Frequencies Of CT Genotypes Research Articles

Screening of single nucleotide polymorphism in matrix metalloproteinase-2 (MMP2) and tetraspanin CD63 genes in Chlamydia trachomatis-infected tubal ectopic pregnancy patients.

Tubal ectopic pregnancy (EP) is a leading cause of maternal morbidity and mortality. Studies have suggested that infection-induced inflammatory responses are major risk factors for EP. The aim of the present study was to find an association between MMP2 and CD63 gene variants and risk of EP during Chlamydia trachomatis infection in an Indian population. Fallopian tube samples of 120 EP and 120 tubal ligation women were collected. C. trachomatis was detected by PCR. The genotyping of MMP2 (rs17859882 G/T, rs7201A/C) and CD63(rs2231464 C/T, rs376086542 A/G) gene variants was done by qualitative real-time PCR using allelic discrimination method (VIC- and FAM-labeled). The frequency of GG or GT genotype of MMP2 G/T polymorphism (rs17859882) was 66.6% in infected EP and 36.7% in uninfected EP and 22% in tubal ligation controls (P < 0.0001), while the frequency of AC or CC genotype of MMP2 A/C polymorphism (rs7201) was 66.6% in infected EP and 20.6% in uninfected EP and 13.5% in tubal ligation controls (P < 0.0001). The frequency of CT or TT genotype of CD63 C/T polymorphism (rs2231464) was 74% in infected EP and 21.8% in uninfected EP and 11.8% tubal ligation controls (P < 0.0001), while the frequency of AG or GG genotype of CD63 A/G polymorphism (rs376086542) was 48.1% in infected EP and 41.3% in uninfected EP and 18.6% tubal ligation controls (P < 0.0001). The present study revealed a strong association between the presence of gene variants MMP2 (rs17859882 G/T, rs7201A/C) and CD63 (rs2231464 C/T, rs376086542 A/G) and risk of tubal EP during C. trachomatis infection.

CYP2C8 rs11572080 and CYP3A4 rs2740574 risk genotypes in paclitaxel-treated premenopausal breast cancer patients

Breast cancer (BC) is the most prevalent malignancy in women globally. At time of diagnosis, premenopausal BC is considered more aggressive and harder to treat than postmenopausal cases. Cytochrome P450 (CYP) enzymes are responsible for phase I of estrogen metabolism and thus, they are prominently involved in the pathogenesis of BC. Moreover, CYP subfamily 2C and 3A play a pivotal role in the metabolism of taxane anticancer agents. To understand genetic risk factors that may have a role in pre-menopausal BC we studied the genotypic variants of CYP2C8, rs11572080 and CYP3A4, rs2740574 in female BC patients on taxane-based therapy and their association with menopausal status. Our study comprised 105 female patients with histologically proven BC on paclitaxel-therapy. They were stratified into pre-menopausal (n = 52, 49.5%) and post-menopausal (n = 53, 50.5%) groups. Genotyping was done using TaqMan assays and employed on Quantstudio 12 K flex real-time platform. Significant increased frequencies of rs11572080 heterozygous CT genotype and variant T allele were established in pre-menopausal group compared to post-menopausal group (p = 0.023, 0.01, respectively). Moreover, logistic regression analysis revealed a significant association between rs11572080 CT genotype and premenopausal BC. However, regarding rs2740574, no significant differences in genotypes and allele frequencies between both groups were detected. We reported a significant association between CYP2C8 genotypic variants and premenopausal BC risk in Egyptian females. Further studies on larger sample sizes are still needed to evaluate its importance in early prediction of BC in young women and its effect on treatment outcome.

Association Between Vascular Endothelial Growth Factor (VEGF) +936C/T Polymorphism (rs3025039) and Preeclampsia Among Myanmar Pregnant Women.

