Gene Polymorphism In Patients Research Articles

Clinical Impact of Platelet Reactivity and Gene Polymorphisms in Patients With Ischemic Heart Disease After Percutaneous Coronary Intervention

Clinical Impact of Platelet Reactivity and Gene Polymorphisms in Patients With Ischemic Heart Disease After Percutaneous Coronary Intervention

CYP3A4*2 Gene Polymorphism and its association with Clinical Phenotyping (temperament) Concept of Unani Medicine Philosophy in Indian Population

Phenotypic heterogeneity is one of the major concerns in personalized medicine. Variations in drug metabolism rates vary in every individual and have been associated with drug metabolizing gene polymorphism. CYP3A4*2 gene polymorphism in drug metabolism has been reported to be associated with a range of diseases. In this regard, the present investigation is aimed to determine the possible association of Unani philosophy of temperaments (clinical phenotypes) with CYP3A4*2 gene polymorphism in patients and controls. In the present study, 800 subjects were analyzed for CYP3A4*2 gene polymorphism by PCR-RFLP technique in four different clinical phenotypes (Sanguine, Phlegmatic, Choleric and Melancholic) as per unani philosophy. Mutant allelic frequencies of patients and controls of four unani temperaments are sanguine (Damavi) (0.19 vs 0.12), phlegmatic (Balghami) (0.21 vs 0.11), bilious (Safravi) (0.23 vs 0.11) and melancholic (Saudavi) (0.16 vs 0.11) subjects. Safravi (p<0.04) and Balghami (p<0.01) results are statistically significant. Bilious (Safravi) and phlegmatic (Balghami) patients showed significant association with CYP3A4*2 gene polymorphism with 1.76 and 2.04 odds risk. Further such studies are essential in unani regime for providing better treatment for many diseases which require personalized medicine based on phenotype-genotype correlation.

Determination of serum vascular endothelial growth factor (VEGF) and VEGF receptor levels with VEGF gene polymorphisms in patients with Behçet’s uveitis

Behçet's disease (BD) is a chronic inflammatory vasculitis affecting multiple organs. Uveitis is frequently seen in patients with BD, especially in Turkish population. To investigate vascular endothelial growth factor (VEGF) gene polymorphisms along with the levels of VEGF and VEGF receptors in patients with Behçet's uveitis (BU). Fifty-five BD-associated uveitis patients and 30 ageand sex-matched controls were included in this case-control study. The genotypes of the single nucleotide poymorphisms (SNPs): rs2010963 (+405G), rs3025039 (+936T) and rs699947 (-2598A) of the VEGF-A gene were determined using real-time polymerase chain reaction (RT-PCR) and serum levels of VEGF and VEGF receptors were measured using enzyme-linked immunosorbent assay (ELISA). No associations of the VEGF gene polymorphisms were observed in BD uveitis patients, but arthritis was present in 53.3% of patients not possessing CT genotype in C3025039→T polymorphism (p = 0.024). Although there were no statistically significant differences in serum VEGF-A, VEGF-C and soluble vascular endothelial growth factor receptor-3 (sVEGFR-3) levels (p < 0.05), serum vascular endothelial growth factor receptor-1 (VEGFR-1) and sVEGFR-3 levels were significantly higher in the BD group (p < 0.001 and p = 0.001, respectively). In addition, VEGF-C/soluble vascular endothelial growth factor receptor-2 (sVEGFR-2) ratio was significantly higher (p < 0.001), while VEGF-A/VEGFR-1 and VEGF-C/sVEGFR-3 ratios were significantly lower (p < 0.001 and p = 0.033, respectively) in BD patients compared to controls. Also, VEGF-C/sVEGFR-3 (p = 0.024, r = 0.37) and VEGF-C/sVEGFR-2 (p = 0.020, r = 0.38) ratios were positively correlated with disease duration. The significant changes in sVEGFR-3 levels and VEGF-C/sVEGFR-3 ratio has shown that lymphangiogenesis processes might take place in the pathogenesis of BD uveitis, and these parameters can be important indicators of evaluation of BD patients with uveitis together with disease duration.

Prevalence of CYP2C19 Gene Polymorphism in Patients with Coronary Artery Disease Undergoing Percutaneous Coronary Intervention.

Prevalence of CYP2C19 Gene Polymorphism in Patients with Coronary Artery Disease Undergoing Percutaneous Coronary Intervention.

