Frequencies Of CT Genotypes Research Articles

VAV1 Gene Polymorphism is Associated With Kidney Allograft Rejection

VAV1 is an intracellular signal transduction protein that plays a significant role in signal transduction in T cells. Several studies suggest that VAV1 signaling plays significant roles in allograft rejection. The aim of this study was to examine the association between VAV1 gene polymorphisms and renal allograft function. The study included 270 patients after allograft renal transplantation. We examined the associations between VAV1 gene polymorphisms and complications after transplantation, such as delayed graft function, acute rejection, and chronic allograft dysfunction. There were no statistically significant associations between VAV1 genotypes and delayed graft function and chronic allograft dysfunction. Among patients with acute allograft rejection, we observed decreased frequencies of VAV1 rs2546133 TT and CT genotypes (P=.03) and T allele (P=.02), as well as VAV1 rs2617822 GG and AG genotypes (P=.05) and G allele (P=0.04). In the multivariate regression analysis, the higher number of VAV1 rs2546133 T alleles showed a protective effect against the acute rejection in kidney allograft recipients. The results of our study suggest that polymorphisms in the VAV1 gene are associated with kidney allograft rejection.

Association of central serous chorioretinopathy with single nucleotide polymorphisms in complement factor H gene in Iranian population.

To investigate the association of two different single nucleotide polymorphisms (SNPs) in the complement factor H (CFH) gene with central serous chorioretinopathy (CSCR) in the Iranian population. This is a case-control study with 95 participants in each group who were stratified according to their various ethnical variations. Primers for rs1329428 and rs3753394 polymorphisms were synthesized. DNA was extracted from peripheral blood leukocytes and underwent PCR and high-resolution melt analysis. The frequency of tt, ct, and cc genotypes for rs1329428 polymorphism was 22 (26.5%), 46 (55.4%), and 15 (18.1%) in acute CSCR and 5 (41.7%), 5 (41.7%), and 2 (16.7%) in chronic CSCR respectively with no significant difference between case and control groups. The frequency of tt, ct, and cc genotypes for rs3753394 polymorphism was 31 (37.3%), 14 (16.9%), and 38 (45.8%) in acute CSCR and 4 (33.3%), 3 (25%), and 5 (41.7%) in chronic CSCR respectively. There was a significant difference between patients of Persian descent and controls in rs3753394 polymorphism (P = 0.00, chi-square test). There was no statistical difference in the frequency of polymorphism between acute and chronic patients (P = 0.64 and P = 0.79 respectively, chi-square test). The rs3753394 polymorphism is probably associated with CSCR in Persian ethnicity. Further studies are required to validate the implications of this finding in clinical practice.

The association between tri-nucleotide-repeat containing 9 (TNRC9) /LOC643714 genetic variations and breast cancer in Egyptian females

ObjectiveTo define the association of TNRC9 rs3803662 and LOC643714 rs12922061 with risk of breast cancer in Egyptian females and to correlate them with clinico-pathological features and survival in patients. BackgroundBreast cancer is a complex polygenic disease in which genetic factors play a role in its etiology and pathologic process. The TNRC9/ LOC643714 locus on chromosome 16q12 was one among the chief breast cancer regions known through genome-wide association study. Subjects and methodsThis study included seventy-five subjects (fifty breast cancer patients and twenty-five healthy controls). ELISA-based assay of tumor markers (CEA and CA15-3) and genotyping of TNRC9 rs3803662 and LOC643714 rs12922061 by real time-PCR were applied. ResultsSignificant higher frequencies of the LOC643714 rs12922061 CT genotype and T allele were observed in breast cancer patients (p = 0.016, OR (95%CI); 4.114 (1.30–13.0) and (p = 0.044, OR (95%CI); 2.347(1.02–5.39) respectively. This significant difference was also observed under a dominant model (CC vs CT + TT OR 3.551; 95%CI 1.26–10.02; p = 0.017) and Over-dominant model (CT vs CC + TT OR 3.692; 95%CI:1.19–11.39; p = 0.023). Regards rs12922061 genotype distribution, there was significant difference regards menopausal state under the dominant model (p = 0.044) and there was significant difference as regards nodal stage under both the dominant model (p = 0.049) and over dominant model (p = 0.028). No remarkable association was found between the rs3803662 polymorphism and breast cancer patients. There was no noteworthy relationship between overall survival in breast cancer patients and the genotype distribution of both SNPs LOC643714 (rs12922061) and TNRC9 (rs3803662). ConclusionWhile there was no important association regarding the TNRC9 rs3803662, our study found that rs12922061 of LOC643714 was related to breast cancer risk. Moreover, the rs12922061 is related to the menopausal state and nodal stage.

