Aim: We aimed to investigate the association of eNOS gene with Glu298-Asp and T-786C polymorphisms with Coronary artery disease (CAD) and to contribute to the elucidation of the genetic factors ...involved in the development of CAD. Patients and Methods: A total of 200 patients were evaluated. Severe CAD was defined as ≥ 50% stenosis in at least one of major coronary arteries and these patients were taken into the CAD group (n=144). Patients without stenosis were included in the control group (n=66). Results: After the evaluation of T-786C polymorphism, there was no significant dif-ference between TT (p=0,660), TC (p=0,73) and CC (p=0,634) genotypes between CAD and control groups. There was no significant difference between the groups in both dominant (p=0,439) and recessive (p=0,622) model comparisons. When Glu 298-Asp polymorphism was examined, there was no statistically significant difference between GG (p=0,836), GT (p=0,581) and TT (p=0,767) genotypes when the groups were compared according to genotype distributions. The groups were statistically similar according to both dominant (p=0,697) and recessive (p=0,485) model com-parisons.
Conclusion: There was no statistical correlation between T-786 C and Glu 298-Asp polymorphisms and CAD. Similar studies with larger study populations should be conducted to clarify the role of T-786 C and Glu 298-Asp polymorphisms.
Amaç: Bu çalışma ile eNOS geninin Glu298-Asp ve T-786C polimorfizmleri ile Koroner arter hastalığı (KAH) arasındaki ilişkisinin araştırılması ve KAH gelişmesinde rol oynayan genetik faktörlerin aydınlatılmasına katkıda bulunulması amaçlandı. Hastalar ve Yöntemler: Çalışmada toplam 200 hasta değerlendirildi. Ciddi KAH, majör koroner arterlerin en az birinde ≥%50 darlık olması olarak tanımlanmış ve bu hastalar KAH grubuna alındı (n=144). Stenozisi olmayan hastalar kontrol grubuna dahil edildi (n=66). Bulgular: T-786C polimorfizminin değerlendirilmesi sonucunda, KAH ve kontrol grupları karşılaştırıldığında TT (p=0,660), TC (p=0,73) ve CC (p=0,634) genotipleri arasında anlamlı fark saptanmamıştır. Her iki grupta da dominant (p=0,439) ve rese-sif (p=0,622) model karşılaştırmasında anlamlı fark yoktur. Glu 298-Asp polimorfizmi incelendiğinde; gruplar genotip dağılımlarına göre karşılaştırıldığında, GG (p=0,836), GT (p=0,581) ve TT (p=0,767) genotipleri arasında istatistiksel olarak anlamlı fark bulunmamıştır. Gruplar, hem dominant (p=0,697) hem de resesif (p=0,485) model karşılaştırmalarına göre istatistiksel açıdan benzer bulunmuştur.
Sonuç: Çalışma sonucunda, T-786 C ve Glu 298-Asp polimorfizmleri ve KAH arasında istatistiksel bir ilişki bulunmamıştır. T-786 C ve Glu 298-Asp polimorfizmlerinin rolünü açıklığa kavuşturmak için daha büyük çalışma popülasyonları ile benzer çalışmalar yapılmalıdır.
Objective: Estrogen receptor 1 (ESR1) polymorphisms are associated with Alzheimer's disease (AD) and polymorphisms in the first intronic region of the gene are known to affect ESR1 mRNA ...transcription. The first intronic region of the ESR1 contains two polymorphisms that have received the most attention: PvuII rs2234693 (NM 000125.3: c.453-397T>C) and XbaI rs9340799 (NM 000125.3: c.453-351A>G). Both polymorphisms have been shown to be associated with AD, but consistent findings across populations have not been established. This study aimed to determine whether ESR1 PvuII and XbaI polymorphisms are associated with the disease in a cohort of Turkish AD patients. Whether PvuII and XbaI polymorphisms affect disease susceptibility by influencing ESR1 mRNA expression was also examined. Materials and Methods: Genotyping was performed in 424 patients with AD (mean age: 64.5 +- 11.1 yrs) and 302 controls (mean age: 56.4 +- 13.0 yrs). The polymerase chain reaction (PCR) and restriction enzyme digestion methods were used to determine the prevalence of the ESR1 PvuII and XbaI polymorphisms. The ESR1 mRNA expression was analyzed in the peripheral blood cells of 85 patients and 53 age-matched controls using quantitative real-time PCR. Results: No significant difference in genotype and allele frequencies of ESR1 PvuII and XbaI polymorphisms between the patients and controls was found. However, the frequencies of the PvuII C and XbaI G alleles were significantly higher in the patients with the apolipoprotein-E (APOE) ε4 allele. The ESR1 mRNA levels were significantly lower in the patients with AD compared with the controls (P = 0.001). The XbaI A allele was significantly associated with lower ESR1 mRNA levels (P = 0.044) and this association remained significant even after adjusting for confounders such as age, gender and APOE ε4 carrier status (P = 0.035). Conclusion: This study demonstrated that the distribution of PvuII and XbaI alleles is associated with the APOE ε4 allele. The XbaI polymorphism may be associated with a higher risk of AD by altering ESR1 mRNA levels.
