Yazan: admin Tarih: Şub 5th, 2010 | Kategori::
Gene polymorphisms
Biochem Genet. 2010 Feb;48(1-2):104-12.
Senol Tuncay S, Okyay P, Bardakci F.
Department of Biology, Faculty of Arts and Sciences, Adnan Menderes University, Aydin, Turkey.
A polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay was used in a Turkish population to determine the frequency of polymorphisms of the nuclear factor-kappa (NF-kappaB1) and NF-kappaBIA genes, which have been shown to be related to several inflammatory diseases and cancer pathogenesis. Total genomic DNA was isolated from peripheral blood samples taken from 565 healthy volunteers living in Aydin Province. The genomic regions in question were amplified by PCR, and the polymorphisms in these regions were detected by a PCR-RFLP assay. The frequencies were 10.3% for the NF-kappaB1 -94ins/delATTG del/del genotype, 49.1% for del/ins, and 40.6% for ins/ins. The genotype frequencies of the NF-kappaBIA 3′UTR A –> G genotypes were A/A 19.2%, A/G 42.3%, and G/G 38.5%. Distribution of genotype frequencies was tested by Hardy-Weinberg; the NF-kappaB1 gene was in Hardy-Weinberg equilibrium (chi(2) = 3.402, P > 0.05), the NF-kappaBIA gene was not (chi(2) = 8.293, P < 0.05).
Yazan: admin Tarih: Şub 3rd, 2010 | Kategori::
Paraoxanase gene
Turk Kardiyol Dern Ars. 2009;37(7):473-478.
Taşkıran P, Cam SF, Sekuri C, Tüzün N, Alioğlu E, Altıntaş N, Berdeli A.
Department of Medical Biology and Genetics, Medicine Faculty of Celal Bayar University, Manisa, Turkey.
OBJECTIVES: Paraoxonase (PON1) is a high-density lipoprotein (HDL)-associated esterase that hydrolyses lipoperoxides. PON1 serves as a protective factor against oxidative modification of LDL, suggesting that it may play an important role in the prevention of atherosclerotic process. Research has focused on two polymorphisms: leucine (L allele) to methionine (M allele) substitution at codon 55, and glutamine (A allele) to arginine (B allele) substitution at codon 192. STUDY DESIGN: We examined amino acid changes at codon 55 and 192 in the PON1 gene by polymerase chain reaction and using restriction enzymes in 120 patients (92 men, 28 women; mean age 48.2+/-4.3 years) with premature coronary artery disease (CAD) and in 102 healthy subjects (80 men, 22 women; mean age 46.8+/-5.2 years) with no history of CAD and a normal electrocardiogram. RESULTS: Distribution of genotypes in the patient and control groups at codon 55 were 6.7% and 4.9% for MM, 46.7% and 29.4% for LM, 46.7% and 65.7% for LL, respectively. The frequency of genotypes at codon 192 were as follows: 4.2% and 2% for RR, 40% and 35.3% for QR, and 55.8% and 62.8% for QQ, respectively. While the frequency of PON1 55M allele was higher in the CAD group (0.3 vs. 0.2), PON1 192R allele frequency did not differ (p>0.05). There was a significant relationship between the PON1 M/L55 polymorphism and CAD (p=0.017), whereas the R/Q192 polymorphism was not associated with CAD (p=0.445). CONCLUSION: These data suggest that the PON1 M/L55 polymorphism shows a significant relationship with CAD and the Q/R192 polymorphism is not a major risk factor causing susceptibility to CAD in our population.
Yazan: admin Tarih: Ağu 24th, 2009 | Kategori::
Cancer (Kanser)
Clin Exp Rheumatol. 2009 Mar-Apr;27(2):340-3. Links
Turanli ET, Beger T, Erdincler D, Curgunlu A, Karaman S, Karaca E, Dasdemir S, Bolayirli M, Yazici H.
Department of Molecular Biology and Genetics, and 2Molecular Biology and Biotechnology Research Center, Istanbul Technical University, Istanbul, Turkey. turanlie@itu.edu.tr
OBJECTIVES: To analyse the most common MEFV (Mediterranean fever gene) mutations and polymorphisms in an elderly population free of chronic inflammatory disease (n=164), and explore possible associations between hsCRP (high sensitive C-reactive protein) and RF (rheumatoid factor) levels with MEFV mutations and polymorphisms. METHODS: An elderly group free of chronic inflammatory disease was chosen among the outpatients of the division of geriatric medicine. Total genomic DNA was isolated from blood, and PCR-RFLP analysis was performed using established protocols. Sera were analyzed for hsCRP and RF levels. RESULTS: The frequencies for 694V (1.8%), 694I (1.8%), 680I (0.6%), 726A (2.1%) and 148Q (5%) alleles were found to be similar to Turkish historic controls, with a carrier frequency of 1/4. Further analyses with rheumatoid factor (RF) levels and mutations revealed a significant association between the presence of the E148Q polymorphism with increased RF levels (>15 mg/dl) (xi2= 7.358, p=0.007, OR=5.41 95% CI 1.41-20.64). CONCLUSIONS: Common MEFV mutations and polymorphisms were similarly represented among the elderly population compared to historic controls. On the other hand, a significant association was found between the presence of E148Q polymorphism and increased RF levels. This suggests that the previously noted increased RF levels in elderly populations may somehow be related to the now described association of RF with MEFV E148Q polymorphism.
Yazan: admin Tarih: Ağu 24th, 2009 | Kategori::
Gene polymorphisms
Yilmaz A, Kaya MG, Merdanoglu U, Ergun MA, Cengel A, Menevse S.
Department of Medical Biology and Genetics, Faculty of Medicine, Gazi University, Besevler, Ankara, 06510, Turkey. akinyilmaz@gazi.edu.tr
Both beta(1)- and beta2-adrenergic receptors (beta(1)- and beta(2)-AR) have important roles in heart function mainly in response to catecholamines. Some specific polymorphisms in the beta(1)- and beta(2)-AR genes, named ADRB1 and ADRB2, respectively, have been implicated in several cardiovascular and noncardiovascular phenotypes. In this study, we aimed to investigate the possible relationship between Ser49Gly and Arg389Gly polymorphisms of the ADRB1 and Arg16Gly and Gln27Glu polymorphisms of the ADRB2 gene with ST elevation myocardial infarction (MI) in a Turkish population. One hundred patients with ST elevation MI and 100 healthy control subjects were genotyped using the PCR-RFLP method. Although the Arg389 allele of the ADRB1 gene was associated with an elevated risk of MI, the Glu27 allele of the ADRB2 gene was associated with a decreased risk of MI. Carriers of the ADRB1 Arg389 allele (heterozygotes+homozygotes) had an approximately 3.5-fold increased risk for MI than Gly389 homozygotes (OR=3.59, 95% CI=0.96-13.47, P=0.045). For the ADRB2 Gln27Glu polymorphism, subjects having one or two copies of the Glu27 allele showed a decreased risk of MI compared with Gln27 homozygote subjects (OR=0.48, 95% CI=0.24-0.94, P=0.03). Haplotype analysis of these polymorphisms showed no significant differences between groups. These results suggest that the Arg389Gly and Gln27Glu polymorphisms may be associated with an altered risk of MI in this Turkish population.
