Mujgan Ozdemir Erdogan

As a New Inflammatory Marker for Familial Mediterranean Fever: Neutrophil-to-Lymphocyte Ratio

Familial Mediterranean fever (FMF), which is an autosomal recessive disease, is characterised by recurrent febrile episodes in association with peritonitis, pleuritis and arthritis and has ongoing subclinical inflammation during attack-free period. In this study, we aimed to investigate the relationship between FMF with neutrophil-to-lymphocyte ratio (NLR), which is determined in many chronic inflammations as a new potential inflammatory mediator. We included 62 patients and 41 healthy subjects who were similar in terms of age and sex. We found that the NLR values of the patients were significantly higher than those of the control group, and C-reactive protein values were correlated with NLR. Another finding was the NLR values were significantly higher in the FMF patient with M694V mutation than with other mutations. As a result, NLR might be used in the FMF patient as an indicator of the subclinical inflammation, and the FMF patients with M694V mutation should be followed up closely because of increased subclinical inflammation risk.

Association of the polymorphisms of vitamin D receptor and aggrecan genes with degenerative disc disease.

The aim of this study was to investigate the association between the polymorphisms of the vitamin D receptor (VDR) and aggrecan genes and degenerative disc disease in young Turkish patients. Aggrecan and VDR proteins are the main components of bone and cartilage. In our study, the polymorphisms of the VDR and aggrecan genes were investigated in a total of 300 individuals regarding disc degeneration and herniation. An association was found in the patients having VDR gene TT, Tt, FF, and Ff genotypes with the protrusion type of disc herniation, whereas the patients having tt and ff genotypes were associated with extrusion/sequestration types of the disease. Also, an association was observed between TT and FF genotypes of the VDR gene and mild forms of disc degeneration; and tt, ff, and Ff genotypes and severe forms of the disease. There was also an association between shorter, normal, and longer alleles of the aggrecan gene and a protrusion type of disc herniation. An association was found between short alleles and multilevel and severe disc degeneration, as well as normal and long alleles and mild disc degeneration. This study revealed that the polymorphisms of the VDR and aggrecan genes are associated with disc degeneration and herniation.

Association of estrogen receptor alpha and collagen type I alpha 1 gene polymorphisms with bone mineral density in postmenopausal women

SummaryIn this study, ERα gene PvuII and XbaI polymorphisms and COL1A1 gene Sp1 polymorphisms in postmenopausal women were compared with lumbar vertebra and femoral neck BMD values. In conclusion, it was designated that PvuII polymorphism was effective on average lumbar vertebra BMD value in postmenopausal women of our study group.IntroductionBone mineral density (BMD), the major determinant of osteoporotic fracture risk, has a strong genetic component. Several candidate gene polymorphisms have been implicated in the regulation of this process. In this study, the relationship among BMD values of lumbar vertebra and femoral neck and ERα gene PvuII and XbaI polymorphisms and COL1A1 gene Sp1 polymorphism in 126 postmenopausal women (30 normal, 46 osteopenic, and 50 osteoporotic in terms of bone mineral density) was researched.MethodsThe ERα gene PvuII and XbaI genotypes were determined by polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) whereas the COL1A1 gene Sp1 genotype was determined by real-time PCR. BMDs at the lumbar spine (vertebrae L1–L4) and hip (femur neck) were measured by dual-energy X-ray absorptiometry.ResultsAccording to our study results, the significant difference was found in women with normal, osteopenic, and osteoporotic bone mass in terms of ERα gene PvuII polymorphism “pp” genotype frequency. The “pp” genotype frequency was significantly lower in women with normal bone mass. Average lumbar vertebra BMD value of women with “PP” genotype was significantly higher than that with “pp” genotype. On the other hand, in the evaluations on ERα gene XbaI polymorphism and COL1A1 gene Sp1 polymorphism, it was noted that there was no difference in terms of average BMD values, genotype, and allele frequencies among groups.ConclusionIn conclusion, it was designated that ERα gene PvuII polymorphism was effective on average lumbar vertebra BMD value in postmenopausal women of our study group.