Uridine diphosphate glucuronosyltransferase-2B7 (UGT2B7), enzyme responsible for the elimination of a number of xenobiotics through glucuronidation, is expressed in the gut, kidneys, intestines, and ...brain. However, data on the frequency of
polymorphisms in the Croatian population are limited. The aim of this study was to assess the frequency of the
(rs7668258) polymorphism in the Croatian population and to compare it with reported frequencies in other populations. This polymorphism is in complete linkage disequilibrium with the
c.
(
, rs7439366) variant, which is important in clinical medicine. The study reports data of 501 participants from University Hospital Centre Zagreb. All data were collected and analysed retrospectively. Genotyping was performed by real-time polymerase chain reaction (PCR) using the TaqMan
Drug Metabolism Genotyping Assay for
(rs7668258). We found that 120 (23.95 %) participants were carriers of the
.-
genotype and 255 (50.9 %) were heterozygous carriers (
.-
), while 126 (25.15 %) were homozygous carriers of the variant allele (
.-
). The frequency of the variant
.-
allele in this study was T=0.506. The frequency of the
.-
allelic variants and genotypes in the Croatian population is similar to other European populations.
Abstract
Objectives
The PI3K (Phosphatidylinositol 3-kinase) is the member of lipid kinase family that plays important roles in tumorigenesis, cancer development and cell proliferation. In our study, ...we aimed to investigate the relationships between breast cancer risk and prognosis with
PIK3CA
rs6443624 (C>A) intron region gene polymorphism and serum PI3K levels.
Methods
A total of 61-patients with breast cancer and 101 controls were included to the study.
PIK3CA
polymorphism was detected by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) technique. Serum PI3K levels were measured by Enzyme-Linked Immuno Sorbent Assay (ELISA).
Results
PIK3CA
(C>A) gene polymorphism genotype and allele distributions were no significant in cases and controls (p>0.05). The serum PI3K levels of breast cancer patients were found significantly higher than the control groups (p=0.033). There were not significant association between
PIK3CA
(C>A) gene polymorphism and clinic and prognostic parameters in our study group. We also evaluated serum PI3K levels in the term of tumor progression, but we did not observe any significant data.
Conclusions
We suggest that serum PI3K levels may play role in breast cancer risk and larger patient groups may have clinical value in assessment of the genetic risk and tumor progression of breast cancer.
Amaç: Lipid metabolizması üzerinden obezite ve metabolik sendromla ilişkisi olabileceğini düşündüğümüz ACSL4 geninin sık görülen rs7886473 A>G polimorfizminin Türk toplumunda metabolik sendrom ve ...lipid düzeyleri üzerindeki etkisini araştırmayı amaçladık.
Gereç ve Yöntem: Çalışmamıza, Türkiye genelinde takip edilen ve modifiye edilmiş NCEP ATPIII Metabolik Sendrom tanı kriterlerine göre 556 metabolik sendrom olan ve 520 metabolik sendrom olmayan erişkin birey dahil edildi. Metabolik sendrom olan ve olmayan bireylerin ACSL4 gen polimorfizmi Roche Light Cycler 480 Real-Time PCR ile genotiplendi ve karşılaştırıldı.
Bulgular: Metabolik sendrom olan ve metabolik sendrom olmayan bireyler arasında ACSL4 rs7886473 genotip dağılımları arasında anlamlı bir farklılık bulunmadı. Tüm erkeklerin ACSL4 rs7886473 polimorfizmine göre serum total kolesterol, HDL, LDL ve trigliserid düzeyleri karşılaştırıldığında; GG ve AA genotipleri arasında anlamlı bir farklılık bulunmadı. Benzer şekilde tüm kadınlarda da anlamlı farklılık bulunmadı.
Sonuç: Bu çalışma, ACSL4 geni açısından incelemiş olduğumuz rs7886473 gen polimorfizminin metabolik sendrom ve serum lipid düzeyleri üzerine etkisi olmadığını gösterdi. Ancak çalışmamızda incelenmiş olan ACSL4 geninde yaygın görülen yalnızca bir polimorfizmdir. Bu durum ACSL4 geninin lipid metabolizması ve/veya metabolik sendrom üzerine etkili olmadığını değerlendirmek için tek başına yeterli değildir.