Analysis of Association Between the Effects of Methylphenidate and DRD4 Gene Polymorphisms in Patients with Attention Deficit Hyperactivity Disorder

Background: Drug treatment is one of the most important treatments for attention deficit hyperactivity disorder (ADHD). The DRD4 gene is a transporter and receptor coding gene of dopamine and is one of the most important genes under investigation in the disorder and etiology of ADHD. In this study, the association between rs3758653 C/T and VNTR exon 3 repetition polymorphisms of the DRD4 gene and the effects of methylphenidate were investigated in patients with ADHD disorder consuming methylphenidate. Methods: The descriptive-analytical study was performed on 122 patients (5 - 18 years old) with ADHD who were treated with methylphenidate. DNA was extracted using salting out method. Subsequently, the rs3758653 polymorphism in the 5'UTR region of DRD4 gene was genotyped by PCR-RFLP method, and the VNTR fragment in exon III of DRD4 gene was investigated by electrophoresis gel on acrylamide gel method. After eight weeks from the start of drug treatment with methylphenidate, the intensity of symptoms was evaluated using the Conners scale. Finally, all data from questionnaires and information that were resulted from laboratory findings were analyzed using ANOVA and repeated measure analysis. Results: Of the 122 patients under study, 15 patients (12.3%) were responded to the drug treatment, and 107 patients (87.7%) were not responded. The significant differences were not revealed in genotype, and allele frequencies of between rs3758653 (C/T) and exon III 3'VNTR repeats polymorphisms of the DRD4 gene and responder and non-responder of ADHD groups to the drug treatment. Conclusions: The results showed that the reduction of ADHD symptoms with drug treatment is not related to DRD4 sub-types in patients with ADHD.

DRD4 Exon 3 Gene Polymorphisms in Patients Diagnosed with Polysubstance Use Disorder and Co-Occurrence of a Depressive Episode.

Background: There has been a noticeable and systematic growth of the use of psychoactive substances over the past few decades. Dual diagnosis is a clinical term referring to the occurrence of psychoactive substance use disorder comorbid with another psychiatric disorder in the same person. The most common type of dual diagnosis is the co-occurrence of alcohol use disorder and mood disorders in the form of a depressive episode. Co-occurrent substance use disorders are frequently influenced by genetic factors. In selecting our area of research, we focused on dopamine and the DRD4 (Dopamine Receptor D4) gene polymorphism as well as associations with personality features. The aim of the study: The aim of the study was to compare DRD4 exon 3 (DRD4 Ex3) gene polymorphisms in patients diagnosed with polysubstance use disorder and co-occurrence of a depressive episode to DRD4 exon 3 gene polymorphisms in patients diagnosed with polysubstance use disorder and without co-occurrence of a depressive episode and a group of healthy volunteers. The study also aimed at establishing associations between personality features and DRD4 exon 3 gene polymorphisms of male patients diagnosed with polysubstance use disorder with co-occurrence of a depressive episode which may present a specific endophenotype of this group of patients. Methods: The study group comprised 602 male volunteers: patients diagnosed with polysubstance use disorder comorbid with a depressive episode (PUD MDD) (n = 95; mean age = 28.29, standard deviation (SD) = 7.40), patients diagnosed with polysubstance use disorder (PUD) (n = 206; mean age = 28.13, SD = 5.97), and controls (n = 301; mean age = 22.13, SD = 4.57). The patients and control subjects were diagnosed by a psychiatrist using the Mini International Neuropsychiatric Interview (MINI), the NEO Five-Factor Personality Inventory (NEO-FFI), and the State-Trait Anxiety Inventory (STAI) questionnaires. An analysis of the DRD4 exon 3 polymorphism was performed. Results: The patients diagnosed with PUD MDD compared to the control group of healthy volunteers showed significantly higher scores on both the STAI status and features scale and the NEO-FFI Neuroticism and Openness Scale, as well as lower scores on the Extraversion, Agreeableness, and Conscientiousness NEO-FFI scales. In the DRD4 exon 3 gene polymorphism, the s allele was more frequent in the PUD MDD compared to the l allele, which was less frequent. The results of the 2 × 3 factor analysis of variance (ANOVA) in patients and controls and the variant DRD4 exon 3 interaction were found on the Extraversion Scale and the Conscientiousness Scale of the NEO-FFI. Conclusions: The associations show that psychological factors combined with genetic data create a new area of research on addiction, including the problem of dual diagnosis. However, we want to be careful and draw no definite conclusions at this stage of our research.