Background: The vascular endothelial growth factor (VEGF) polymorphism is associated with preeclampsia since its abnormal expression plays an important role in vasculogenesis in placenta formation. Thus, this study is aimed at analyzing the association between VEGF +936C/T polymorphism and the risk of preeclampsia. Methods: To assess the causal relationship, a hospital-based cross-sectional analytical study was carried out among 204 Myanmar pregnant women during the period of January 2018-September 2020. For data collection, a pretested, structured questionnaire was used. Blood samples were collected after obtaining consent, and then we studied the extracted gene by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The Statistical Package for Social Sciences version 18.0 was used for data management and analysis. Results: The genotype CT variant among preeclamptic women was more than that of non-preeclamptic women (26.5% vs. 18.6%), but not significant (p = 0.180). The risk of preeclampsia among women with CT genotypes was 1.57 times higher than that of women with CC genotypes (OR (95%CI) = 1.57 (0.81, 3.06), p = 0.180). The minor allele frequency of the T allele was 15.2% in preeclamptic women and 9.3% in normal pregnant women. The risk of preeclampsia among T allele carriers is 1.49 times (95%CI = 0.80, 2.77) more than that of C allele carriers (p = 0.211). Among the preeclamptic pregnant women, the frequency of the CT genotype was 26.3% in the severe preeclamptic group and 26.9% in the mild preeclamptic group, while the frequency of the T allele was 13.2% and 13.5%, respectively. The frequency of either CT genotype or T allele was more or less the same in both groups, and there was no association between VEGF C/T polymorphism and the severity of preeclampsia. After logistic regression analysis on VEGF genotype and clinical parameters such as age, maternal body mass index (BMI), and neonatal birth weight, the risk of preeclampsia was 2.1 times higher in pregnant women with CT genotype compared to CC genotype (adjusted OR, 2.1; 95% CI, 0.9-4.5, p value -0.057). Conclusion: There was no significant association between VEGF +936C/T polymorphism (rs3025039) and preeclampsia among Myanmar pregnant women. However, the findings of this study highlighted that individuals carrying either the CT genotype or the T allele are at a heightened risk of developing preeclampsia. Furthermore, it suggests a potential impact of the gene on the occurrence of preeclampsia, yet the data lacks sufficient evidence to establish statistical significance.

DGAT1 Gene Polymorphism in Morkaraman and Tushin

This study aims to investigate the polymorphism of the Diacylglycerol acyltransferase1 (DGAT1) gene locus in 105 Morkaraman and 65 Tushin lambs to determine the distribution of genotype and allele frequencies of lambs in terms of related genes. DGAT1/Alu1 gene polymorphism was defined by using the PCR-RFLP method in the DNAs isolated from hair samples taken from Morkaraman and Tushin lambs used in this study. PCR- RFLP products were run in an electrophoresis medium and the results were visualized on an ultraviolet (UV) transluminator. When the population was examined in terms of allele frequencies, it was defined that the C allele and the T allele were 0.72% and 0.28% for the Morkaraman, and 0.71% and 0.29% for Tushin, respectively. The CC, CT, and TT genotype frequencies of the DGAT1 gene in the population were found to be 53.3%, 38.1%, and 8.6% for the Morkaraman and 50.8%, 40.0%, and 9.2% for the Tushin, respectively. In the Hardy-Weinberg genetic equilibrium test, it was observed that the distribution of genotype frequencies was in balance (P&gt;0.05) in the population. It has been defined that the genotype and allele frequencies determined in terms of DGAT1 gene polymorphism may be found to be sufficient to reveal the genotype diversity of the breeds. The genotype and allele frequencies determined in terms of DGAT1 gene polymorphism were sufficient to reveal the genotype diversity of the breed, the sheep with CC genotype are economically advantageous in the herd, and therefore DGAT1 gene can be used for marker-assisted selection (MAS).

HCV treatment outcome depends on SNPs of IFNL3-Gene polymorphisms (rs12979860) and cirrhotic changes in liver parenchyma

Background and objectiveThe allelic discrimination of IFNL3-(rs12979860 C > T) polymorphism reveals ambiguous associations with the effectiveness of oral HCV treatment. Solitary intra peripheral-blood-mononuclear-cells (PBMCs) HCV-RNA antisense-strands are independently detected in naïve and experienced cases regardless of viremia or hepatic-parenchymal alterations. We examined the frequencies of IFNL3-genetic variants with chronic-HCV-induced liver changes during the sustained virologic response (SVR) by evaluating the PBMCs- HCV-PCR after oral antiviral therapy. Methods: Twelve weeks after finishing oral antiviral therapy, the effects of IFNL3-genetic variants were evaluated in three groups of patients: Group-I (n = 25) showed HCV-RNA negativity in both serum and PBMCs-, group II (n = 52) showed positivity of HCV-RNA in PBMCs, and group-III (n = 25) had positive HCV-RNA in serum. The genetic variants of the IFNL3-gene were estimated for all the enrolled cases and correlated with their hepatic image changes. Results: IFNL3-(rs12979860) genotyping in post-direct acting antivirals (DAAs) SVR and HCV-relapse revealed: a) high frequency of CC-genotype and C-allele in group I compared to group II (P < 0.005) and group III(P ≤ 0.05) when hepatic-parenchyma looks normal by ultrasound b) frequent CT-genotype and T-allele in group II compared with I(P < 0.01) and III(P < 0.05) when liver tissues are bright (early cirrhotic-changes) c) frequent TT-genotype and T-allele in group III relative to I (P < 0.05) and II (P ≤ 0.08) when liver-tissues appear coarse by ultrasound. Conclusion: Outcomes of HCV treatment depend on host IFNL3-gene polymorphism and hepatic-parenchymal changes. A high frequency of wild-CC-genotype and C-allele is observed in patients with normal hepatic parenchyma and that achieved SVR. Solitary relapse in PBMCs occurs on increasing CT-genotype frequency when liver tissues are bright. Serologic relapse is detected when TT-genotype and T-allele are dominant in association with the cirrhotic liver. Therefore, IFNL3-gene-SNP analysis as a genetic predictor in relation to ultra-sonographic hepatic-parenchymal changes could be valuable for selecting the patients with the highest priority for treatment.