Role of Antioxidant Gene Polymorphisms in Risk and Prognosis of Chronic Myeloid Leukemia

Introduction: We aimed to investigate the possible role of antioxidant enzyme polymorphisms CAT -21A/T (rs7943316), CAT -262C/T (rs1001179), GPX1 -198C/T (rs1050450), MPO -463G/A (rs2333227), GSTM1 (rs366631) & GSTT1 (rs17856199) with susceptibility to chronic myeloid leukemia (CML) and their association with tyrosine kinase inhibitor (TKI, imatinib) response.Methods: Six single nucleotide polymorphisms (SNPs) in antioxidant enzyme genes were genotyped in a total of 325 samples, of which 125 were from CML patients and 200 from healthy controls. The SNPs were correlated with various confounding variables lke BCR-ABL1 levels and tyrosine kinase domain mutation status in CML patients.Results: Genotyping results revealed statistically significant associations with CAT -21A/T (p=0.037) and GPX1 -198C/T (p=<0.0001) polymorphisms with risk of CML. No associations were observed between CAT -262C/T, MPO -463G/A, GSTM1 & GSTT1 polymorphisms and CML. The CAT -21A/T polymorphism conferred 2.95 folds increased risk of CML under co-dominant model (p=0.024) and 2.51 folds risk under dominant models (p=0.05). In addition, the haplotypes of CAT -21A/T and -262C/T polymorphisms, ATCC and ATCT conferred higher incidence of CML risk by 2.67 times (p=0.05) and 2.99 times (p=0.045). The GPX1 -198C/T polymorphism conferred significantly increased risk of CML under co-dominant model [CC vs CT (p=<0.0001), CC vs TT (p=<0.0001)] and dominant models [CC vs CT+TT (p=<0.0001)]. The heterozygous GPX1 CT genotype frequency significantly elevated in poor molecular responders (p=0.005) and TKD mutation carriers (p=0.114) as compared to respective groups.Conclusions: Our results suggest that the reduced activity of antioxidant enzymes caused by the CAT -21A/T and GPX1-198C/T polymorphisms might contribute to increased risk of CML. In addition, the GPX1-198C/T polymorphism was associated with poor molecular response and acquired TKD mutations. Hence, the present study indicates that defective antioxidant defense system might have a strong influence on CML susceptibility and TKI (imatinib) response through oxidative stress.

The Effects of Three ABCG2 Polymorphisms on Outcome of Central Nervous System Relapses in Iranian Children With Acute Lymphoblastic Leukemia Receiving High Dose Methotrexate

Methotrexate (MTX) is the main drug for the treatment of childhood acute lymphoblastic leukemia (ALL). ABCG2 pump is the main transporter of MTX on BBB. Our aim was to investigate the possible relationship between three polymorphisms of the ABCG2 gene, and isolated CNS relapses in Iranian children with ALL receiving high dose MTX. Genotyping of three polymorphisms of the ABCG2 gene, including G34A, C376T, and C421A, was performed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method for 56 patients. A high frequency of C376T CT genotype was observed among the patients. There was no significant association between C376T and C421 and isolated CNS relapse (P>0.05). C376T and C421A polymorphisms are not associated with isolated CNS relapse in childhood ALL.