Study of common chromosomal abnormalities and Plasminogen activator Inhibitor(PAI-1) gene Polymorphism (5G/4G) and Prothrombin (F2)gene mutation(G20210A) in women with recurrent abortions in the North West of Iran

Background. Parental chromosomal abnormalities as well as changes in genes encoding thrombophilic factors are common causes of recurrent abortions. One of the causes of thrombophilia is Factor II (F2) gene mutation (G20210A) and plasminogen activator inhibitor gene (PAI-1) polymorphism (4G/5G). Therefore, the present study aimed to investigate the frequency of chromosomal abnormalities and the association of thrombophilic gene polymorphisms in patients with abortion in northwestern Iran. Methods. In the present case-control study, cytogenetic analysis of 60 couples with a history of recurrent abortions was performed by the standard 72-hour culture of lymphocytes and G-banding. The polymorphism (5G/4G) of PAI-1 gene and the mutation (G20210A) of F2 genes were evaluated using RFLP-PCR and ARMS-PCR molecular methods, respectively. The obtained data were analyzed using statistical software. Results. No significant abnormalities affecting abortion were observed in cytogenetic studies; in the molecular study, the frequency of the 4G allele in patients and control groups were 54.2% and 33.3%, respectively; the frequency of 5G allele in the patients and control groups were 45.8% and 66.8%, respectively. The frequency of 5G/5G and 4G/5G genotypes is 25.0% and 41.6% in the patient group, and 55.0% and 23.3% in the control group, respectively. Also, the frequency of 4G/4G genotype in patients and controls were 33.3% and 21.6%, respectively. Conclusion. The results of this study show that there is a significant relationship between the frequency of the 4G allele of the PAI-1 gene with susceptibility to recurrent abortions in northwestern women, while no was relationship between F2 gene mutation and recurrent abortions was observed.

MicroRNA146a gene polymorphism in patients with rheumatoid arthritis and the relevant value with disease activity and extra-articular manifestations

Aim of the workTo analyze the relationship between miRNA-146a rs2910164 and rheumatoid arthritis (RA) susceptibility and clarifying its association with disease activity and extra-articular involvement. Patients and methodsThe study enrolled 50 RA patients and 40 controls. DNA extraction from whole blood was done. Genotyping was performed by real-time polymerase chain reaction. The selected single nucleotide polymorphism was rs2910164 in the miRNA-146a gene. Genotyping was performed on genomic DNA samples by allelic discrimination assay. Disease activity score (DAS28) and health assessment questionnaire-disability index (HAQ-DI) were assessed. ResultsThe mean age of patients was 44.8 ± 9.9 years while age at onset was 37.2 ± 9.8 years. Female:male was 5.3 vs 1. Females had significantly higher DAS28, visual analogue scale and rheumatoid factor (RF) than males (p = 0.04, p = 0.009, p = 0.03). The frequency of GC genotype was more in both males and females (62.5 vs 47.6%). GC genotype and G allele were the most frequent in patients. No significant difference in the frequency distribution of genotypes and alleles was observed between patients and controls. There was a significant difference in the number of swollen joints (p = 0.04) and sicca symptoms (p = 0.01) being higher in those with CC genotype with a tendency of increased DAS28, HAQ-DI, deformities and rheumatoid nodules with CC genotype and interstitial pulmonary fibrosis and RF with GG genotype. ConclusionsCC genotype was associated with sicca symptoms and swollen joints, deformities, disease activity and functional disability. miRNA-146a may be a potential biomarker for extra-articular manifestations of RA that need more attention and warrant aggressive therapy.