Correlation between single nucleotide polymorphisms of folate metabolism genes and ethnic distribution in pregnant women.

This retrospective study aims to identify the single nucleotide polymorphisms (SNPs) of 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T, A1298C), methionine synthase reductase (MTRR) (A66G) and ethnic distribution characteristics in pregnant women, and to explore the risk correlation with folate metabolism. The demographic data of 8735 pregnant women aged 15 to 47 years were retrospectively analyzed, and peripheral blood samples were collected and tested. Reverse transcription-quantitative polymerase chain reaction was applied to determine the genotype and allele frequency of MTHFR C677T, A1298C and MTRR A66G in blood samples. Sperman correlation analysis, univariate and multivariate logistic regression analysis were used to verify the correlation between SNPs of MTHFR (C677T, A1298C), MTRR (A66G), different ethnic groups and the susceptibility and risk levels of folate metabolism. The relative risk of the SNPs was further determined by calculating the odds ratio (OR) at a 95% confidence interval (CI). The average age of 8735 pregnant women was 28.87 ± 4.20 years old. The evaluation of risk levels for folate metabolism was relative high, including 2296 cases with low risk, 3971 cases with medium risk, and 752 cases with high risk. Among the MTHFR C677T locus, the CC genotype had the highest frequency, MTHFR A1298C locus had the highest frequency of the AA genotype, and MTRR A66G locus had the highest frequency of the AA genotype. The frequency distribution of SNPs in different ethnic groups revealed that the frequency of CT genotype among the MTHFR C677T locus, AA genotype among the MTHFR A1298C locus and the MTRR A66G locus was the highest in Han, Buyi, Miao and Dong ethnic groups. The results of logistic regression analysis showed that the Han, Buyi, Miao and other ethnic groups (including Yi, Bai, Zhuang, Chuanqing) had the possibility of increasing the risk levels of folate metabolism. The CC genotype of MTHFR C677T (adjusted OR = 2.46, 95% CI: 2.14-2.84, P < .001) and the AG genotype of MTRR A66G (adjusted OR = 1.89, 95% CI: 1.61-2.22, P < .001) were significantly related to the risk levels of folate metabolism, which is an independent risk factor for the susceptibility of folate metabolism.

Interferon-Induced Transmembrane Protein 3 rs34481144 C/T Genotype and Clinical Parameters Related to Progression of COVID-19.

Recent research has associated the interferon-induced transmembrane protein 3 gene (IFITM3) with the outcomes of coronavirus disease 2019 (COVID-19), although the findings are contradictory. This study aimed to determine the relationship between IFITM3 gene rs34481144 polymorphism and clinical parameters with COVID-19 mortality. The tetra-primer amplification refractory mutation system-polymerase chain reaction assay was used to analyze IFITM3 rs34481144 polymorphism in 1,149 deceased and 1,342 recovered patients. The clinical parameters were extracted from the patients' medical records. In this study, the frequency of IFITM3 rs34481144 CT genotypes (OR 1.47, 95% CI 1.23-1.76, P < 0.0001) in both sexes was significantly higher in deceased patients than in recovered patients. Moreover, IFITM3 rs34481144 TT genotypes (OR 3.38, 95% CI 1.05-10.87, P < 0.0001) in women were significantly associated with COVID-19 mortality. The multivariable logistic regression model results indicated that mean age (P < 0.001), alkaline phosphatase (P = 0.005), alanine aminotransferase (P < 0.001), low-density lipoprotein (P < 0.001), high-density lipoprotein (P < 0.001), fasting blood glucose (P = 0.010), creatinine (P < 0.001), uric acid (P < 0.001), C-reactive protein (P = 0.004), 25-hydroxyvitamin D (P < 0.001), erythrocyte sedimentation rate (P < 0.001), and real-time PCR Ct values (P < 0.001) were linked with increased COVID-19 death rates. In conclusion, IFITM3 rs34481144 gene polymorphism was linked to the mortality of COVID-19, with the rs34481144-T allele being especially important for mortality. Further studies are needed to confirm the results of this study.

