Frequency Of CC Genotype Research Articles

GENE POLYMORPHISM AMONG RESIDENTS OF TERNOPIL REGION AFFLICTED WITH ESSENTIAL ARTERIAL HYPERTENSION

Relevance. Dissensions in genotype distribution may substantively vary among different ethnic groups; that is why association of particular polymorphous markers with arterial hypertension (AH) development not always matches among distinct populations, which makes researches significant for every ethnic and population group.
 Objective is to study prevalence of polymorphism of A1166C-gene of angiotensin II receptor of the first type and T786C-promoter of endothelial NO-synthase gene among patients with arterial hypertension, residents of Ternopil region.
 Material and methods. We have examined 86 patients with arterial hypertension who were treated and examined in the therapeutic department of the Central District Hospital in Kozova, aged from 45 to 76 years. The control group consisted of 30 healthy individuals. Genetic typing of endothelial NOS genes and angiotensin II receptors (type 1) genes was performed by means of polymerase chain reaction with electrophoretic scheme of result detection.
 Results. When analyzing the frequency distribution of genotypes of polymorphism A1166C of the angiotensin II receptor gene type 1, it was found that the proportion of CC genotype in patients with stage 3 hypertension was 61.1%, which is probably more than in the control group – 16.6% (χ² = 10, 0, p = 0.002). Among patients with stage 2 hypertension, the frequency of AA genotype A1166C polymorphism of the angiotensin II type 1 receptor gene was lower than in the control group (19.1% vs. 43.3%, χ² = 5.2, p = 0.02), and among patients with stage 3 hypertension, the number of individuals with the AA genotype was 11.1% versus 43.3% in the control group (χ² = 5.43, p = 0.02). Analysis of the T-786C polymorphism of the eNOS gene promoter revealed that in patients with stage 2 hypertension, the frequency of pathological CC genotype was higher than in the control group (38.3% vs. 16.6%, χ² = 4.09, p = 0.04 ), patients with stage 3 hypertension also had a greater number of carriers of the CC genotype than in the control group (44.4% vs. 16.6%, χ² = 4.4, p = 0.03).
 Conclusions. Results of the research have shown that polymorphism of the type 1 angiotensin II receptors’ A1166C gene and of the eNOS gene T786C-promotor are associated with development of arterial hypertension.

Research on the relationship between V444A mutation of ABCB11 gene and primary intrahepatic stone

Objective: To investigate the relationship between V444A mutation of the ABCB11 gene and primary intrahepatic stone (PIS). Methods: A total of 164 patients (including 91 males and 73 females, with an average age of (46.0±13.0) years) with PIS and 164 healthy (including 99 males and 65 females, with an average age of (43.8±16.7) years) volunteers were enrolled in this case-control study between October 2017 and June 2019. TaqMan-MGB was used for detecting the V444A polymorphism site of the ABCB11 gene. All the genotypes and allele frequencies were calculated. Pearson chi-squared test was performed to detect the differences in allele and genotype distribution between the two groups. Logistic regression analysis was used to identify genotypes associated with PIS. Results: There was no significant difference in age and gender between the two groups(both P>0.05). The distributions of V444A allele and genotype accorded with Hardy-Weinberg equilibrium law (P=0.161), which indicated that the selected control group represented statistically acceptable sample. Two alleles of T and C, and three genotypes of TT, TC and CC were detected in the locus of V444A. The T and C allele frequencies in the PIS group and the control group were 28.4% vs 35.4%, and 71.6% vs 64.6%, respectively. The frequencies of the T and C alleles were not different between the two groups (P=0.054). The frequencies of TT, TC and CC genotypes in the two groups were 5.5%, 45.7%, 48.8%, and 14.6%, 41.5%, 43.9%, respectively, with significant difference between the two groups (P=0.023). Logistic regression analysis revealed the V444A polymorphism (TC heterozygous mutation) was associated with PIS. Conclusion: ABCB11 gene polymorphism at the site of V444A may be related to the susceptibility of PIS.