Association of schizophrenia with T102C (rs6313) and 1438 A/G (rs6311) polymorphisms of HTR2A gene

Objective The aim of this study is to investigate whether there were any associations between the T102C and 1438 A/G polymorphisms of the 5-HT2A receptor gene and schizophrenia. We conducted a case–control study of the T102C and 1438 A/G polymorphisms in Turkish patients. Methods We compared genotypes and allele frequencies of T102C and 1438 A/G polymorphisms of 5-HT2A receptor gene in 102 patients with schizophrenia diagnosed, according to DSM-IV, and 107 healthy controls. Genotyping was performed by real-time polymerase chain reaction. Results We found no significant association between schizophrenia and genotypic or allele frequencies of HTR2A gene 102T/C (rs6313) and 1438 A/G (6311) polymorphisms. However, comparison of HTR2A gene 102 T/C and 1438 A/G polymorphisms in terms of genotypic and allele frequencies between the two patient groups, with or without a family history of schizophrenia, shows that T- and A-allele frequencies were significantly higher (p < 0.05) in the case group that has a history of schizophrenia in their family. Conclusion In conclusion, our results do not support the hypothesis that the T102C and 1438 A/G polymorphisms in the 5-HT2A receptor gene are associated with schizophrenia, but further studies in a larger sample are needed.

Genotyping for Cx26 and Cx30 Mutations in Cases with Congenital Hearing Loss

Hearing loss is the most frequent sensory defect in human being. The 13q11-q12 region contains the GJB2 and GJB6 genes, which code connexin 26 (CX26) and connexin 30 (CX30) proteins, respectively. The 35delG, 167delT, and 235delC mutations in the Cx26 gene are the main cause for sporadic nonsyndromic hearing loss (NSHL) in many populations. The 342-kb deletion [del(GJB6-D13S1830)] of the Cx30 gene is the second most common connexin mutation after the 35delG mutation in some NSHL populations. In our study 47 hearing-impaired students were included. The Cx26 gene and the Cx30 gene were analyzed for presence of the 35delG, 167delT, and 342-kb deletion [del(GJB6-D13S1830)]. Genotyping were performed for detecting 35delG, 167delT, and del(GJB6-D13S1830) mutations using the PCR-ELISA techniques. According to the results obtained from 47 cases, the 35delG mutation was detected in 7 cases ( approximately 14.9%). Four of these mutations were determined as homozygote mutant ( approximately 8.5%), and three were determined as heterozygote mutant ( approximately 6.4%). However, 167delT and del(GJB6-D13S1830) mutations were not detected in the study group. These results support the overwhelming majority of 35delG in our study group from deafness school in our study. In conclusion, the 35delG mutation was determined as the most frequently shown mutation that leads to congenital hearing loss as in previous studies from Turkey.

Association of Alzheimer's Disease With APOE and IL-1α Gene Polymorphisms

Apolipoprotein E (ApoE) gene polymorphisms are thought to be the most important genetic risk factor in the pathogenesis of late onset and sporadic Alzheimer’s disease (AD). Moreover, interleukin-1α (IL-1α) is found to be associated with the pathogenesis of AD. In this research, ∊2, ∊3, and ∊4 polymorphisms of ApoE gene and C889T polymorphism of IL-1α gene were genotyped in patients with AD and controls. Genotyping was performed by real-time polymerase chain reaction. ∊3/∊3 and ∊3/∊4 genotype frequencies were significantly higher in control and case groups, respectively. While ∊3 allele frequencies were significantly higher in the control group, ∊2 and ∊4 allele frequencies were significantly higher among the cases with AD. No difference was found between the groups according to C889T polymorphism of IL-1α. In conclusion, we demonstrated that there was a strong association between ApoE ∊4 allele and AD, while there was no relation with IL-1α C889T polymorphisms for this study.

Is There an Association Between NOD2 Gene Polymorphisms and Chronic Obstructive Pulmonary Disease Progression

ABSTRACT Chronic obstructive pulmonary disease (COPD) is characterized by persistent airflow limitation associated with an increased chronic inflammation. Recent studies suggest that innate immune system receptors may be involved in this enhanced response as observed in COPD. The aim of this study is to investigate the correlation between the nucleotide-binding and oligomerization domain 2 (NOD2) polymorphisms and development, severity and progression of COPD in the Turkish population. Three NOD2 polymorphisms were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and real time PCR analysis involving 168 patients and 100 healthy controls. No statistical difference was observed between the case and the control groups for genotype and allele frequencies of the rs2066844, rs1077861 and rs3135500 polymorphisms. Contrary to the available literature, annual forced expiratory volume in one second (FEV1) decline was statistically greater in GG carriers of the rs3135500 polymorphism than in AA carriers (p=0.048). The NOD2 gene rs3135500 polymorphism may be related progression of COPD in the Turkish population.