Evaluation of the possible association of PDCD-1 and LAG3 gene polymorphisms with hepatocellular carcinoma risk

PurposeProgrammed death-1 (PDCD-1) and lymphocyte activating 3 (LAG3), two important immunosuppressive molecules, play crucial roles in immune escape of tumor cells. This study evaluated the effects of PDCD-1 (rs10204525 and rs36084323), and LAG3 (rs870849 and rs1882545) gene polymorphisms on hepatocellular carcinoma (HCC) risk.Methods341 patients with HCC and 350 cancer-free controls in the South Chinese population were included in a population-based case-control study. DNAs were extracted from peripheral blood samples. Genotypes were analyzed using multiplex PCR and sequencing. SNPs were analyzed using multiple inheritance models (co-dominant, dominant, recessive, and over-dominant).ResultsThe allele and genotype frequencies of neither of the four polymorphisms, adjusted for age and gender, differed between HCC patients and controls. The differences were also not significant after stratifying by gender and age. According to our results, HCC patients with rs10204525 TC genotype had significantly lower AFP levels than HCC patients with rs10204525 TT genotype (P = 0.004). Moreover, the frequency of PDCD-1 rs36084323 CT genotype reduced the risk of TNM grade (CT vs. C/C-T/T: OR = 0.57, 95%CI = 0.37–0.87, P = 0.049).ConclusionOur results demonstrated that the PDCD-1 (rs10204525 and rs36084323), and LAG3 (rs870849 and rs1882545) polymorphism did not influence the risk of HCC, PDCD-1 rs10204525 TC genotype was associated with the lower AFP levels and rs36084323 CT genotypes were related to HCC tumor grades in the South Chinese samples.

Association between inducible nitric oxide synthase-954-G&gt;C and Ex16+14-C&gt;T gene polymorphisms and susceptibility to psoriasis and psoriatic arthritis

Background Psoriasis is a prevalent disorder of primarily skin and joint affection with a well-known genetic background and a sophisticated pathogenesis. The inducible nitric oxide synthase (iNOS) gene polymorphisms are unexplored areas of research when it comes to psoriasis. Objectives The aim of the study was to investigate the probable link between iNOS gene polymorphisms (-954 G/C and Ex 16+14C/T) and susceptibility to psoriasis and psoriatic arthritis (PsA). Patients and methods We included three groups of participants: 100 participants each of psoriasis, PsA and healthy controls. Genetic polymorphism analysis was performed utilizing the PCR with the restriction fragment length polymorphism method. Results Genetic analysis of iNOS polymorphism at Ex 16+14C/T revealed significantly increased CT genotype frequency and significantly lower CC genotype frequency in psoriasis (P=0.0011, 0.003, respectively) and PsA patients (P=0.001, P&lt;0.0001, respectively) in comparison to controls. Genetic analysis of iNOS polymorphism at −954 G/C revealed insignificant difference in genotype distribution between psoriasis patients and controls, whereas significantly increased GC genotype frequency (P=0.038) and significantly decreased GG genotype frequency (P=0.038) were detected in PsA patients versus healthy controls. Conclusions iNOS polymorphism at Ex 16+14C/T, particularly the CT genotype, is associated with psoriasis in Egyptians, whereas PsA is associated with polymorphism at Ex 16+14 and −954G/C.

Association of MTHFR C677T polymorphism with risk of preterm birth in Indian mothers: a case–control study

BackgroundSince MTHFR is the key enzyme in folate metabolism, its reduction can lead to hyperhomocysteinemia, which can have a negative impact on pregnancy outcome. Moreover, MTHFR polymorphism has also been linked with oxidative stress and genotoxicity. Identifying its ethnicity-specific association can help to reduce the incidence of preterm birth (PTB). Material and methods: Age-matched preterm birth mothers (< 37 weeks) and full-term mothers (> 37 weeks) were carefully selected for the study. The polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) method was adopted to analyse MTHFR C677T polymorphism. Oxidative stress (OS) analysis was performed by measuring the levels of antioxidants (superoxide dismutase (SOD) and catalase (CAT)) and OS damage markers (lipid peroxidation (LPO), total protein). Genotoxicity was confirmed by the cytokinesis-block micronucleus cytome (CBMN-Cyt) assay. The statistical analysis was performed by Student’s t test, chi-square test, and one-way ANOVA. The relevant risk of premature delivery was represented by odds ratios (ORs) with 95% confidence intervals (95% CIs).ResultsThe MTHFR polymorphism showed statistical significance for PTB outcome with CT and TT genotype frequencies at p < 0.01 and p < 0.05, respectively, between cases and controls. Within the PTB categories (extreme-, very-, moderate-PTB), TT genotype showed statistical significance at (p < 0.05), while CT genotype remained insignificant. Also, statistically high oxidative stress and DNA damage were observed in cases compared to controls for all genotypes. Furthermore, the T allele of the MTHFR gene was found to be linked with significantly increased OS and DNA damage on comparison within the groups.ConclusionsThis study confirms the MTHFR C677T polymorphism, oxidative stress, and genotoxicity biomarkers are associated with the PTB outcome. Analysis of these biomarkers during pregnancy can be of clinical significance.