Vitamin D Receptor Gene Polymorphisms and the Risk of Chronic Hepatitis C Related Hepatocellular Carcinoma in Egyptian Population

Background: Small percentage of hepatitis C (HCV) patients develop hepatocellular carcinoma (HCC) during their lifetime, suggesting that genetic factors might modulate HCC development. Numerous variations on the vitamin D receptor gene (VDR) have been recognized in human cancers. The majority of them cause VDR to be unable to bind to 1, 25-OH-D. The aim of the present work was to investigate the relation of VDR FokI (rs2228570), BsmI (rs3782905) and ApaI (rs7975232) gene polymorphisms and the risk of HCC development in chronic HCV Egyptian patients. Methods: A total of 311 Egyptian patients were enrolled for this study. They were divided into 3 groups: 103 patients with liver Cirrhosis, 107 patients with HCC and 101 normal healthy subjects as the control group. Human genomic DNA Extraction was carried out using QIAamp® DNA Blood Mini Kit (QIAGEN) Genotyping of VDR ApaI (rs7975232) single nucleotide polymorphism (SNP) was carried out using real-time PCR TaqMan allelic discrimination assay with allele-specific designed fluorescent MGB probes. Results: Patients with HCC had a higher frequency of ApaI CC genotype (P=0.035) CI (0.031-0.038). Patients with HCC carried a higher ratio of ApaI CC genotype compared to those with liver cirrhosis (x2=5.4 and P = 0.03) or controls (x2=6.8 and P = 0.01). Univariate analysis revealed that age, lower platelet count (<150×103/μL), higher AFP (>100 ng/ml), and ApaI CC genotype were the factors significantly associated with the development of HCC. Stepwise logistic regression analysis showed that all were independent predictors. Conclusion: ApaI CC VDR gene mutation is an independent risk factor for HCC development in Egyptian Cirrhotic HCV patients.

Assessment of the Relationship Between ERBB4 rs13393577 Polymorphism and Breast Cancer Susceptibility in Iranian Population

Background: Studies have shown that the polymorphism of genes involved in breast cancer in combination with environmental factors has an important role in the progression of breast cancer. Objectives: In this study, the association between polymorphism of the ERBB4 gene with breast cancer was investigated. Methods: In the present study, 110 patients with breast cancer and 110 healthy individuals were selected as controls. DNA extraction was performed on patients’ samples. The tetra-ARMS-PCR method was used to study rs13393577 polymorphism. Finally, statistical analysis was performed using SPSS software using t-test. Results: The results of the study in the patients' group showed that the frequencies of TT, CT, and CC genotypes were 73, 15, and 1.8%, and allelic frequency in this group for T and C alleles were 95 and 5%, respectively. In addition, the results of the study in the control group showed that the frequencies of TT, CT, and CC genotypes were 86, 11, and 0.9%, respectively. The allelic frequencies in the control group for the T and C alleles were 97 and 3%, respectively. In addition, the risk ratio and allelic reliability were obtained for T allele was OR: 3.06: and CI = 0.31 – 29.94 and for C allele was OR: 0.32: and CI: 0.03 - 3.19, respectively. Finally, statistical analysis showed that no significant difference was observed between the two groups (P > 0.05). Conclusions: The results of the present study showed that rs13393577 polymorphism in the EGFR gene (ERBB4) is not a genetic predisposing factor for breast cancer.

Stromal Derived Factor-1 Gene Polymorphism in Pediatric Immune Thrombocytopenia.