How matrix metalloproteinase (MMP)-9 (rs3918242) polymorphism affects MMP-9 serum concentration and associates with autism spectrum disorders: A case-control study in Iranian population

The aim of this project was to evaluate the relationship of matrix metalloproteinase-9 (MMP-9) genetic variation and its serum concentration with autism spectrum disorder (ASD). One hundred ASD and 120 controls were enrolled in this study. Genomic DNA was extracted from blood and MMP-9 polymorphism was determined by polymerase chain reaction restriction fragment length polymorphism and serum levels were measured by enzyme-linked immunosorbent assay. The frequencies of CC, CT, and TT genotypes were 72%, 26%, and 2% in controls and 31%, 57%, and 12% in ASD, respectively. The frequencies of C and T alleles in ASD were 59.5% and 40.5%, and controls were 86% and 14%, respectively. There is a significant increase in serum MMP-9 levels in ASD as compared to controls. We have also shown that TT genotype is significantly associated with increase serum MMP-9 levels in patients (TT, CT, and CC serum levels were 91.77 ± 10.53, 70.66 ± 7.21, and 38.66 ± 5.52 and in controls were 55.55 ± 11.39, 42.66 ± 7.85, and 30.55 ± 6.34 ng/ml, respectively). It is concluded that there is a significant association between rs3918242 MMP-9 polymorphism and its serum concentration with autism. We also suggest that TT genotype is associated with increased MMP9 expression and may be a risk factor for ASD.

The role of FOXP3 rs3761548 and rs2294021 polymorphisms in pediatrics acute lymphoblastic leukemia: association with risk and response to therapy.

FOXP3 X-linked gene has crucial roles in the development and function of regulatory T cells. We investigated the association of FOXP3 rs3761548, rs3761549 and rs2294021 single nucleotide polymorphisms (SNPs) with acute lymphoblastic leukemia (ALL) susceptibility and response to therapy. Genotyping was performed in 247 patients and 210 healthy subjects. We observed a higher frequency of rs3761548 A carriers and rs2294021 C carriers (p < 0.04) in male patients, and lower frequencies of rs3761548 AC genotype (p = 0.04) and rs2294021 CT genotype (p = 0.01) in female patients compared to controls. ACC (p = 0.04) and ATC haplotypes (p = 0.002) were associated with susceptibility to ALL. There was a significant correlation between the genotypes of rs3761548 and rs2294021 SNPs with event-free survival (EFS) and overall survival (OS). The rs3761548 A genotype in male patients was associated with increased risk of relapse (p < 0.0001), shorter EFS, increased death rate (p = 0.002) and shorter OS compared to C genotype (p = 0.001). Similar significant results were observed for the relation of rs2294021 C genotype with response to therapy in male patients. In females, patients with rs3761548 AC genotype had longer EFS (p = 0.02) and those with rs2294021 CT had longer EFS and OS (p < 0.005). According to haplotype analysis, patients carrying ACC or ATC haplotypes had the highest number of WBCs and shorter EFS or OS, and patients with CCT haplotype had the lowest number of WBCs and longer EFS or OS. These results provided evidence for the impact of these polymorphisms on susceptibility and response to therapy in children with ALL.

Association analysis of ESR gene polymorphism and carcass traits in egg quails (Coturnix coturnix)

The polymorphism of estrogen receptor (ESR) gene was detected by PCR-RFLP in China yellow, Korean and Beijing white quails and the association between ESR gene polymorphism and carcass traits of egg quails was analyzed. The results showed that there were three genotypes including CC, CT and TT detected in exon 1 and exon 8 of ESR gene in egg quails. The frequencies of CC genotype in exon 1 of ESR gene were the highest in China yellow, Beijing white and Korean quail (0.515, 0.614, 0.723). The highest frequencies of TT genotype in exon 8 of ESR gene were detected in Beijing white and Korean quails (0.618 and 0.540), while the highest frequency of CT genotype was detected in China yellow quail (0.476). As demonstrated in this study, there were significant correlations between exon 1 of ESR gene and body weight, carcass weight, breast muscle weight, heart weight and percentage of leg muscles in egg quails (P&lt;0.05).