Abstract
Objectives
There are several hypotheses on the effects of the rs1738074 T/C single nucleotide polymorphism in the
TAGAP
gene; however, there has been no study on Turkish pediatric patients. ...We aimed to investigate the association of celiac disease (CD) and type 1 diabetes mellitus (T1DM) comorbidity with the polymorphism in the
TAGAP
gene of Turkish pediatric patients.
Methods
Totally, 127 pediatric CD patients and 100 healthy children were included. We determined the polymorphism by the allele-specific polymerase chain reaction method. We used IBM SPSS Statistics version 25.0 and Arlequin 3.5.2 for the statistical analyses. The authors have no conflict of interest.
Results
It was determined that 72% (n=154) of only CD patients had C allele, whereas 28% (n=60) had T allele. Of the patients with celiac and T1DM, 42.5% (n=17) and 57.5% (n=23) had T and C alleles, respectively. Of the individuals in control group, 67% (n=134) had C allele, whereas 33% (n=66) had T allele.
Conclusions
There was no significant difference in the genotype and allele frequencies between the patient and control groups (p>0.05). There was no significant association between the disease risk and the polymorphism in our study group.
The aim of this study was to determine the influence of
,
, and
genetic polymorphisms on methadone metabolism in patients with hepatitis C virus (HCV) undergoing methadone maintenance treatment ...(MMT). The study included 35 participants undergoing MMT, who were divided in three groups: HCV-positive (N=12), HCV-negative (N=16), and HCV clinical remission (CR) (N=7). The concentrations of methadone and its main metabolite 2-ethylidene-1,5-dimethyl-3,3-diphenylpyrrolidine (EDDP) were determined with gas chromatography-mass spectrometry. The patients were genotyped for
rs1045642,
rs3745274,
rs2242480, and
rs2740574 polymorphisms. Differences between single nucleotide polymorphism (SNP) genotypes and methadone-to-EDDP ratio were analysed with one-way ANOVA, which showed no significant difference between the genes (
=0.3772 for
rs1045642,
=0.6909 for
rs3745274, and
=0.6533 for
rs2242480). None of the four analysed SNP genotypes correlated with methadone-to-EDDP concentration ratio. A major influence on it in hepatitis C-positive patients turned out to be the stage of liver damage.
IVSII-74 T>G: As harmless as we thought? Hocaoglu-Emre, F. Sinem; Yenmis, Guven; Saribal, Devrim ...
Turkish Journal of Biochemistry,
03/2019, Letnik:
44, Številka:
1
Journal Article
Recenzirano
Odprti dostop
Abstract
Background
IVSII-74 T > G is one of the most frequently identified polymorphic sites on the β-globin gene. In our report, we present three cases with low mean corpuscular volume (MCV) value ...in three and high red blood cell (RBC) value in two of the cases. The objective of this study was to further analyse the reason for condition of three patients, who were referred for the investigation of persistent anemia.
Materials and Methods
Following the HPLC analyses of Hb migration pattern, direct nucleotide sequencing of α- and β-globin genes was performed for all cases.
Results
The common finding was the homozygosity for the intronic change, IVSII-74 T > G.
Conclusion
In the intersection point of the variations on our patients, we claim a homozygous change at position 74 on the intron II of the β-globin gene alone may be sufficient to cause a β-thalassemia carrier phenotype.
Objective: Leptin (LEP) is a metabolic and neuroendocrine hormone which is present in the circulation in amounts proportional to fat mass that acts to reduce food intake and increase energy ...expenditure thereby regulating body weight homeostasis. Various polymorphisms are shown to be present in LEP gene which play important roles in obesity and obesity-related metabolic biomarkers. The aim of this study was to investigate the association of one of these polymorphisms, leptin gene G-2548A polymorphism, on obesity in association with body mass index (BMI), lipid parameters, plasma leptin levels and homeostasis model assessment of insulin resistance (HOMA-IR).
Methods: The study included 110 obese and 90 non-obese subjects. The LEP G-2548A polymorphism was determined by polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP). Plasma leptin levels, serum lipid and antropometric parameters were measured.
Results: No association was found between LEP gene G-2548A polymorphism and BMI in both study and control groups. Strikingly study group with obese subjects and with the AA genotype had significantly higher serum total cholesterol (p<0.05) than GA and GG genotypes. In obese group, subjects with the AA genotypes had significantly higher leptin (p<0.05) levels than the GG and GA genotypes.
Conclusion: Our results suggest that the LEP gene G-2548A polymorphism may not be considered as a genetic risk factor for obesity in Turkish Cypriot population. However, the G-2548A polymorphism appear to be important in regulating leptin and total cholesterol levels in obese group through leptin gene expression and signaling.
