The investigation of association between IL-1Ra and ACE I/D polymorphisms in carpal tunnel syndrome

WOS: 000423046100052PubMed ID: 28370589BackgroundCarpal tunnel syndrome (CTS) is a common neurologic impairment caused by injury on the median nerve in the wrist, characterized by pain and loss of sensory. CTS usually occurs through three factors, such as a mechanical pressure on median nerve, immunologic changes, and oxidative stress. The aim of this study was to evaluate the influence of interleukin-1 receptor antagonist (IL-1Ra) and angiotensin-converting enzyme (ACE) I/D polymorphisms on the susceptibility of patients to the CTS. MethodsOne hundred fifty-eight patients with CTS and 151 healthy controls were enrolled in this study. Each patient was analyzed according to diseases symptoms, such as gender, a positive Tinel's sign, a positive Phalen maneuver, disease sides, EMG findings, and clinical stage. We applied the polymerase chain reaction (PCR) to determine the polymorphisms of IL-1Ra and ACE I/D. ResultsThe statistically significant relation was not found between IL-1Ra, ACE I/D polymorphisms and CTS (respectively, P>.05; P>.05, OR: 1.51, CI: 0.82-1.61). Additionally, in the result of the statistical analysis compared with gene polymorphisms and clinical characteristics, we did not find any correlation (P>.05). ConclusionsOur findings showed that there are no associations of IL-1Ra and ACE I/D polymorphisms with susceptibility of a person for the development of CTS. So, it means that these polymorphisms do not create a risk for the development of CTS. Further studies with larger populations will be required to confirm these findings in different study populations

Mutational Spectrum of the MEFV Gene in AA Amyloidosis Associated With Familial Mediterranean Fever

WOS: 000382833300002PubMed ID: 27225717Introduction. Familial Mediterranean fever (FMF) is a recessively inherited disease which is characterized by recurrent episodic fever, abdominal pain, and polyserositis. It is caused by mutations in the MEFV gene, encoding the pyrin protein. The most important complication of FMF is secondary (AA) amyloidosis that leads to kidney failure. This study aimed to identify the frequency and distribution of MEFV mutations in Turkish patients with FMF-associated AA amyloidosis. Materials and Methods. A total of 57 patients with FMF-associated AA amyloidosis and 60 healthy controls were included in this study. We analyzed the MEFV gene for E148Q, M694V, M680I, and V726A mutations and R202Q variant by polymerase chain reaction and restriction fragment length polymorphism methods. Results. The male-female ratio was 0.72. The mean age of the patients was 29.8 +/- 12.8 years. Among the patients, the rate of the MEFV mutations was found to be 77.2%. The most frequently observed genotype was homozygous M694V mutation, which was present in 17 patients (29.8%, P <.001), followed by compound heterozygous M680I/ M694V (14.3%, P =.01). The R202Q allele frequencies were significantly different between patients and control group (P =.02; odds ratio, 0.53; 95% confidence interval, 0.30 to 0.94). Conclusions. In this study, mutation analysis of MEFV gene confirmed that the most frequent mutation was homozygous M694V genotype. R202Q may be important in patients with FMF-associated AA amyloidosis. Thus, it is suggested that investigation of R202Q should be considered as a genetic test for Turkish FMF patients

Clinical significance of NCOA5 gene rs2903908 polymorphism in Behçet`s disease

Behçet’s disease (BD) is an autoimmune multisystemic disease. The precise etiology of BD is not fully understood; however, it is thought that interactions between genetic and environmental factors play an essential role in its pathogenesis. The nuclear receptor coactivator-5 (NCOA5) gene encodes a coregulator for nuclear receptor sub- family 1 group D member 2 (NR1D2) and estrogen receptor 1 and 2 (ESR1 and ESR2). Also, the NCOA5 gene insufficiency leads to an elevated expression of IL-6, and increased levels of IL-6 were found to be related to the pathogenesis of BD. In this study, we aimed to clarify the impact of the NCOA5 rs2903908 polymorphism on susceptibility and clinical findings of BD. This study included 671 participants (300 BD patients and 371 healthy controls). The analyses of NCOA5 rs2903908 polymorphism was performed by using the TaqMan allelic discrim- ination assay. The frequency of TT genotype of the NCOA5 rs2903908 polymorphism was found significantly higher in BD patients compared to those in healthy controls (p=0.016, OR=1.46, 95 % CI=1.08–1.99). Also, the frequencies of CT genotype was observed significantly higher in BD patients with genital ulceration and uveitis than without genital ulceration and uveitis (p=0.002 and p=0.005, respectively). The most significant association was found between C allele frequencies of BD patients with and without uveitis (p=0.0001). Our study represents e first time that the NCOA5 rs2903908 polymorphism seemed to be linked to BD susceptibility and clinical findings