Correlation between ZBRK1/ZNF350 gene polymorphism and breast cancer

BackgroundThis study is to explore the relationship between the ZBRK1/ZNF350 (Zinc finger and BRCA1-interacting protein with KRAB domain-1; also known as zinc-finger protein 350) gene polymorphism and early-onset breast cancer.MethodsThe ZBRK1/ZNF350 gene exon detection analysis was performed with the direct sequencing and Snapshot methods in 80 cases of breast cancer (aged ≤ 40 years old) and 240 healthy subjects (aged ≤ 40 years old).ResultsTotally 9 sequence variants were detected, including 5 missense mutations and 4 synonymous mutations, located at EXON3, EXON4 and EXON5, respectively. The rs4987241 and rs3764538 variants were published for the first time, while the remaining variants had been reported before. There were significant differences in the frequency distribution of family history between the breast cancer and control groups. Moreover, there were significant differences in the CT genotype frequency at the rs138898320 locus between the breast cancer and healthy control groups. Compared with the carriers of CC wild genotype at rs138898320, the risk of breast cancer was reduced by 88.3% in the CT mutant genotype carriers, with significant difference. In the stratification with no family history, compared with the carriers of CC wild genotype at rs138898320, significant differences were observed for the CT mutant genotype carriers. In the stratification with family history, there was no significant difference in the variation of rs138898320.ConclusionThe rs138898320 CT mutation genotype of ZBRK1/ZNF350 may reduce the risk of breast cancer, and the protecting effect would be increased in the stratification with no family history.Trial registration Not applicable.

Associations of IL-1β and IL-6 gene polymorphisms with Parkinson's disease.

The aim of this study was to explore the associations of interleukin-1β (IL-1β) and IL-6 gene polymorphisms with the pathogenesis of Parkinson's disease. A total of 200 patients with Parkinson's disease in our hospital were collected as the disease group. Meanwhile, 200 healthy subjects were taken as the control group. Peripheral blood samples were drawn from all research subjects. The polymorphic regions of IL-1β and IL-6 were amplified via polymerase chain reaction (PCR). Moreover, the polymorphisms were detected and analyzed, followed by further analysis based on the changes in gene expressions and Hoehn-Yahr grade of patients. The allele distributions at IL-1β rs571556428 (p=0.015) and IL-6 rs543214973 (p=0.012) were statistically different between control group and disease group. In disease group, the G allele frequency at IL-1β rs571556428 and T allele frequency at IL-6 rs543214973 were significantly higher (p<0.05). Genotype distributions at IL-1β rs572292175 (p=0.017) and rs571556428 (p=0.000), and IL-6 rs543214973 (p=0.002) in disease group were also different from those in control group. In addition, the frequencies of CT genotype at IL-1β rs572292175, AA genotype at IL-1β rs571556428 and AA genotype at IL-6 rs543214973 in disease group were significantly lower (p<0.05). After modeling and analysis, it was found that the distribution of recessive model at IL-1β rs571556428 (p=0.012) and IL-6 rs543214973 (p=0.014) in disease group exhibited significant differences from those in control group. The frequencies of TA haplotype at IL-1β rs572292175 and rs571556428 (p=0.038) and GA haplotype at IL-6 rs1474348 and rs543214973 (p=0.047) in disease group were lower than those in control group (p<0.05). The polymorphisms at IL-1β rs571556428 and IL-6 rs1474348 were significantly associated with gene expression (p<0.05). Moreover, the expressions of IL-1β and IL-6 rose significantly in patients with GG genotype at rs571556428 and CG genotype at rs1474348, respectively (p<0.05). Furthermore, the polymorphism at IL-1β rs571556428 was significantly correlated with the grade of Parkinson's disease (p=0.000). Parkinson's disease was in a higher grade (grade 4-5) in patients with AA genotype, whereas in a lower grade (grade 1-2) in patients with GG and AG genotypes. IL-1β and IL-6 gene polymorphisms are significantly associated with the pathogenesis of Parkinson's disease.

Cytochrome P450 2A13 3375C&gt;T gene polymorphism in a Turkish population

Background and Aims: The polymorphisms in genes encoding xenobiotic-metabolizing enzymes may change the metabolic activation of various xenobiotics and therefore may affect individuals’ susceptibility to xenobiotics-induced toxic effects. Cytochrome P450 2A13 (CYP2A13) is an important CYP enzyme predominantly expressed in the human respiratory tract. CYP2A13 metabolizes the xenobiotics and bioactivation of several carcinogens. The present study aimed to determine the allele and genotype frequencies of CYP2A13 3375C&gt;T polymorphism in a Turkish population and also to compare the obtained results with those of various populations. Methods: CYP2A13 3375C&gt;T polymorphism was determined in 93 healthy Turkish individuals using the polymerase chain reaction-restriction fragment length method. Results: The frequencies of CC, CT and TT genotypes were 89.2%, 9.7% and 1.1%, respectively. The frequencies of C and T alleles were 94.1% and 5.9%, respectively. The genotype frequencies did not deviate from the Hardy-Weinberg equilibrium. Significant differences were observed when comparing the results found with those of various populations, especially those of populations with black ancestry (excluding Tunisian). Conclusion: This study can provide valuable data for further studies investigating the role of this polymorphism concerning the susceptibility to xenobiotics-induced toxic effects, including cancer, and may be used as a control group for such studies and also may contribute to toxicogenetic and epidemiological studies.