ÖzetAmaç. Plazminojen aktivatör İnhibitörü Tip 1 (PAI-1) bir serin proteaz inhibitörüdür. Doku plazminojen aktivatörü (tPA) ve ürokinazı (uPA), sonuç olarak fibrinolizi inhibe eder. Genin promotor ...bölgesinde 4G/5G olarak bilinen bir polimorfizm söz konusudur. Trombozdaki rolü nedeniyle PAI-1 4G/4G polimorfizminin gebelik komplikasyonlarına katkısı olabileceği düşünülmektedir. Biz bu çalışmada, PAI-1 4G/4G polimorfizminin gebelik kayıplarına olası etkisini değerlendirmeyi amaçladık. Yöntem. Çalışma grubu Sivas bölgesinde yaşayan bireylerden seçildi. Araştırmaya 92’si bir veya daha fazla düşük öyküsü olan ve 86 kontrol olmak üzere toplam 178 kadın dahil edildi. Gen mutasyonlarını belirlemek için periferik kan örneklerinden DNA izolasyonu ve sonrasında revers hibridizasyon ilkesine dayanan strip assay tekniği ile mutasyon analizi yapıldı. Veriler SPSS 15,0 istatistik programı aracılığıyla değerlendirildi. Bulgular. Kontrol grubunda 5G/5G polimorfizmi 22 (%25,6), 4G/5G polimorfizmi 53 (%61,6) ve 4G/4G mutant olgular 11 (%12,8) olarak tespit edilmiştir. Düşük olgularında ise 5G/5G polimorfizmi 20 (%21,7), 4G/5G polimorfizmi 49 (53,3) ve 4G/4G mutant olgular ise 23 (%25) bulunmuştur. 4G/4G homozigot mutant olgular için ODDS değeri hesaplanmıştır. Sonuç. Bulgularımıza göre 5G/5G ve 4G/5G polimorfizmleri düşük açısından risk artışı sağlamamaktadır (p=0,546 ve p=0,259 p>0,05). Çalışmamızda PAI-1 4G/4G polimorfizminin düşük riskine katkısı anlamlı bulunmuştur. Bu polimorfizme sahip kadınlarda düşük yapma riski 2,27 kat daha fazladır (p=0,038 p<0,05).Anahtar sözcükler: PAI-1, 4G/4G polimorfizmi, düşük AbstractAim. Plasminogen activator inhibitor type 1 (PAI-1) is a serine protease inhibitor. It inhibits tissue plasminogen activator (tPA) and urokinase (uPA), and consequently inhibits fibrinolysis. There is a common polymorphism known as 4G/5G in the promoter region of PAI-1 gene. PAI-1 4G/4G polymorphism may contribute pregnancy complications because of its role in thrombosis,. In this study, we aimed to evaluate the possible effect of PAI-1 4G/4G polymorphism to miscarriages. Method. The study group was selected between individuals residing in Sivas region. One hundred and seventy eight women (92 of them have miscarriage story and 86 control) were incorporated to study. After DNA isolation, mutation analysis was performed by StripAssay technique based on the reverse-hybridization principle. Data were analysed by SPSS 15.0 statistic program. Results. In control group, the number of 5G/5G polymorphisms was 22 (25.6%), the number of 4G/5G polymorphisms was 53 (61.6%) and the number of 4G/4G mutant cases was 11 (12.8%). In miscarriage gr ...
Aim. Plasminogen activator inhibitor type 1 (PAI-1) is a serine protease inhibitor. It inhibits tissue plasminogen activator (tPA) and urokinase (uPA), and consequently inhibits fibrinolysis. There is a common polymorphism known as 4G/5G in the promoter region of PAI-1 gene. PAI-1 4G/4G polymorphism may contribute pregnancy complications because of its role in thrombosis,. In this study, we aimed to evaluate the possible effect of PAI-1 4G/4G polymorphism to miscarriages. Method. The study group was selected between individuals residing in Sivas region. One hundred and seventy eight women (92 of them have miscarriage story and 86 control) were incorporated to study. After DNA isolation, mutation analysis was performed by StripAssay technique based on the reverse-hybridization principle. Data were analysed by SPSS 15.0 statistic program. Results. In control group, the number of 5G/5G polymorphisms was 22 (25.6%), the number of 4G/5G polymorphisms was 53 (61.6%) and the number of 4G/4G mutant cases was 11 (12.8%). In miscarriage group, the number of 5G/5G polymorphisms was 20 (21.7%), the number of 4G/5G polymorphisms was 49 (53.3%) and the number of 4G/4G mutant cases was 23 (25%). ODDS ratio was calculated for 4G/4G homozygot mutant cases. Conclusion. According to our datas, 5G/5G and 4G/5G polymorphism have not higher risk for miscarriage (p=0.546 and p=0.259 p>0.05). In our study, it was detected that the contribution of 4G/4G polymorphism to miscarriage is important. The women who have this polymorphism carry the risk of miscarriage higher 2.27 fold (p=0.038 p
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