Immune thrombocytopenia (ITP) is a multifactorial disease in which both environmental and genetic factors have been implicated. The study aimed to investigate a possible association of single nucleotide polymorphisms (SNPs rs266085 and rs2839693) in the stromal derived factor-1 (SDF-1) gene and its association to ITP and effect on ITP severity and response to treatment. Genomic DNA was extracted from peripheral blood and polymorphism in SDF-1 gene rs266085 and rs2839693 was analyzed using PCR-restriction fragment length polymorphism technique in DNA extracted from 60 children with ITP together with 90 healthy controls. On analysis of SDF-1 rs266085 polymorphism, there was a high frequency of CC genotype in cases than controls and that difference was significant at codominant, overdominant, and dominant models (P<0.05). Furthermore, carriers of the CC genotype were more susceptible to severe ITP at onset, steroid dependency, and chronicity than carriers of other genotypes (P<0.05). Otherwise, no significant differences between ITP patients and controls as regard SDF-1 rs2839693 genotypes and alleles, and we did not find a relation between this polymorphism and ITP severity, steroid dependency, or duration. SDF-1 gene rs266085 SNP C allele is associated with susceptibility to develop ITP as well as increases the risk for severe ITP at onset, chronic ITP and steroid dependency.

C3435T Polymorphism of the ABCB1 gene in the Yakut Population

Background: The ABCB1 gene is responsible for resistance to various cytotoxic drugs. The product of the ABCB1 gene, P-glycoprotein (P-gp), acts as a transmembrane pump and influences the action of many drugs. More than 40 SNPs of the ABCB1 gene that alter the expression of P-gp have been identified. The ABCB1 rs1045642 SNP, designated as C3435T (C-the wild-type allele, T-the variant allele), correlates with the activity of P-gp. The aim of our research was to study the distribution of alleles and genotypes of the ABCB1 C3435T polymorphism in Yakuts, in comparison with other human populations. Methods and Results: The studied cohort included 149 healthy Yakut volunteers (36 men and 113 women). The average age of participants was 30.67±0.06 years. The ABCB1 gene is a highly polymorphic gene; the allele frequency of the C3435T polymorphism differs widely among the studied populations. The frequency of the mutant T-allele among the Yakuts was 51% .In the studied group of Yakuts, we revealed the prevalence of the heterozygous CT genotype (75.8%). The Yakuts have a relatively low frequency of CC (10.7%) and TT (13.4%) genotypes. This preliminary study did not include the objective of proving the relationship between the ABCB1 C3435T polymorphism and addictive disorders in Yakuts. The further search for functional polymorphisms of the ABCB1 gene and associations with addictive behavior using a systematic approach on larger samples is of great practical importance.

Evaluation of NOS2 Polymorphism in Gastric Adenocarcinoma Patients in Mazandaran Province

Introduction: Gastric cancer is the fourth most common cancer and the second leading cause of cancer death worldwide. North of Iran is a high-risk area for gastric cancer. Nitric oxide (NO), mainly synthesized by inducible nitric oxide synthase (NOS2) in pathological conditions, plays an important role in cytotoxicity, inflammation and fibrosis. In this research we studied the effect of (rs1137933) T&gt;C genotype on gastric cancer. Methods: This analysis was performed on 93 patients with gastric cancer who were referred to endoscopy Tuba Clinic in 2015 and 93 healthy individuals as controls. DNA extracted from peripheral blood samples was applied in PCR-RFLP (Polymerase chain reaction- restriction fragment length polymorphism) analysis to determine (rs1137933) T&gt;C genotype. The association of the (rs1137933) T&gt;C genotype and gastric cancer risk were analyzed by MedCalc software and (X2) Chi-square and (OR) Odds Ratio exams. Results: Frequency of TT, CT, and CC genotypes in cases was 12.61, 51.35 and 36% and 38.7, 34.4, and 26.8% in the control group. Significant association was found between (rs1137933) T&gt;C genotype with gastric cancer chance, P&lt;0.05, OR=2/04, 95% CI (1/37 to 3/03). Conclusion: The results of the study show that the presence of CC+CT genotypes may increase the risk of gastric cancer. P &lt; 0.0001, OR=4.37 (2.17 to 8.80).Therefore, investigating the (rs1137933) T&gt;C single nucleotide polymorphism of NOS2 gene could be an appropriate molecular marker that could be used to determine individual sensitivity to gastric cancer and for designing cancer prevention programs.