Association between Matrix Metalloproteinas-2 Gene Variants and Pathogenesis of Breast Cancer in Sera of Iraqi Women

Objective: The current study aims to investigate the role of MMP-2 in breast cancer pathogenesis in Iraqi women.&#x0D; Methods: A forty one women with breast cancer and 45 control women were included in this case-control study. Body mass index, age, smoking; married status, tumor size, degree, subtype, lymph node status, pre and postmenopesua included the phenotypic results. The polymerase chain reaction-PCR-allele specific restriction was used to observe the rs243865 polymorphism. Genomic DNA was extracted from whole blood and genotyping with specific prefixes for amplification of the MMP-2 gene was accomplished as enzyme-restricted PCR products were digested, followed by electrophoresis on 1.5% agarose gel. In order to interpret the researchers' results, numerous statistical analyses were applied.&#x0D; Results: The amplicon size of MMP-2 gene was 304 bp, and following its amplification reactions by allelic specific PCR. The amplification product for MMP-2 gene amplification SNP rs243865 gene polymorphism results exhibited one band of 304 bp, two bands of 304 bp and one band 304 bp for individuals have genotype as wild type (CC), homozygous (TT) and heterozygous (CT), respectively. Genotype frequencies of rs243865 polymorphism were found to be consistent with Hardy–Weinberg equilibrium. Allele frequencies of C allele was 0.57, and the T allele was only 0.43 in cases of breast cancer women patient, while the frequencies of CC, CT, and TT genotypes of the rs243865 SNP were statistically significant as 31.7%, 51.2%, 17.1% respectively. Allele frequencies of C and T were 0.78 and 0.22 for the control group, respectively, the heterozygous genotype (CT) was significantly increased the risk of breast cancer women (OR=0.3, 95% CI;0.12 – 0.8 , P≤ 0.05) with respect to those of the CC wild type. The TT genotype significantly raised the risk of breast cancer women by (OR = 0.2, 95% CI; 0.04 – 0.9, P≤ 0.05).&#x0D; Conclusion: In women with breast cancer, MMP-2 expression is highly association were observed with positive lymph node, histological classification of breast cancer (ll) higher than other classes, and advanced clinical process (ll).

Interleukin-4 and Interleukin-13 Gene Polymorphisms in Children With Idiopathic Nephrotic Syndrome.

Background: Idiopathic Nephrotic syndrome (INS) is an immune-mediated disease in which a number of cytokines, including IL-4 and IL-13, have been implicated in the pathogenesis. Cytokine gene polymorphisms might affect their levels and activity. Therefore, may affect INS susceptibility and response to treatment. The aim of the study was to determine the association of IL-4 and IL-13 gene polymorphisms and INS susceptibility and their effects on steroid responsiveness in children.Methods: The polymorphisms in IL-4 and IL-13 genes were detected by PCR-RFLP in 155 INS patients and 64 controls.Results: A total of 132 steroid-sensitive (SS) and 23 steroid resistance (SR) INS patients; mean age 7.3 ± 4.0 years, were included. Male: Female ratio was 2:1. No significant statistical differences were detected in the frequency of CC, CT, and TT genotypes of IL-4 gene compared to controls (P = 0.57, 0.61, and 1.00, respectively). There was no significant difference in the T and C-allele frequencies, in SS and SR subgroups. Analysis of IL-13 gene polymorphism also did not show significant statistical differences in the frequency of QQ, RQ, and RR genotypes compared to controls (P = 0.74, 1.00, and 0.68, respectively). No significant difference was found in the Q and R-allele frequency. However, the heterozygous RQ genotype of the IL13 gene was significantly higher in SS INS patients compared to the SR INS cases (P = 0.04).Conclusion: Our findings did not show an association between IL-4 and IL-13 gene polymorphisms and INS susceptibility. However, IL-13 RQ genotype was expressed more in children with INS who are steroid sensitive.