Relationship between major depressive disorder and ACE gene I/D polymorphism in a Turkish population

Background Major depressive disorder (MDD) is a complex disease and a significant health problem that is prevalent across the world. Angiotensin-converting enzyme (ACE) has an important role in renin-angiotensin system (RAS) and converts inactive angiotensin I to a potent vasopressor and aldosterone-stimulating peptide angiotensin II. Levels of ACE in plasma vary according to the insertion/deletion (I/D) polymorphism of ACE gene. Objective The aim of the current study was to examine the influence ACE gene I/D variations on the risk of MDD. Methods In the present case-control study, we analyzed ACE I/D polymorphism in 346 MDD patients and 210 healthy subjects using polymerase chain reaction technique. Results Comparing the two groups, no significant difference was observed with regard to either genotype distributions or allele frequencies of the I/D polymorphism of ACE gene. Discussion Our findings suggest that the ACE I/D polymorphism is not associated with MDD in Turkish case-control study. Further studies are still needed

The Effect of IL-4 Gene Polymorphism in Carpal Tunnel Syndrome

WOS: 000376567100013Aim: Carpal tunnel syndrome (CTS) is a neurological disorder characterized by paresthesia and pain in the hands due to lesions and /or dysfunction of the median nerve at the wrist. The exact pathogenesis of CTS is not clear. Genetic factors may play a role in CTS susceptibility. Biochemical mediators such as cytokines may have a role in carpal tunnel mediated neuropathy. The aim of the present study was to analyse the association of IL-4 VNTR polymorphism with CTS susceptibility and disease progression in patients with CTS in a Turkish population. Material and Method: The study included 155 patients with CTS and 140 healthy controls. Genomic DNA was isolated and genotyped using polymerase chain reaction (PCR) for the IL-4 gene 70 bp VNTR polymorphisms. Results: There was no statistically significant difference between the groups with respect to IL-4 genotype distribution (p>0.05). The P1 allele was significantly higher in CTS patients than in healthy controls (p 0.05). Discussion: Our findings indicate that the IL-4 70 bp VNTR polymorphism is not a relevant CTS marker and that the P1 allele may be related to CTS in a Turkish population. Further research with larger patient populations is necessary to ascertain the implications of IL-4 and anti-inflammatory cytokines polymorphisms in CTS

Karpal Tünel Sendromunda IL-4 Gen Polimorfizminin Etkisi

Amaç: Karpal tünel sendromu el bileğinde medyan sinirin disfonksiyonu ve/veya lezyonları nedeniyle elde uyuşma ve ağrı ile karakterize nörolojik bir hastalıktır. KTS'nin patogenezi tam olarak açık olmamakla birlikte, genetik faktörler KTS'ye yatkınlıkta rol oynayabilmektedir. Sitokinler gibi biyokimyasal faktörler KTS'nin neden olduğu nöropatide rol alabilmektedir. Bu çalışmanın amacı bir Türk populasyonunda KTS yatkınlığı ile IL-4 VNTR polimorfizmi arasındaki ilişkileri ve IL-4 VNTR polimorfizminin KTS'li hastalarda hastalığın gelişimi üzerine etkilerini incelemektir. Gereç ve Yntem: Çalışmaya KTS'li 155 hasta ve 140 sağlıklı kontrol dâhil edilmiştir. Hasta ve kontrollerin genomik DNA'lar izole edilmiş ve IL-4 geni 70 bç'lik VNTR polimorfizmleri polimeraz zincir reaksiyonu kullanılarak genotiplenmiştir. Bulgular: Hasta ve kontrol grupları arasında IL-4 genotip dağılımı açısından istatistiksel olarak anlamlı bir fark bulunmamaktadır (p>0.05). Ancak, P1 allelinin KTS'li hastalarda sağlıklı kontrollere göre anlamlı derecede fazla olduğu saptanmıştır (p0.05). The P1 allele was significantly higher in CTS patients than in healthy controls (p0.05). Discussion: Our findings indicate that the IL-4 70 bp VNTR polymorphism is not a relevant CTS marker and that the P1 allele may be related to CTS in a Turkish population. Further research with larger patient populations is necessary to ascertain the implications of IL-4 and anti-inflammatory cytokines polymorphisms in CTS