Investigation of macrophage migration inhibitory factors and gene polymorphisms in patients with psoriasis

Investigation of macrophage migration inhibitory factors and gene polymorphisms in patients with psoriasis

Transcription Factor 7-Like-2 (TCF7L2) rs7903146 (C/T) Polymorphism in Patients with Type 2 Diabetes Mellitus

Abstract Background Type 2 diabetes mellitus (T2DM) is a heterogeneous group of metabolic disorders characterized by the incapability of pancreatic beta cells to increase insulin secretion to compensate for insulin resistance in the peripheral tissues. T2DM is a multi-factorial disease including several environmental factors with the presence of genetic predisposition. The transcription factor 7-like-2 gene (TCF7L2) rs7903146 (C/T) polymorphism is one of the most susceptible genes to T2DM discovered to date, with contribution to the disease through the Wnt/β –catenin signaling pathway affecting pancreatic islet development, expression of several genes involved in insulin granules exocytosis and the incretin glucagon-like peptide 1 (GLP-1) gene. Aim of the Work In this study we aimed to investigate the potential association of the transcription factor 7-like-2 (TCF7L2) rs7903146 (C/T) gene polymorphism in patients with type 2 diabetes mellitus. Patients and Methods The study was a case- control study conducted on 70 T2DM patients recruited from the endocrinology clinic at Ain Shams University Hospitals, and 30 non diabetic healthy controls matched with the patients in age and sex. All subjects underwent full history taking, thorough clinical examination, routine laboratory investigations including haemoglobin A1c (HbA1c), lipid profile; total cholesterol (TC), triglycerides (TG), high density lipoprotein-cholesterol (HDL-C) and low density lipoprotein-cholesterol (LDL-C) and determination of TCF7L2 gene polymorphism by real-time quantitative polymerase chain reaction (RT-PCR). Results The minor T allele of the rs7903146(C/T) SNP was associated with high risk of development of T2DM with an OR of 1.35 (95% CI: 0.68-2.6), the heterozygous genotype (CT) with an OR 1.16 (95% CI: 0.49-2.7) and the homozygous mutant genotype (TT) with OR of 3.16 (95% CI: 0.15-6.31), however, they were statistically insignificant (p-value &amp;gt;0.05). Conclusion Our study did not confirm the presence of significant association between the TCF7L2 rs7903146(C/T) polymorphism and T2DM, however, it pointed to the possibility of presence of high risk of development of T2DM in patients with TT genotype. Further studies with higher sample size are needed to clarify the association.

Evaluation of vitamin D receptor gene polymorphisms in patients with differentiated thyroid carcinomas and nodular goiter.

The role of vitamin D has previously been determined in autoimmune and malignant thyroid diseases. We aimed to identify the haplotype distribution of single nucleotide polymorphisms (SNPs) in the vitamin D receptor (VDR) gene, which has been suggested to play a role in the pathogenesis of differentiated thyroid cancers and benign thyroid diseases. Two hundred and sixteen patients, 113 with benign and 103 with differentiated thyroid cancers, together with the same number of healthy controls, were included in the study. FokI, BsmI, ApaI, and TaqI SNPs in VDR were analyzed in all participants using the PCR-RFLP method. When the patients with differentiated thyroid cancers or the patients with nodular goiter and control cases were compared for BsmI, ApaI or TaqI polymorphisms, three genotype distributions (BB, Bb, bb; AA, Aa, aa; TT, Tt, tt) were found to not differ significantly. When the patients with differentiated thyroid cancers and control cases were compared for the FokI polymorphism in the VDR gene, the three genotype distributions (FF, Ff, ff) did not differ. However, in patients with nodular goiter, the FF genotype in the FokI polymorphism of the VDR gene was found to be statistically significantly higher (P=0.033). This is the first study in the literature evaluating the role of VDR gene SNPs in nodular goiter. We can suggest that SNP distribution in the VDR gene is not associated with malignancy but may cause some alterations in thyrocyte morphology and functions.

ABCA1 rs1883025 and CYP4F2 rs2108622 Gene Polymorphism Association with Age-Related Macular Degeneration and Anti-VEGF Treatment.

