them were diagnosed with RA and one with SLE. B19 DNA was also detected in the synovial fluid of eight patients in the RA group. Of them, all were positive for B19 IgG and half were positive for B19 IgM. B19 IgM was not detected in either of the control groups. To define the role of B19 in the etiopathogenesis and prognosis of undiagnosed arthritis and other chronic inflammatory diseases such as RA and SLE, we need broader serial and prospective studies based on clinical and laboratory collaboration. In conjunction with case reports, these studies would also serve to detect other possible factors in the etiopathogenesis of chronic inflammatory diseases.

Multiplex detection of common mutations in the Connexin-26 gene.

Hearing impairment that results from inherited genetic defects occurs in approximately 1/2,000 live births. Mutations in the Connexin-26 gene have been shown to be a major contributor to prelingual, nonsyndromic, autosomal recessive deafness in many populations. The most common mutations in this gene are 35delG, 167delT, 235delC, M34T, and W77X. We describe a nonisotopic, single-tube, polymerase chain reaction (PCR) multiplex system for the detection of these common mutations. The method presented is reliable, simple, and low in cost.