Effect of Single Nucleotide Polymorphism rs1044925 in Acyl-CoA: Cholesterol Acyltransferase-1 Gene on Plasma Lipid Parameters in Patients with Ischemic Stroke

Acyl-coenzyme A: cholesterol acyltransferase-1 (ACAT-1) catalyzes the synthesis of cholesteryl esters from cholesterol and fatty acyl-CoA in tissues and the enzyme plays a major role in atherosclerosis and cellular cholesterol homeostasis. The study shows the effect of single nucleotide polymorphism rs1044925 in acyl-CoA:cholesterol acyltransferase-1 gene on plasma lipid parameters in patients with ischemic stroke. 100 patients with ischemic stroke and 100 controls matched for sex and aged 46-87 were selected for the study. Lipid profiles were measured using Randox kits and lipoprotein ratios were calculated using Excel software. The genotyping of the acyl-coenzyme A: cholesterol acyltransferase-1 rs1044925 SNP were performed by Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) combined with 2% gel electrophoresis. There were significant difference (P&lt;0.05) in the genotypic and allelic frequencies of ACAT-1 rs1044925 SNP between the normolipidemic and patients with ischemic stroke. The frequencies of AC, CC and AA genotypes of the ACAT-1 gene were 33%, 3% and 64% for the control and 57%, 5% and 38%, for the stroke subjects respectively. The frequencies of C and A alleles were 19.50% and 80.50% for the control and 33.50% and 66.50% for the ischemic stroke subjects (P &lt; 0.0001) respectively. The effects of genotypes on plasma lipid profiles and lipoprotein ratios were found for both control and stroke subjects. The A allele carriers of ACAT-1 rs1044925 SNP had lower plasma TG, TC, VLDL-C and other lipid parameters as compared to the C allele carriers for both subjects. The C allele carriers were responsible for the increase in dyslipidemia for both subjects. The results of this study show that the polymorphism of rs1044925 in the ACAT-1 gene as effect on plasma lipid profiles and lipoprotein ratios in ischemic stroke patients.

Association of SNP rs700519 in CYP19A1 Gene with Polycystic Ovary Syndrome (PCOS) Among Females of Quetta, Pakistan

ABSTRACT Polycystic Ovary Syndrome (PCOS) is endocrine reproductive disorder which causes oligomenorrhea/ amenorrhea, infertility, type II diabetes. The present study aims in CYP19A1 polymorphism rs700519 (C/T) identification that elevates androgen among PCOS females in Quetta, Pakistan. Cross-sectional study involved enrollment of 100 control and 100 affected females. Blood samples were collected for genetic and hormonal analysis. The samples were amplified via ARMS PCR and analyzed by sequencing. The frequency of CC genotype in control and PCOS group was 48 percent and 33 percent. For CT, it was 52 percent and 67 percent. In control group, the allele frequency for C and T was 0.74 and 0.26. In PCOS group, it was 0.67 and 0.33 for C and T, respectively. The Pearson Chi-Square p=0.031 (p&lt;0.05) at 95% Confidence Interval inferred a significant difference between the observed genotypes. The study inferred that CT genotype is a risk factor for PCOS progression in the population of Quetta.