Distribution of the 23-bp polymorphism of the prion protein gene in Jersey cattles in Turkey

Background: Bovine spongiform encephalopathy (BSE) is a prion disease that is always fatal in cattle and is considered an important risk factor for human health. Genetic polymorphisms that alter prion proteins may be associated with susceptibility or resistance to infectious spongiform encephalopathy. Therefore, we investigated the distribution of the 23 bp indel variant in the prion protein (PRNP) gene in Jersey cattle in Turkey. Methods: A total of 95 unrelated Jersey cattle (79 of reproductive age and 16 of non-reproductive age) from a private farm in Izmir were included in the study. Genomic DNA was obtained from the milk of reproductive-age cattle and the saliva of non-reproductive-age cattle. A 23-bp indel polymorphism in the PRNP gene promoter region was genotyped by polymerase chain reaction (PCR) analysis. Results: The three genotypes of the PRNP 23-bp indel variant were classified as follows: (223 bp), I/D (both 223 and 200 bp fragments), and D/D (200 bp). The frequencies of the I/I, I/D, and D/D genotypes of the PRNP 23-bp indel variant in cattle were 22 (23.16%), 48 (50.53%), and 25 (26.32%). We then examined genotype and allele distribution according to service period. No significant difference was detected in terms of PRNP gene 23 bp-indel variant genotype and allele distribution in the groups created according to the service period (p&gt;0.05). Conclusion: Although the PRNP gene 23 bp-indel variant genotype and allele distribution in jersey-type cattle in Turkey did not differ according to service period,  our results may benefit the understanding of the genetic characteristics of the PRNP gene in cattle breeds

MTHFR Gene C677T Mutation and ACE Gene I/D Polymorphism in Turkish Patients with Osteoarthritis

Osteoarthritis is a degenerative joint disorder resulting in destruction of articular cartilage, osteophyte formation, and subchondral bone sclerosis. In recent years, numerous genetic factors have been identified and implicated in osteoarthritis. The aim of the current study was to examine the influence of methylenetetrahydrofolate reductase (MTHFR) gene C677T mutation and angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) variations on the risk of osteoarthritis

Common Mediterranean Fever (MEFV) Gene Mutations Associated with Ankylosing Spondylitis in Turkish Population

Ankylosing spondylitis (AS) is a common inflammatory rheumatic disease. Mediterranean fever (MEFV) gene, which has already been identified as being responsible for familial Mediterranean fever (FMF), is also a suspicious gene for AS because of the clinical association of these two diseases. The aim of this study was to explore the frequency and clinical significance of MEFV gene mutations (M694V, M680I, V726A, E148Q and P369S) in a cohort of Turkish patients with AS. Genomic DNAs of 103 AS patients and 120 controls were isolated and genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods. There was a statistically significant difference of the MEFV gene mutation carrier rates between AS patients and healthy controls (p = 0.004, OR: 2.5, 95% CI: 1.32–4.76). This association was also observed in allele frequencies (p = 0.005, OR: 2.3, 95% CI: 1.27–4.2). A relatively higher frequency was observed for M694V mutation in AS patients than controls (10.7% versus 4.2% , p = 0.060). There were no significant differences between MEFV mutation carriers and non-carriers with respect to the clinical and demographic characteristics. The results of this study suggest that MEFV gene mutations are positively associated with a predisposition to develop AS