Association of Breast Cancer with Single Nucleotide Polymorphism of CYP2C9 Gene for Women Patients in Baghdad, Iraq

Breast cancer (BC) is a very varied disease, with several subtypes that exhibit different biological, molecular, and clinical characteristics. Standard information on tumor biology and clinicopathology can be identified by gene expression profile; have provided enhanced prognostic and predictive information. This study included 37 patients suffering from breast cancer and 15 healthy subjects. DNA has been extracted from all samples and then real-time PCR has been performed to analyze the genotyping of Rs1799853. The results showed higher frequency of CT genotype in the control subjects than the patients (73.3 and 43.2, respectively) and this difference was significant (0dd= 0.28, p-value= 0.038). The CC genotype showed a non-significant higher frequency in patients than in control (24.3 and 6.7, respectively. P-Value= 0.247). The TT genotype also showed higher frequency in patients than in control (32.4 and 20, respectively. P-Value= 0.506). In conclusion, the genotype CT of the SNP Rs1799853 for CYP2C9 gene may have a great defense role against the breast cancer.

MTHFR Gene Polymorphisms in Iraqi Kurdish Rheumatoid Arthritis Patients: Relation to Methotrexate Response and Toxicity

Methotrexate (MTX) is still one of the gold standard treatments for rheumatoid arthritis (RA). It shows diverse outcomes in blood level and clinical response, this was demonstrated by its relation to the genetic polymorphism in the pharmacogenetic study. This study aimed to investigate the role of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms in relation to MTX efficacy and toxicity in Iraqi Kurdish RA patients. Sixty-four RA patients were involved in this study with an average age of 47.78 ±14.08 and female to male ratio of (8.1). Diagnosis and disease activity were confirmed. Blood analyses, including those of laboratory markers of disease activity, were done. The 28 joint disease activity score (DAS28-CRP) was calculated. MTHFR gene polymorphisms were analyzed by real-time polymerase chain reaction. The most frequent genotypes which were identified in RA patients were the CT genotype of the C677T single nucleotide polymorphism (SNP) (51.6%) and the AC genotype of the A1298C SNP (48.4%). Patients with non-response to treatment had high frequencies of genotypes CT and TT (58.0% and 12.0%) of the C677T SNP respectively, as compared to those in the responder group; 28.6% and 0.0%); T-allele was associated with drug non-responding OR=4.17, P value=.0.009, meanwhile; genotypes AC and CC of the A1298C SNP were seen in (54.0% and 16.0%) in non-responder group. Patients with active RA had increased frequencies of CT and TT genotypes of the C677T SNP (60.0% and16.0%) respectively as compared to those who were in remission (26.6% and 0.0%); T-allele was associated with high disease activity; OR = 5.11. No association was found between C677T SNP and A1298C SNP, and MTX level status (P&gt; 0.05). However, the variant alleles (T and C) were associated with the MTX toxic level (OR: 2.05, 95% CI [0.97 – 4.32]) and (OR: 1.99, 95% CI [0.96 – 4.18]) respectively. This study suggests that genetic polymorphisms of MTHFR SNP (C677T and A1298C) are associated with MTX efficacy but not toxicity in RA patients. This may assist the physicians in personalizing RA treatment in Iraqi patients.

Identification of the PLAG1 polymorphisms in Peranakan Ongole cattle population

Genetic factor plays a very important role in determining of cattle performance. A gene which is reported to be controlling cattle growth and body size is pleomorphic adenoma gene 1 (PLAG1). Therefore, the goal of this study was to identify PLAG1 polymorphisms in PO cattle population. A total of 43 unproductive PO cows from the slaughterhouse at Kebumen were used in this study. Blood samples were collected individually when the cattle were slaughtered. Furthermore, DNA genome was harvested from blood samples and used as DNA template for polymerase chain reaction (PCR) targeting g.48308 C>T, g.32212 (19 bp indel) and g.45233 T>C polymorphisms. g.48308 C>T and g.45233 T>C SNPs were genotyped using PCR-restriction fragment length polymorphism (PCR-RFLP) technique and a 19 bp indel of PLAG1 was directly genotyped by observing PCR products. Both allele and genotype frequencies were calculated to test Hardy-Weinberg equilibrium (HWE) status. The results showed that g.48308 C>T SNP and 19 bp indel varied. Three genotypes of the g.48308 C>T SNP namely CC, CT and TT were found in this study and two genotypes (DD and DI) of 19 bp indel were also identified. Moreover, heterozygous CT genotype frequency of g.48308 C>T SNP was 0.51 and T allele frequency was 0.60. In term of 19 bp indel, DD genotype frequency was 0.88 and D allele frequency was 0.94. In conclusion, two polymorphisms of the PLAG1 were identified in PO cattle population.