Association of SNP rs700519 in CYP19A1 Gene with Polycystic Ovary Syndrome (PCOS) Among Females of Quetta, Pakistan

ABSTRACT Polycystic Ovary Syndrome (PCOS) is endocrine reproductive disorder which causes oligomenorrhea/ amenorrhea, infertility, type II diabetes. The present study aims in CYP19A1 polymorphism rs700519 (C/T) identification that elevates androgen among PCOS females in Quetta, Pakistan. Cross-sectional study involved enrollment of 100 control and 100 affected females. Blood samples were collected for genetic and hormonal analysis. The samples were amplified via ARMS PCR and analyzed by sequencing. The frequency of CC genotype in control and PCOS group was 48 percent and 33 percent. For CT, it was 52 percent and 67 percent. In control group, the allele frequency for C and T was 0.74 and 0.26. In PCOS group, it was 0.67 and 0.33 for C and T, respectively. The Pearson Chi-Square p=0.031 (p&lt;0.05) at 95% Confidence Interval inferred a significant difference between the observed genotypes. The study inferred that CT genotype is a risk factor for PCOS progression in the population of Quetta.

Molecular Analysis of rs2910164 Polymorphism and its Association with TNF-α Gene Expression in Colorectal Cancer

Background: Colorectal cancer (CRC) is one of the most common malignant tumors in the world, which has been introduced as the third most common cancer and the third leading cause of death. This cancer is uncommon before the age of 50. Its prognosis is controversial, and many studies report a poor prognosis in older patients, and the others show no difference. In addition to the factors, such as diet, environmental factors, somatic, and hereditary mutations, genetic factors, including altered expression of some microRNAs and mutations in tumor necrosis factor-α (TNF-α) gene, may be involved in CRC. Objectives: This study aimed to investigate the rs2910164 polymorphism from the miRNA146a gene and its association with the expression of TNF-α gene in CRC before and after the age of 50 for early diagnosis and treatment. Methods: In this study, 65 formalin-fixed paraffin-embedded (FFPE) tissue samples from patients with cancerous lesions of colorectal tissue (37 cases over 50 years were considered as the case group and 28 cases under 50 years were considered as the control group). DNA was extracted from the samples, and rs2910164 polymorphism of the miRNA146a gene was investigated by PCR. Moreover, RNA was extracted from the samples, and the expression of the miRNA146a and TNF-α genes were evaluated. Finally, Epi Info software version 7.1.3.10 and MedCalc Version 19.2.0 were used for data analysis. Results: The frequency of GG, GC, and CC genotypes from rs2910164 polymorphism of miRNA146a gene in the control group was 0.29, 0.46, and 0.25, respectively, but in the case group, it was 0.54, 0.38, and 0.08, respectively. The results also showed that the expression of miRNA146a (P = 0.00006) and TNF-α (P = 0.009) genes was higher in the case group than in the control group. Conclusions: Based on the results of this study, a significant correlation was found between GG genotype and rs2910164 polymorphism of miRNA146a gene and TNF-α gene expression in the CRC samples. Therefore, investigation of these factors may be helpful in patients with CRC over 50 years.

Association between the PLTP rs4810479 SNP and Serum Lipid Traits in the Chinese Maonan and Han Populations

The association between the phospholipid transfer protein (PLTP) gene rs4810479 single-nucleotide polymorphism (SNP) and serum lipid levels is largely unknown. This investigation aimed to evaluate the relationship between the PLTP rs4810479 SNP, several environmental risk factors, and serum lipid parameters in the Chinese Maonan and Han nationalities. Polymerase chain reaction-restriction fragment length polymorphism, gel electrophoresis, and direct sequencing were employed to determine the PLTP rs4810479 genotypes in 633 Maonan and 646 Han participants. The frequencies of CC, CT, and TT genotypes and the C allele were different between Maonan and Han groups (29.07%, 53.08%, 17.85%, and 55.61% vs. 35.60%, 49.70%, 14.70%, and 60.45%, respectively, P < 0.05). The C allele carriers in the Maonan group had higher high-density lipoprotein cholesterol levels than the C allele noncarriers, but this finding was only found in Maonan males but not in females. The C allele carriers in Han males had lower total cholesterol and low-density lipoprotein cholesterol levels than the C allele noncarriers. Serum lipid profiles were also affected by several traditional cardiovascular risk factors in both populations. There might be an ethnic- and/or sex-specific association between the PLTP rs4810479 SNP and serum lipid traits.