Background and Objectives: The age-related macular degeneration (AMD) pathophysiology is multifactorial, as it consists of interactions between aging, genetic, and environmental factors. We aimed to determine a relationship between AMD and the genes controlling lipid metabolism, and to assess its association with treatment results. The purpose was to find the ABCA1 rs1883025 and CYP4F2 rs2108622 gene polymorphisms in patients with exudative AMD (eAMD) treated with anti-VEGF. Materials and Methods: The study enroled 104 patients with eAMD and 201 healthy persons in a control group. The genotyping of rs1883025 and rs2108622 was performed using the RT-PCR method. The best-corrected visual acuity (BCVA) and central retinal thickness (CRT) were measured before anti-VEGF therapy, then at three and six months during the therapy, using optical coherence tomography (OCT). The patients were grouped to responders and non-responders according to the changes in BCVA and CRT. Results: The T allele at rs1883025 was more frequent in non-responder eAMD patients compared to responder eAMD patients (41.7% vs. 21.1%; p = 0.009). The analysis of rs2108622 gene polymorphism did not reveal any differences in the distribution of C/C, C/T, and T/T genotypes between the eAMD group and the control group (56.35%, 39.78%, and 3.87% in the eAMD group and 53.33%, 39.05% and 7.62% in the control group, respectively, p = 0.286). The comparison of CRT and BCVA between the rs2108622 genotypes revealed statistically significant differences: CRT was thicker for the CC carriers than for those with CT and TT genotypes (p = 0.030). Conclusion: The rs1883025 T allele was found to play a more significant role in non-responder eAMD patients compared to responder eAMD patients. The rs2108622 genotypes revealed statistically significant differences: CRT was thicker for the CC carriers than for those with CT and TT genotypes.

Investigation of HLA-DRB1 and IL28 gene polymorphism in patients with varying severity of COVID-19 infection

The work analyzed the polymorphisms of the HLA-DRB1 and IL28 genes in 100 patients who underwent COVID-19 with the development of infection with varying degrees of severity. To a mild degree of severity were patients without complications in the form of infectious pneumonate, to moderate and severe degrees - with the development of pneumonate with varying degrees of lung damage. In general, the distribution of alleles in patients with COVID-19 did not differ from the distribution of average values in Russia. However, the HLA-DRB1 *01 и *07 alleles were more common. Comparison of the frequency of HLA-DRB1 alleles in patients with COVID-19 with varying severity revealed more common alleles of *13 and *07 in the severety severe group. However, with OR of 3.2 and 1.8, their confidence intervals (CL) were in the range of 0.9-9.8 and 0.7-4.5 respectively. At severe severity, the presence of homozigotic variants of allele *07 is noted. (Fisher exact test, r.0.04). As for the IL28B gene, no statistically significant differences from the control group were found.

Serotonin Transporter Gene Polymorphism in Patients with Schizophrenic Disorders

Objective: Studies performed to solve the genetic basis of schizophrenia have focused on the role of serotonin in the etiology of schizophrenia and the function of serotonin transporter gene. This study aimed to investigate whether there was a relationship between schizophrenia and polymorphism of the Variable Number of Tandem Repeats (VTNR) and 5-HTT Gene-Linked Polymorphic Region (5-HTTLPR) variants in the transcriptional control region of the serotonin transporter gene or not.Method: A total of 55 schizophrenia patients who were diagnosed according to the diagnostic criteria of DSM-IV-TR and 32 healthy volunteers (the control group) were included in the study. DNAs were extracted from the bloods collected from the patient and control groups with the salting-out method. Alleles of the serotonin transporter gene polymorphism were determined with the polymerase chain reaction (PCR) method.Results: Based on the serotonin transporter gene intron 2 VNTR polymorphism, the distribution of 12/12, 12/10, 10/10, and 12/9 genotypes was 47.3%, 47.3%, 3.6%, and 1.8% in the patients and 46.9%, 46.9% and 6.3% respectively in the control group. There was no 12/9 genotype in the control group. The distribution of L/L, L/S and S/S genotypes according to the 5-HTTLPR polymorphism was 30.9%, 41.8% and 27.3% in the patients and 28.1%, 50.0% and 21.9% respectively in the control group. Conclusion: Although the allele and genotype distributions of the serotonin transporter gene polymorphism relatively differed between the patient and control groups this difference was not statistically significant.

Genetic association and epistatic interaction analysis of cluster of differentiation 14 and mannan-binding lectin 2 gene polymorphic variants in susceptibility to chronic periodontitis