Association of KISS1 Gene SNPs (rs12998) With Endocrine Parameters in Iraqi women Polycystic Ovary Syndrome

background: (PCOS) is among the most common types of gynecological hormonal abnormalities and metabolic problems that have an impact females throughout adolescence, with a prevalence of 6-10%.Hyperandrogenism, unreliable menstrual periods, and polycystic ovaries are the hallmarks of PCOS. The (HPG) axis is controlled by kisspeptins, peptides made by the KISS1 gene.Objectives: This investigation's objective about used to be to analyze the affiliation of kiss1 Gene SNPs (rs 12998 ) with Endocrine Parameters in PCOS .Methodology: A case -control find out about enrolled one hundred sixty members of which eighty female have PCOS and eighty symbolize the manage crew who had-been interestingly healthful. Patients with PCOS had been chosen patients from our health center and the teaching hospital's gynecology and obstetrics department in Tikrit. Assessment of serum ( kisspeptin, estradiol ,LH, FSH and testosterone) used to be performed the use of ELISA approach and the maker company's provided methodology was followed to extract genomic DNA from whole blood. KISS1 Gene SNPs rs12998 T&gt;C gene polymorphisms was once detected by using (T-ARMS-PCR) method.Results: Findings indicate, the frequency of the kiss1 gene rs12998 CT and TT genotypes in PCOS-affected women increased 1.63-fold and 8.88-fold in comparison to the group of healthy women which have odds ratio (OR); 1.63 and 8.88, 95% [CI], 0.667-3.988 and 2.014-39.222; p-value 0.28 &amp; 0.01**), respectively. The levels of Kisspeptin, LH, and testosterone also differ.Conclusions: Our find out about suggests a greater awareness of Kisspeptin serum levels were observed in PCOS as in contrast with healthy as well, the frequency of homozygous allele (CC) used to be greater in patient 15 than in controls 3 whilst the frequency of heterozygous allele (CT) have been now not drastically distinct in PCOS fifty six much less than the controls sixty one The allelic frequency of SNP rs12998 C/T used to be detected extra regularly with significant affiliation in female with PCOS than in

Association of SRXN1 Receptor Gene Polymorphism with Susceptibility to Periodontitis.

Emerging evidence suggests that oxidative stress forms a key component in the etiopathogenesis of periodontitis. Literature evidence have shown potential antioxidants responsible for combating the pro-oxidants which stress the periodontium, but the peroxiredoxin-sulfiredoxin system is explored very minimally in periodontal disease. Thus, the present study was aimed to evaluate the genetic association of SRXN1 receptor gene polymorphism (rs6053666). A total of 100 subjects were recruited for this study, which included 50 Periodontitis patients (Stage II and above based on the criteria of American Association of Periodontology-2018) and 50 periodontally healthy or mild gingivitis. Genomic DNA was extracted from the whole blood collected from the subjects. DNA was amplified using specific primers flanking the BtgI region of the SRXN1 receptor gene. The amplicon was further subjected to genotyping using restriction fragment length using BtgI enzyme. The genotype obtained based on the restriction fragment length polymorphism pattern was recorded and used for statistical analysis. The distribution of genotypes and allele frequencies in the periodontitis and control groups were compared using the Chi-square test. The risk associated with individual alleles or genotypes was calculated as the odds ratio with 95% confidence intervals. Statistical significance in all tests was determined at P < 0.05. The genotype frequency and distributions of SRXN1 receptor BtgI polymorphism did not differ significantly at ꭕ2df (P = 0.557). Our study results showed that homozygous and heterozygous mutant genotypes had no significant difference (CC vs. CT + TT) between the periodontitis patients and control group with a P = 0.4266. The detected frequency of CT (38% vs. 34%) and TT (42% vs. 52%) genotype showed no significant difference between control and test group. There was no significant difference in C allele (39% vs. 31%) and T allele (61% vs. 69%) between the test and control group. The present study denotes that SRXN1 receptor gene polymorphism is not associated with periodontitis in the study group analyzed.

Association of MTHFR 677C>T polymorphism with breast cancer risk: A case-control study and meta-analysis.