The associations between THBD c.1418C>T polymorphism and lower extremity deep vein thrombosis or endothelial progenitor cell.

Studies have shown that the thrombomodulin gene (THBD) c.1418C>T polymorphism is associated with a variety of cardiovascular diseases. However, the study of THBD c.1418C>T polymorphism in deep vein thrombosis (DVT) is rare. This study aimed to reveal the correlation between the THBD c.1418C>T mutation and the occurrence of DVT, and to reveal partial molecular mechanism of endothelial progenitor cells (EPCs) participating in the onset of DVT. Whole blood samples of patients with lower extremity DVT (N.=100) and normal volunteers (N.=100) were collected to analyze the distribution of genotype of THBD c.1418C>T polymorphism using PCR and DNA sequencing. The pCMV6-entry vectors containing wild-type (WT) or mutated THBD cDNA (p. Ala473Val) were transfected into bone marrow derived EPCs. And the successful transfection of recombinant THBD and the stable expression of p. Ala473Val variant were determined by ELISA, respectively. Wound healing assay and Transwell migration assay were used to determine the migration ability of EPCs, and the cell angiogenesis ability was determined by tube formation assay. Western blotting was used to detect the expression level of related proteins. The frequencies of CC, CT and TT genotypes were 56%, 36%, 8% in patients with lower extremity DVT and 72%, 25%, 3% in controls group, respectively, and THBD c.1418C>T polymorphism was related with increased risk of DVT, especially in women. High level of p. Ala473Val variant inhibited the EPCs migration, the p. Ala473Val variant significantly decreased the activation of protein C and the expressions of VEGFRs and MMP1, MMP2, MMP3. Furthermore, p. Ala473Val variant also weaken the angiogenesis of EPCs and decreased the expression level of VE-cadherin, Flk-1, eNOS, and TIE-2. THBD c.1418C>T polymorphism is related with the lower extremity DVT, this may partially because of the inhibition of migration and angiogenesis of EPCs.

Lack of Association between CYP1A1 3801T &amp;gt; C Polymorphism and Idiopathic Male Infertility in Algerian Population

&lt;p&gt;&lt;strong&gt;Background and Objective:&lt;/strong&gt; Ongoing research suggests that cytochrome P4501A1 (CYP1A1) 3801T &amp;gt; C polymorphism may be correlated with human male infertility but the reported results are conflicting. Hence, this case-control study was conducted in Algerian population to determine the frequency of this polymorphism and its relationship to male infertility.&lt;br /&gt;&lt;strong&gt;Methods:&lt;/strong&gt; This study included 173 subjects grouped into two categories: controls (84) and patients (89) with abnormal semen analysis parameters. Genomic DNA from the patients and controls was extracted and PCR-restriction fragment length polymorphism was used to genotype the 3801T &amp;gt; C CYP1A1 polymorphism.&lt;br /&gt;&lt;strong&gt;Results:&lt;/strong&gt; In the control group, the frequency of homozygous wild-type TT, heterozygous TC, and mutant homozygous CC genotypes of the CYP1A1 T &amp;gt; C polymorphism was 84.52%, 13.10%, and 2.38%, respectively, while infertile men had 77.53%, 20.22%, and 2.25%, respectively. There was no correlation between the 3801T &amp;gt; C CYP1A1 variant and male infertility. Furthermore, the rs4646903 C allele was not a risk factor in the dominant genetic model.&lt;br /&gt;&lt;strong&gt;Conclusion:&lt;/strong&gt; The 3801T &amp;gt; C polymorphism cannot be considered as a risk factor for male infertility in Algerian population. Our results need to be validated and confirmed through prospective studies with a larger number of patients.&lt;/p&gt;&#x0D; &lt;p&gt;&amp;nbsp;&lt;/p&gt;

