Urolithiasis is a multifactorial disease, the onset and severity of which is influenced by both genetic and environmental factors. This study represents an investigation of the role of vitamin D receptor (VDR) gene polymorphisms (ApaI, BsmI, and TaqI) and combined genotypes in urolithiasis in a Turkish population. We studied 110 patients with urinary stones and 150 control subjects. The polymorphic regions were amplified using polymerase chain reaction, followed by digestion with restriction enzymes BsmI, ApaI, and TaqI, and analyzed electrophoretically. Genotype and allele frequencies were calculated, and the association with urolithiasis, family history, and recurrence of stone was investigated. Our data provide no evidence for an association between urolithiasis and VDR ApaI, BsmI, and TaqI genotypes. We also analyzed the effects of VDR ApaI, BsmI, and TaqI genotypes in combination; the "GTT" VDR haplotype, constructed from three adjacent restriction fragment length polymorphisms was overrepresented among the urolithiasis patients. However, no significant differences between heterozygous carriers (OR 1.302; 95% CI 0.527-3.215) and homozygous carriers (OR 3.39; 95% CI 0.719-15.985) were observed in our study population. A significant association was found only between the ApaI polymorphism and family history (P=0.017; chi (2)=5.657). Our data indicate that the VDR ApaI, BsmI, and TaqI polymorphisms do not confer a significant risk for urolithiasis.

Genetic and environmental factors are thought to play roles in the etiopathology of fibromyalgia syndrome (FMS). The objective of this study was to determine the potential effects of single nucleotide polymorphisms (SNPs) in catechol-O-methyltransferase (COMT) (rs4680) and 5-hydroxytryptamine (serotonin) 2A (5-HT2A) receptor (rs6313 and rs6311) genes on susceptibility to FMS. One hundred seventy-one women (80 FMS, 91 control) were enrolled in the study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for the genotyping analyses. Genotype and allele frequencies were calculated by the chi-square test. Beck depression inventory, state and trait anxiety inventory and symptom checklist-90 revised (SCL-90-R) tests were applied to both patients and controls. There were no observed differences in the frequencies of alleles and genotypes between patients and controls for the COMT, and the two 5-HT2A receptor gene polymorphisms (P>0.05). Our results suggest that the investigated polymorphisms seem not to be the susceptibility factors in etiology of FMS.

Within the limitations of sample selection and number, the IL-10 gene polymorphism at position -597 seems to be associated with severe generalized CP.

MMP-9 promoter gene polymorphism seems to be associated with severe generalized chronic periodontitis.

The aim of this study was to investigate the effect of PPAR-α intron 7G>C and PPARGC1A gene Gly482Ser polymorphisms on aerobic performance of elite level endurance athletes. This study was carried out on 170 individuals (60 elite level endurance athletes and 110 sedentary controls). Aerobic performance of athletes and sedentary control groups were defined by maximal oxygen uptake capacity. DNA was isolated from peripheral blood using GeneJet Genomic DNA Purification kit. Genotyping of the PPAR-α intron 7G>C and PPARGC1A Gly482Ser polymorphisms was performed using PCR-RFLP methods, and statistical evaluations were carried out using SPSS 15.0. Mean age of athletes were 21.38 ± 2.83 (18-29) and control mean age were 25.92 ± 4.88 (18-35). Mean maximal oxygen consumption of athletes were 42.14 ± 7.6 ml/(kg min) and controls were 34.33 ± 5.43 ml/(kg min). We found statistically significant differences between the athlete and control groups with respect to both PPAR-α and PPARGC1A genotype distributions (p = 0.006, <0.001, respectively) and allele frequencies (<0.001, <0.001, respectively). Additionally, when we examined PPAR-α and PPARGC1A genotype distributions according to the aerobic performance test parameters, we found a statistically significant association between velocity, time and maximal oxygen consumption and PPAR-α and PPARGC1A genotypes (p < 0.001). To our knowledge, this is the first study in Turkey examined PPAR-α intron 7G>C and PPARGC1A Gly482Ser gene polymorphisms in elite level endurance athletes. Our results suggest that PPAR-α and PPARGC1A genes have strong effect on aerobic performance of elit level athletes.

No abstract

The polymorphisms in codon 72 of the tumor suppressor protein p53 (P53) gene and codon 655 of the human epidermal growth factor receptor 2 (HER2) gene have been suggested to play roles in most cancers. The purpose of this study was to investigate the association between common variants of HER-2 and P53 genes with breast cancer risk. Blood samples collected from 204 women with primary breast carcinoma and 192 healthy female controls were analyzed through polymerase chain reaction-restriction fragment length polymorphism methods. The frequencies of Arg/Arg, Arg/Pro, and Pro/Pro genotypes for P53 codon 72 were 51.7%, 41.4%, and 6.9% in patients and 42.6%, 47.3%, and 10.1% in controls, respectively. The frequencies of Ile/Ile, Ile/Val, and Val/Val genotypes for HER2 codon 655 were 75.0%, 22.5%, and 2.5% in patients and 73.4%, 25.0%, and 1.6% in controls, respectively. The genotype and allele frequencies between patient and control groups for P53 gene polymorphism were not significantly different (p = 0.177 and p = 0.07, respectively). Similarly, the genotype and allele frequencies between patient and control groups for HER2 gene polymorphism were not significantly different (p = 0.716 and p = 0.891, respectively). With the exception of association between the P53 codon 72 polymorphism and tumor stages (p = 0.026), there was no significant association between the studied polymorphisms and clinicopathological characteristics. The P53 gene codon 72 Arg/Pro and Her2 gene Ile655Val polymorphisms were not associated with the risk of breast cancer in Turkish women. However, significant associations between the P53 codon 72 and the homozygote and heterozygote Pro genotypes with tumor stages were found.

The IL-4 polymorphisms were not related to severe generalized chronic periodontitis in a Turkish population.