Breast cancer is a complex, multifactorial disease that arises as a result of interactions between multiple genes and environmental factors. Methylenetetrahydrofolate reductase (MTHFR) is a low susceptibility gene, involved in folate metabolism. It assists in conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate which further leads to DNA methylation. 5,10-methylenetetrahydrofolate assists in conversion of uracil to thymine and purine synthesis for DNA synthesis. MTHFR 677C>T polymorphism alters the activity of MTHFR enzyme potentially effecting DNA repair and synthesis, hence a potential risk for cancer like breast cancer. Hence, the present study was conducted to evaluate association of MTHFR 677C>T polymorphism and breast cancer in Punjabi population. Moreover, a meta-analysis was conducted to address the same. A total of 247 breast cancer patients and 247 controls were selected from Punjabi population for analysis using PCR-RFLP method. For meta-analysis, 67 studies were selected, and allele contrast, homozygous, heterozygous, dominant, and recessive models were used to evaluate the association between MTHFR 677C>T and breast cancer. The frequencies of CC, CT, and TT genotype were 68.4% versus 74.5%, 28.7% versus 23.5%, and 2.9% versus 2.0% in patients and controls, respectively. There was no significant difference found. In meta-analysis, significant association was found in overall and Asian population while no significant association was found in Caucasians. MTHFR 677C>T polymorphism is not a risk factor for breast cancer in Punjabi population. Inconsistency with the meta-analysis can be due to ethnic diversity.

P127 Cytokine gene Polymorphism in superficial Malassezia associated skin diseases

Poster session 1, September 21, 2022, 12:30 PM - 1:30 PM Objectivesü To isolate and characterize Malassezia species from patients of Pityriasis Versicolor (PV), Atopic Dermatitis (AD), Seborrhoeic Dermatitis (SD), and healthy controls.ü To study single nucleotide polymorphism in IL-10 and IFN- γ genes of the host and its relation with susceptibility to Malassezia infection.MethodsIt was a prospective observational study done in University College of Medical Sciences and GTB Hospital, Delhi. Sample size comprised of 38 cases each of AD. Skin scrapings were used for fungal culture on Sabouraud Dextrose Agar (SDA) and Modified Dixon Agar (MDA) and isolates were identified as per conventional phenotypic methods. Genomic DNA was extracted from blood samples and Cytokine genotyping was carried out by Amplification Refractory Mutations System-Polymerase Chain Reaction (ARMS-PCR) with sequence-specific primers. Three SNPs (IL10-1082A/G; IL10-819/592C/T; IFN-g +874A/T) in two cytokine genes were assessed in all the patients and healthy controls. Chi-squared Test or Fisher's-Exact Test and Bonferroni's correction were used for statistical analysisResults Malassezia yeast was isolated in 94.7%, 63.1% each and 52.6% in PV, AD, SD, and healthy controls respectively. Malassezia globosa was the most commonly isolated species from both patient and healthy control. Malassezia sympodialis was the second most common followed by M. furfur and M. restricta. Association between specific cytokine gene polymorphism and clinical outcome was found to be significant in PV, AD, and SD group. IFN-γ +874 T allele and IFN-γ +874 A allele were significantly associated with PV and AD respectively. IFN-γ +874 AA genotype frequency was found to be higher in PV and AD patients than in controls. This finding suggests that PV and AD patients may produce a lower IFN-γ. IL10-819/592 C/T alleles were also significantly associated with PV. IL10-819/592 CT genotype frequency was found to be lower, and CC genotype frequency was found to be higher in PV patients as compared to healthy controls, suggesting that IL10 production may be higher in PV patients. AD patients were more likely to carry the IL10–1082 G allele and, it was significantly associated with this disease. Moreover, IL10-1082 AG genotype was significantly associated with AD and SD, which corresponds to high production of IL10.ConclusionThe identification of Malassezia yeast to a species level is of a great importance to determine which species are implicated in certain skin diseases.The use of phenotypic methods for identification of Malassezia species is a reliable, easily executed method, that is also inexpensive. Molecular methods are necessary to decrease the turnaround time, especially for slow-growing Malassezia species.Cytokine gene polymorphism studies in IL10 and IFN γ genes demonstrated susceptibility of host to Malassezia infections. Comparison with the serum cytokine levels will help in understanding the evolution of Malassezia infections in susceptible host.Population genetics studies require inclusion of a larger number of subjects to evaluate the probability or the frequency of occurrence of the genotype.