CCR4 1014C/T and CCL22 16C/A Genetic Variations in the Iranian Patients with Thyroid Cancer

Background: The aim of this study was to investigate the association between thyroid cancer and 16C/A single nucleotide polymorphism (SNP) in C-C motif chemokine 22 (CCL22) as well as 1014C/T SNP in C-C chemokine receptor type 4 (CCR4). Method: In this case-control study, Polymerase Chain Reaction Restriction-Fragment Length Polymorphism (PCR-RFLP) was performed for 113 thyroid cancer patients and 112 age-sex matched healthy controls to investigate the genotype distribution. Results: At position 16C/A in CCL22, 95 patients (84.3%) were found to have CC genotype while 17 individuals (14.8%) inherited CA genotype and 1 (0.9%) had AA genotype. In the control group, 92 volunteers (82.1%) inherited CC genotype, 18 individuals (16.1%) had CA genotype, and 2 (1.8%) had AA genotype. The frequency of CC, CT, and TT genotypes of 1014C/T SNP in CCR4 gene was 60 (53.1%), 43 (38.1%), and 10 (8.8%) in the patients, and 57 (53.3%), 43 (40.2%), and 7 (6.5%) in the control group, respectively. There were no statistically significant differences between the patients and controls in terms of 16C/A polymorphism in CCL22 (P= 0.816) and 1014C/T SNP in CCR4 1014C/T gene position (P=0.801). Nevertheless, the study of their association indicated that inheriting the CC genotype of CCR4 is significantly associated with higher stages (stages 3 and 4) in thyroid cancer. Conclusion: 1014C/T genetic variation in CCR4 and 16C/A polymorphism in CCL22 were not found to have a role in the incidence of thyroid cancer. Inheriting CC genotype at 1014 locus in CCR4 may, however, affect cancer progression in patients with thyroid cancer.

Relationship between IKZF3 Gene Single Nucleotide Polymorphisms and Childhood Acute Lymphoblastic Leukemia

To investigate the relationship between single nucleotide polymorphisms (SNPs) of IKAROS family Zinc finger 3 (IKZF3) gene and the risk of acute lymphoblastic leukemia (ALL) in children. The peripheral blood samples from 286 children with ALL and 382 healthy children were collected and divided into ALL group and control group, respectively. The genotypes of IKZF3 gene at rs62066988 C > T and rs12946510 C > T were detected by quantitative PCR with TaqMan detection system, and their correlation with ALL was analyzed. The distribution frequencies of CC, CT and TT genotypes at rs62066988 in ALL group were 58.39%, 37.06% and 4.55%, respectively, while those in control group were 69.19%, 27.68% and 3.13%, respectively. The distribution frequencies of CC, CT and TT genotypes at rs12946510 in ALL group were 58.16%, 34.75% and 7.09%, respectively, while those in control group were 55.76%, 37.43% and 6.81%, respectively. Compared with the control group, the distribution frequency of CT/TT genotype at rs62066988 was significantly increased in the ALL group (OR=1.59, 95%CI: 1.16-2.19, P=0.004). However, there was no significant difference in the distribution of rs12946510 C > T polymorphism between ALL group and control group. The CT/TT genotype of IKZF3 at the site of rs62066988 is associated with the increased risk of ALL in children.

Influence of IL28B of Donors and Recipients on Liver Transplantation Due to End Stage HCV Related Liver Disease