ObjectiveTo study the association and epistatic interactions of cluster of differentiation 14 (CD14) and mannan-binding lectin 2 (MBL2) gene polymorphic variants in Indian patients with chronic periodontitis (CP). DesignWe enrolled a total of 242 individuals (121 patients and 121 control subjects), age 35 to 60 years both irrespective of gender and identified CD14 (−159C > T, NC_000005.10:g.2569190:C > T) and MBL2 (codon 52, C > T, NM_000242:c.52C > T) polymorphic variants in peripheral blood samples. We also performed epistatic interaction analysis using multifactor dimensionality reduction (MDR) approach and predicted ribonucleic acid (RNA) structure of MBL2 gene using Genebee online RNA tool. ResultsSignificantly increased frequency of ‘CT' heterozygote and variant allele ‘T' in chronic periodontitis patients was observed for both CD14 and MBL2 gene polymorphisms. MDR analysis showed approximately two-fold increased risk of CP. In silico analysis showed lack of transcription factor ETF (TEA domain family member 2) binding-site in presence of ‘T' allele ‘in CD14 (-159C > T) polymorphism. The secondary RNA structure prediction of MBL2 (codon 52, C > T) polymorphism showed structural variations having approximately similar free energies. ConclusionsA dominant effect of genotype ‘CT' heterozygote and variant ‘T' allele observed for both CD14 and MBL2 gene polymorphisms in patients with CP. The presence of ‘T' allele also results in lack of transcription factor binding site at CD14 (-159C > T) and changes in arrangements of RNA molecules that may further affect expression of CD14 and MBL2 genes leading to increased susceptibility to CP pathogenesis.

Prevalence of Allelic and Genotypic Variants of Il4, Il10, Il12b and Tlr2 Gene Polymorphism in Patients with Chronic Polypoid Rhinosinusitis

Chronic polyposis rhinosinusitis (CPRS) is an important medical and social problem due to its prevalence, combination with other diseases (bronchial asthma, cystic fibrosis), prolonged recurrent course, which leads to a decrease in the quality of life and performance of patients. Bronchopulmonary, rhinogenic orbital and intracranial complications arising against the background of chronic sinusitis not only worsen the quality of life of patients, but also sometimes lead to long-term disability, and sometimes to disability. The results of our study demonstrated that the distribution of the genotypes of polymorphisms of all genes corresponded to the expected, i.e., in this case, the Hardy-Weinberg equilibrium is fulfilled in both groups. Both samples rs2243250 of the IL4 gene were characterized by high frequencies of the unfavorable C allele and the heterozygous T / C genotype, rs3212227 of the IL12B gene of the A allele and the heterozygous A / C genotype, rs1800895 592 C&gt; A in the IL10 gene of the A, C alleles, and heterozygous C rs5743708 in the TLR2 gene of the C allele and the heterozygous C / T genotype, hence the high level of genetic variability of the studied genes.

Prevalence of Allelic and Genotypic Variants of Il4, Il10, Il12b and Tlr2 Gene Polymorphism in Patients with Chronic Polypoid Rhinosinusitis

Chronic polyposis rhinosinusitis (CPRS) is an important medical and social problem due to its prevalence, combination with other diseases (bronchial asthma, cystic fibrosis), prolonged recurrent course, which leads to a decrease in the quality of life and performance of patients. Bronchopulmonary, rhinogenic orbital and intracranial complications arising against the background of chronic sinusitis not only worsen the quality of life of patients, but also sometimes lead to long-term disability, and sometimes to disability. The results of our study demonstrated that the distribution of the genotypes of polymorphisms of all genes corresponded to the expected, i.e., in this case, the Hardy-Weinberg equilibrium is fulfilled in both groups. Both samples rs2243250 of the IL4 gene were characterized by high frequencies of the unfavorable C allele and the heterozygous T / C genotype, rs3212227 of the IL12B gene of the A allele and the heterozygous A / C genotype, rs1800895 592 C&gt; A in the IL10 gene of the A, C alleles, and heterozygous C rs5743708 in the TLR2 gene of the C allele and the heterozygous C / T genotype, hence the high level of genetic variability of the studied genes.

Serum resistin levels and resistin gene polymorphism in patients with acne vulgaris: does it correlate with disease severity?