TLR 1,3 Receptor Gene Polymorphism in Egyptian Patients With Behcets Disease

Behçet’s disease (BD) is a multisystem inflammatory disease characterized by recurrent orogenital ulcerations, ocular inflammations, and skin lesions. The ethology of the disease is currently unknown but evidences suggested that there is a strong genetic component mediating the chronicity of the disorder. The disease is characterized by infiltration of lymphocytes and neutrophils into the affected organs. APCs (Antigen Presenting Cells): It express receptor called (TLR) Toll like receptor which are one of PRR (pattern recognition receptor) and essential components of the innate immune system and they are a class of proteins play a key role in the innate immune system ,recognize structurally conserved molecules derived from microbes. This study aimed at investigating the possible associations between two SNPs (Single Nucleotide Polymorphisms) at TLR1 gene and TLR3 gene and BD in 87 Egyptian patients with BD and 87 healthy controls. Methodology: Blood samples were collected and DNA extraction done. Genotyping of TLR1 gene (1805 T/G), and TLR3 gene (1377 C/T) were performed using (PCR-RFLP) and we found In TLR1 gene (1805 T/G) • Patients with BD had significantly lower frequency of TT genotype and significantly higher frequency of TG , GG genotypes than healthy control • Patients with arthritis had significantly lower frequency of TT &amp; TG, patients with activity had significantly lower frequency of GG genotype. • Patients with activity had significantly lower frequency of T allele, it might be protective allele and patients with arthritis had significantly lower frequency of G allele, it might be protective allele. In TLR3 gene (1377 C/T) • Patients with BD had significantly lower frequency of CC genotype and higher frequency of CT genotype than healthy control. • Patients with vascular involvement had significantly lower frequency of TT genotype. • BD patients with vascular involvement had significantly lower frequency of C allele than patients without involvement it might be protective allele. In conclusion, this preliminary study indicates that there are some genotypes in TLR1 gene (1805 T/G) ,and TLR3 gene (1377 C/T) over-represented , other less presented in BD indicating that they may play a role in BD susceptibility in Egyptian patients.

Associations between ATG16L1 gene polymorphism and antineutrophil cytoplasmic antibody-associated vasculitis in the Chinese Guangxi population: A case-control study.

BackgroundAntineutrophil cytoplasmic antibody (ANCA)‐associated vasculitis (AAV) is an autoimmune disease often accompanied by rapidly progressive renal failure, and the genetic background is still unknown. Our study was performed to test whether autophagy‐related 16 like 1 (ATG16L1) rs4663402 and rs4663396 single nucleotide polymorphisms (SNPs) were associated with AAV in the Chinese Guangxi population.MethodsOne hundred seventy seven unrelated AAV patients and 216 healthy controls were included in this case–control study. Multiplex polymerase chain reaction combined with high‐throughput sequencing was used for typing, and SNPStats and SHEsis were used for association analysis, pairwise linkage disequilibrium, and haplotype analysis.Resultsrs4663402 and rs4663396 were in Hardy–Weinberg equilibrium in AAV and control groups. The frequencies of rs4663402 AA, AT, and TT genotypes were 82.5%, 16.9%, and 0.6%, respectively, in patients with AAV, and 83.5%, 16.2%, and 0.5%, respectively, in controls. The frequencies of rs4663396 CC, CT, and TT genotypes were 63.8%, 33.9%, and 2.3%, respectively, in patients with AAV, and 69.2%, 26.6%, and 4.2%, respectively, in controls. Haplotype analysis revealed two SNPs in a single haplotype block (D′ = 1.0). Our logistic regression adjusted for sex and age showed no association between rs4663402 and rs4663396 and the risk for AAV in genetic models (p > 0.05). However, ATG16L1 rs4663396 CC and CT + TT genotypes exhibited statistically significant differences in the incidence of arthralgia (p = 0.03).ConclusionsOur results indicated that ATG16L1 rs4663402 and rs4663396 polymorphisms were not associated with AAV in the Chinese Guangxi population. ATG16L1 rs4663396 CT + TT genotype may be associated with arthralgia.

Autophagy-related 5 gene mRNA expression and ATG5 rs510432 polymorphism in children with bronchial asthma.

Bronchial asthma is a common chronic respiratory disease in children with complex pathogenesis, characterized by airway hyper-responsiveness, obstruction, mucus hyperproduction, and airway remodeling. Autophagy is important for cellular physiology, and the ATG5rs510432 has recently been implicated in several fundamental characteristics of childhood asthma pathogenesis and may play a role in the disease progression. This study aims to assess the expression of ATG5messenger RNA (mRNA)according to rs510432 polymorphism in asthmatic children and to evaluate their possible relation with the development of the disease. ATG5 mRNA expression and rs510432 polymorphism were measured using real-time polymerase chain reaction in 57 asthmatic children patients and 46 healthy controls. ATG5 level was significantly higher in asthmatic children than in controls and a significant increase in the frequency of TT and CC genotype of ATG5 rs510432 gene polymorphism was found in asthmatic patients when compared to control subjects (p &lt; 0.001; and p = 0.01, respectively), and there was a statistically significant decrease in the frequency of CT genotype of ATG5 rs510432 gene polymorphism in asthmatic patients when compared to control subjects (p &lt; 0.001). ATG5 rs510432 gene polymorphism plays an important role in childhood asthma pathogenesis.