Abstract Background: Recent studies have described a major impact of the IL28B gene polymorphism on graft survival post liver transplantation. Our study aims to investigate the impact of IL28B of donors and recipients on the natural course and outcome of liver transplantation due to end stage HCV related liver disease. Aim of Study: This study aims to investigate SNP of IL28B gene in Egyptian patients with end stage HCV related liver disease. Correlating the prevalence of IL-28b-alleles with patient and graft survival and with the progression of fibrosis for HCV-induced (graft) liver disease after liver transplantation. Also to correlate IL28B genotype with the outcome after liver transplantation. Patients and Methods: Donor and recipient IL28B rs12979860C>T single nucleotide genotype was determined in 24 patients who had undergone LT for HCV-induced end stage liver disease and received regular follow-up evaluations for two years post liver transplantation. Results: We found that the CC genotype frequency was reduced among patients with HCV related end stage liver disease while, in contrast, the frequency of CT & TT increased. No association was noted between IL 28B polymorphism of donors and recipients regarding fibrosis progression or patient and graft survival, as well as liver outcomes. Conclusions: No impact of IL 28B polymorphism on fibrosis progression, liver outcomes or patient and graft survival.

Predictive Value of Interferon γ Receptor Gene Polymorphisms for Hepatocellular Carcinoma Susceptibility.

Background:Recent reports suggested relation between Interferon Gamma (IFN-γ) gene polymorphism and the risk of development of HCC on top of hepatic cirrhosis. The aim of this study was to address the predictive value of Interferon Gamma gene receptor (IFN-γR) polymorphisms for the occurrence of hepatocellular carcinoma on top of liver cirrhosis. Patients and Methods:This is a case control study performed on patients selected from the outpatient hepatology clinic, specialized medical hospital, Mansoura University, Egypt, from August 2017 to February 2019. The included patients were categorized into two groups; 60 patients with HCC on top of cirrhosis and 20 patients with hepatic cirrhosis. For all patients IFN-γR polymorphism was identified by RFLP. Results:Our study showed that HCC patients had male predominance. Additionally, diabetes mellitus (DM) was found in 28.3% of total HCC patients. Half of HCC patients in this study were from rural areas (50%). The frequency of AA at position -611 in the IFN-γR (-611 IFN-γR) was significantly higher in the HCC group as compared to cirrhotic group (P=0.021). Moreover; the frequency of CC and CT genotypes of IFN-γR -56 was not significantly different in HCC group as compared to control group (P>0.05). The IFN-γR (-611 IFN-γ) AA genotype significantly increased risk of HCC (OR= 0.78, 95% CI= 0.10-6.39; P= 0.042).Conclusion:The analysis of IFN-γR -611 single nucleotide gene polymorphism could be a valuable marker for predicting subgroup of cirrhotic patients with high risk of developing HCC. Cirrhotic patients have AA genotype of IFN-γR-611 recommended to be under close follow up.

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.

Relationship between postmenopausal osteoporosis and glucocorticoid receptor gene (NR3C1) polymorphism in a Turkish population

IntroductionGlucocorticoids (GCs) are used in the treatment of numerous diseases, and long-term use of GCs causes bone loss. GC receptor activation decreases Bone Mineral Density (BMD) by inhibiting and stimulating osteoblasts and osteoclasts, respectively. GC receptor gene polymorphisms are also associated with increased susceptibility to GCs. The purpose of this study was to assess the relationship between osteoporosis and Glucocorticoid receptor gene (NR3C1) polymorphism in Turkish population.Material and methodsThe study group consisted of 232 unrelated patients with osteoporosis and 150 unrelated healthy controls. All participants, patients and healthy controls, were of Turkish origin, from the central region of Turkey. Genomic DNA was isolated from whole venous blood samples using a commercial DNA isolation kit. The NR3C1 BclI gene C/G polymorphism was analyzed by polymerase chain reaction.ResultsThe frequencies of CC, CG and GG genotypes in the patients were 34.5%, 48.3%, and 17.2% and in the controls were 48.0%, 42.0%, and 10.0%. A statistically significant difference was observed between patients and controls according to genotype frequencies (p=0.01). C and G allele frequencies of C/G polymorphism were 58.6% and 41.4% in patient group and 69.0% and 31.0% in control group (p=0.005).ConclusionsThe NR3C1 BclI gene C/G polymorphism could be one of the genetic factors causing osteoporosis.