Single nucleotide polymorphism at cluster of differentiation 14 (CD14) gene and its association with fertility traits in crossbred cattle of Kerala

Cluster of differentiation 14 (CD14) gene is an important molecule for innate unity and found to be significantly associated with fertility traits in cattle. The objectives of present study were to detect the single nucleotide polymorphisms (SNPs) in exon 1 region of CD14 gene and to evaluate the association of genetic variants with fertility traits viz. Service period and Age at First Calving in crossbred cattle of Kerala. The study was conducted on two hundred and sixteen crossbred cattle maintained at various farms of Kerala Veterinary and Animal Sciences University. Genomic DNA was isolated and polymorphisms of gene were detected by Single Strand Confirmation Polymorphism. Two SNPs, c.445T>G and c.432C>T were detected in exon 1 coding region of CD14 gene. The frequencies of CC and CT genotypes were 0.82 and 0.18 in the population. In addition, a significant association between SNPs and service period was observed in crossbred cattle population under study. Crossbred cattle with CT diplo types showed lower values for service period than those with CC diplo types. The association of CD14 gene with these traits emphasizes the importance of bovine CD14 as a candidate gene for marker assisted selection for fertility traits in crossbred cattle

PNPLA3 and TM6SF2 polymorphisms in Brazilian patients with nonalcoholic fatty liver disease.

BACKGROUNDNonalcoholic fatty liver disease (NAFLD) is becoming the most common chronic liver disease worldwide, with significant morbidity associated with nonalcoholic steatohepatitis (NASH). Genome-wide association studies demonstrated that the variants rs738409 C/G in the PNPLA3 and rs58542926 C/T in the TM6SF2 genes are determinants of inter-individual and ethnicity-related differences in hepatic fat content and NAFLD progression.AIMTo investigate PNPLA3 and TM6SF2 genotype frequency and their association with NAFLD development and progression in Brazilian patients.METHODSThis cross-sectional case-control study enrolled 285 individuals from the Gastroenterology and Hepatology clinics at a university hospital in Brazil. The case patients (n = 148) were confirmed to have NAFLD by the identification of hepatic steatosis on ultrasonography and exclusion of other causes of liver disease. According to the clinical protocol, patients underwent liver biopsy when at high risk for NASH and/or advanced fibrosis (n = 65). Steatohepatitis was confirmed in 54 patients. Individuals who did not have biopsy indication or NASH on histology were considered to have simple steatosis (n = 94). The control group (n = 137) was selected among patients that attended the Intestinal Disease clinic and was composed of subjects without abnormalities on abdominal ultrasonography and normal liver biochemical tests. All individuals underwent PNPLA3 and TM6SF2 genotype analysis. RESULTSPNPLA3 CC, CG and GG genotype frequencies were 37%, 44% and 19%, respectively, in NAFLD patients and were 58%, 31% and 10% in controls (P < 0.001). In a model adjusted for gender, age, body mass index and type 2 diabetes mellitus, the G allele increased the chance of NAFLD (OR = 1.69, 95%CI: 1.21-2.36, P = 0.002) and NASH (OR = 3.50, 95%CI: 1.84-6.64, P < 0.001). The chance of NASH was even higher with GG homozygosis (OR = 5.53, 95%CI: 2.04-14.92, P = 0.001). No association was found between G allele and the features of metabolic syndrome. In histological assessment, PNPLA3 genotype was not associated with steatosis grade, although GG homozygosis increased the chance of significant NASH activity (OR = 17.11, 95%CI: 1.87-156.25, P = 0.01) and fibrosis (OR = 7.42, 95%CI: 1.55-34.47, P = 0.01) in the same adjusted model. TM6SF2 CC, CT and TT genotype frequencies were 83%, 15% and 0.7%, respectively, in NAFLD patients and were 84%, 16% and 0.7% in controls (P = 0.78). The T allele presence was not associated with NAFLD or NASH, and was not associated with histological features.CONCLUSIONPNPLA3 may be involved in susceptibility and progression of NAFLD and NASH in the Brazilian population. More advanced histological liver disease was associated with the G allele. The TM6SF2 genetic variants were not associated with NAFLD susceptibility and progressive histological forms in the population studied, but further studies are required to confirm these findings.