Acne vulgaris is a disease that inflames the sebaceous gland with multiple etiologies. Many proinflammatory adipokines contribute to this pathogenesis. Resistin is a proinflammatory mediator that activates kappa B, a nuclear factor, and c-Jun N-terminal kinases pathways inducing toll-like receptor-2, interleukin-1, 6, and tumor necrosis factor alpha. Resistin gene affects the promoter and intron regions' polymorphisms' expression levels. We aimed to study the association of resistin gene polymorphisms (RETN -420 C/G) and the development of acne vulgaris and whether it is associated with serum resistin levels and disease severity. Resistin (RETN) gene (rs1862513) genotypes were identified using restriction fragment length polymorphism (RFLP), and serum resistin presence was assessed by enzyme-linked immunosorbent assay in 40 patients with acne vulgaris and 40 age- and sex-matched healthy controls as a cross-reference. Patients were divided into mild, moderate, and severe groups. Global Acne Grading System (GAGS) was used to assess the severity of acne vulgaris. CG and GG genotypes were present in cases (P = 0.006) odds ratio (OR)1 = 4.43; 95% confidence interval (CI) (1.53, 12.7) and OR2 = 5.47; 95% CI (0.99, 30.1); G-allele statistically dominated in the patient group where P = 0.001 and OR = 3.57; 95% CI (1.63, 7.80). A positive significant relationship between RETN genotypes and serum resistin levels and GAGS score was present. RETN genes rs1862513 GG and G allele are correlated to acne vulgaris development and severity in a sample of the Egyptian population. This study comprised a small sample size. The cases may not accurately represent the general population; only one clinic was enrolled in the study.

IL-13 gene polymorphisms (-1112 C/T and -1512 A/C) in patients with chronic and aggressive periodontitis: Effects on GCF and outcome of periodontal therapy.

IL-13 is the key cytokine in the regulation of inflammatory with an autoimmune disease and has an anti-inflammatory effect. This study aimed to compare IL-13 (-1112 C/T and -1512 A/C) gene polymorphisms in patients with aggressive periodontitis (AgP), chronic periodontitis (CP), and periodontally healthy group (C) and evaluate the effect of nonsurgical periodontal therapy on gingival crevicular fluid (GCF) IL-13 levels in patients. One hundred thirty patients with AgP, 120 patients with CP, and 70 periodontally healthy subjects were included in this study. Clinical parameters were recorded (plaque and gingival index, probing pocket depth, clinical attachment level), and GCF and blood samples were taken at baseline and 6-week. Nonsurgical periodontal therapy was performed in patients with periodontitis. Gene analyses (IL-13 - 1112C/T (rs1800925) and - 1512 A/C (rs1881457) were performed with real-time polymerase chain reaction (PCR) and cytokine levels were determined by an enzyme-linked immunosorbent assay method. AgP and CP patients showed significant improvement in clinical parameters after periodontal therapy (P < 0.05). According to results, genotype distributions and allele frequencies in IL-13 variants - 1112C/T and - 1512 A/C were found similarly in all groups (P > 0.05). In the AgP group, GCF IL-13 cytokine level is statistically significant and increased in 6 weeks; however, in the CP group, there is no statistically significant difference between baseline and 6 week. In the AgP group, baseline GCF IL-13 cytokine level is lower than those of the CP group and C group (P < 0.05). Within the limits of this study, IL-13 -1112 and -1512 gene polymorphisms have not been associated with AgP and CP, and GCF IL-13 cytokine level is increased after treatment in the AgP group.

Association of Thr715Pro P-Selectin Gene Polymorphism in Diabetic Retinopathy in North Indian Population: A Prospective Clinical Study.

The aim of this study was to evaluate the role of Thr715Pro P-Selectin gene polymorphism in patients with Diabetic Retinopathy in North Indian population and establish its role in the pathophysiology as an independent factor. This is a prospective clinical study conducted on 60 patients at a tertiary care centre in North India over a period of eighteen months. Sixty patients satisfying the inclusion criteria were selected from the Vitreoretina clinic in the department. They were categorised equally in three groups namely Diabetics with diabetic retinopathy (DwDR), Diabetics without diabetic retinopathy (DwoDR), and non diabetics. The non-diabetics group was further divided into healthy controls, Hypertensive Retinopathy (HR) and Non-exudative Age Related Macular Degeneration (NEAMD). All the patients underwent complete ophthalmic evaluation and blood samples were drawn for the genetic study with their informed consent. Data was analysed using SPSS software version 16. The genotypic analysis between DwDR, DwoDR and the three subgroup of controls comprising of healthy controls, HR and NEAMD showed that Thr715Pro (A/C) polymorphism prevalence was significantly high in DwDR (p = 0.003) and DwoDR (p = 0.003) compared to healthy controls. No significant difference was noted between DwDR, DwoDR and the HR and NEAMD groups. Thr715Pro P-Selectin gene Polymorphism could not be established as an independent factor in the pathogenesis of diabetic retinopathy, as its association is found with other systemic diseases which create a prothrombotic state.