Association of NCF2, NCF4, and CYBA Gene Polymorphisms with Rheumatoid Arthritis in a Chinese Population.

Objective Recent studies have focused on the special roles of NADPH-oxidase in multiple autoimmune diseases. Nevertheless, the association of genetic variation in NADPH-oxidase genes with rheumatoid arthritis (RA) was not extensively studied in a Chinese population. We performed this study to examine the association of NCF2, NCF4, and CYBA gene polymorphisms with RA susceptibility in a Chinese population. Methods Six single nucleotide polymorphisms (SNPs) (NCF2 rs10911363, NCF4 rs1883112, rs4821544, rs729749, CYBA rs3794624, and rs4673) were genotyped in a cohort composed of 593 RA patients and 596 normal controls. Improved multiple ligase detection reaction (iMLDR) was used for genotyping. Results We observed that NCF4 rs4821544 CT genotype and C allele frequencies in RA patients were significantly decreased when compared to controls (CT vs. TT: P = 0.043; C vs. T: P = 0.031), and rs4821544 polymorphism was significantly associated with an increased RA risk under the dominant model (TT vs. CT+CC: P = 0.031). Our results also indicated that rs729749 CT genotype frequency was significantly lower in RA patients than that in controls (CT vs. CC: P = 0.033). Moreover, the rs729749 CT genotype frequency was also significantly decreased in RA patients in males (CT vs. CC: P = 0.024). No significant association between NCF2 and CYBA gene polymorphisms and RA susceptibility was observed. There were significant associations between rs4821544 TT genotype and T allele frequencies and anti-CCP in male RA patients. Conclusions In summary, NCF4 rs4821544 and rs729749 polymorphisms might contribute to RA susceptibility, while NCF2 and CYBA gene polymorphisms were not associated with RA susceptibility.

Polymorphism of MTHFR C677T Gene and the Associations with the Severity of Essential Hypertension in Northern Chinese Population.

Objective Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme of homocysteine metabolism and is closely related to the occurrence of hypertension. The aim of this study was to investigate the polymorphism of the (MTHFR) C677T and the factors influencing the severity of hypertension. Material and Methods. A total of 985 subjects were enrolled to analyze the polymorphisms of the MTHFR C677T gene by polymerase chain reaction (PCR). 306 people with essential hypertension were selected from 985 subjects to estimate the severity of hypertension by the ordinal multivariate logistical regression model. Results The frequencies of CC, CT, and TT genotypes were 19.5%, 49.95%, and 30.46%, respectively. The allelic frequency of mutant T was 55.43%. The plasma homocysteine level of the homozygous TT in individuals was significantly higher than in those with CC or CT (P < 0.01). MTHFR677CT genotype, MTHFR677TT genotype, smoking, family history of hypertension, Hcy, and triglycerides (TG) were independent risk factors for the severity of hypertension (OR = 2.29, 2.24, 2.04, 1.81, 1.04, 1.26). Conclusion MTHFR gene, smoking, family history of hypertension, Hcy, and triglycerides could be important genetic and high-risk factors of the development of severe hypertension in northern Chinese. These factors will contribute to the identification of high-risk populations of hypertension and facilitate the development of hypertension control strategies.

Study of the relationship between endothelial lipase gene polymorphism and serum levels of HDL-C, Apo A-I and severity of stenosis in non-diabetic coronary artery disease patients

BackgroundThe endothelial lipase (EL) gene is one of the most important genes in the metabolism of high-density lipoprotein cholesterol (HDL-C), and then it may be involved in the pathogenesis of coronary artery disease (CAD). The present study aimed to reveal the potential relationship between the EL 584C/T gene polymorphism and CAD severity, serum apolipoprotein A-I (Apo A-I), Apo B, and HDL-C levels in non-diabetic CAD patients. Methods248 subjects including 89 non-CAD controls and 159 non-diabetic CAD patients were included in the study. Blood sample was collected and used for genomic DNA extraction. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was carried out for genotyping of EL 584C/T. Serum levels of Apo A-I and Apo B were determined using the immunoturbidometric assay. The severity of coronary stenosis was determined using the Gensini score (GS). ResultsThe frequency of CC genotype was 52.9% and the frequency of CT and TT genotypes was 47.1% in non-CAD group. These frequencies were 59.6% and 40.4% in CAD group, respectively. There was no significant difference in the frequency of 584C/T polymorphism between CAD and non-CAD group. Moreover, the genotype and allele frequencies of the 584C/T polymorphism were not statistically different in subjects with different degrees of coronary stenosis. The serum level of Apo A-I was markedly increased in non-CAD group rather than CAD group. Those subjects with TT and CT genotypes had significantly higher levels of Apo A-I compared to those with CC genotype. ConclusionOur results showed that 584C/T polymorphism of the EL gene was not associated with the risk of CAD. However, subjects with TT and CT genotypes showed higher Apo A-I levels compared to subjects with CC genotype suggesting a possible role of these genotype in the pathogenesis of CAD.

Prodynorphin (PDYN) gene polymorphisms in Turkish patients with methamphetamine use disorder, changes in PDYN serum levels in withdrawal and the relationship between PDYN, temperament and depression

Aim of the study is to compare prodynorphin (PDYN) rs1997794, rs1022563, rs6045819, rs2235749 polymorphisms in individuals with methamphetamine use disorder (MD) to that of healthy controls (HC), and to investigate the differences in serum PDYN levels in methamphetamine withdrawal. It is also aimed to explore the temperament characteristics and depression and their relationship with PDYN polymorphisms and PDYN serum levels in MD group. PDYN gene and serum levels were studied in 134 patients with MD and 97 HC. Patients with MD were administered Beck Depression Inventory (BDI) and Temperament Evaluation of Memphis, Pisa, Paris and San Diego Autoquestionnaire (TEMPS-A). For rs1022563 polymorphism, TT and CT genotype frequency and T allele frequency were significantly higher in the MD group than the frequencies in HC. It was found that rs2235749 polymorphism AA genotype was associated with increased risk of MD. PDYN rs1997794 CT genotypes had significantly higher scores of TEMPS-A irritable than CC genotypes and PDYN rs1022563 CC genotypes had significantly higher scores of TEMPS-A irritable than TT genotypes. PDYN levels among persons with MD were significantly higher than among the HC group when the withdrawal level increased and withdrawal symptoms improved. During the period in which the withdrawal level increased, there was a negative correlation between PDYN level and BDI and a positive relationship between PDYN level and TEMPS-A hyperthymic. It may be beneficial to screen temperament characteristics associated with increased risk of addiction in patients with MD and develop interventions based on temperament characteristics and the effects of PDYN.

Association of TCF7L2 rs7903146 Polymorphism with the Risk of Type 2 Diabetes Mellitus (T2DM) Among Kurdish Population in Erbil Province, Iraq.

The genetic predispositions responsible for developing type 2 diabetes mellitus (T2DM) in the Middle East are poorly understood. The rs7903146 single nucleotide polymorphism (SNP) located in transcription factor 7-like-2 (TCF7L2) gene has been recognized to have a vital role in the development of T2DM disorder. The current study is the first to have researched the possible association between TCF7L2 rs7903146 SNP and T2DM among Kurdish population in Kurdistan region of Iraq. The study included 212 participants, half of them were T2DM patients, and the other half were disease-free and normoglycemic controls. Genotyping was performed by using a high throughput cost and time effective tetra-primer amplification refractory mutation system-polymerase chain reaction (Tetra ARMS-PCR) assay. The rs7903146 genotypic frequencies for CC, CT and TT were 24.5%, 69.8%, and 5.7% in T2DM group respectively, and for the controls were 45.3%, 50.9%, and 3.8% respectively. The frequency of CT genotype was found significantly higher in the cases when compared to the controls (OR = 2.53, 95% CI 1.40-4.57, P value < 0.0019), which indicated that the genotype CT showed risk with diabetes. The T allele showed a high significant frequency in the patients compared to the controls (OR = 1.65, 95% CI 1.10-2.47, P value = 0.014). Our findings demonstrated that the T allele could be a risk factor for increasing the susceptibility of T2DM incidence among the Iraqi Kurdish population.