GENETIC ASSOCIATION OF IL-17A GENE POLYMORPHISM (rs2275913) WITH SUSCEPTIBILITY TO ORAL CANCER - A CASE CONTROL STUDY IN SOUTH INDIAN POPULATION

Genetic variation in IL-6 rs1800796 and its association with non-Hodgkin lymphoma susceptibility in the Egyptian population

Immunological Consequences of rs5742621 Variant and IGF-1 in Modulating MIF, IL-27, and CXCL12 Expression in Individuals with Prostate Cancer

The GA genotype of rs5742621 was significantly associated with elevated IGF-1 levels and increased PCa risk, promoting cell proliferation, inhibiting apoptosis, and accelerating tumor growth.

IL-10 promoter polymorphisms (-1082G > A,-819C > Tand - 592 C > A) and pediatric asthma susceptibility in a Mauritanian population.

BACKGROUND Interleukin-10 (IL-10) is a key immunoregulatory cytokine implicated in asthma pathogenesis. This case-control study investigated the association of three IL-10 promoter polymorphisms (-1082 G > A, -819 C > T, and -592 C > A) with asthma susceptibility and immune cell profiles in a Mauritanian pediatric population. METHODS Fifty-four asthmatic children and 45 controls were genotyped by PCR-RFLP and Sanger sequencing. Allele/genotype frequencies were compared by chi-square test, haplotypes by Haploview, and IgE, leukocyte, and platelet counts were analyzed using non-parametric tests. RESULTS The -592 C > A polymorphism was significantly associated with asthma, with the A allele more frequent in cases and the CA genotype increasing risk. The -1082 G > A polymorphism showed a significant genotype association, with the GA genotype protective and the AA genotype observed only in cases. The ACG haplotype showed a trend toward increased risk.Asthmatic children exhibited higher IgE levels, neutrophil and basophil percentages, and lower lymphocyte, monocyte, and platelet counts. The -1082 G > A variant was associated with neutrophils and monocytes in the overall population. Stratified analysis revealed disease-specific effects: -819 C > T influenced monocytes in cases, while -592 C > A affected eosinophils in controls. CONCLUSION IL-10 promoter polymorphisms, particularly -592 C > A, are significantly associated with pediatric asthma susceptibility, with -1082 G > A showing an additional protective effect. Asthmatic children display a mixed inflammatory profile of elevated neutrophils and basophils alongside reduced lymphocytes and monocytes. The -1082 G > A, -819 C > T, and -592 C > A variants show immunomodulatory effects on leukocyte composition in a disease-context-dependent manner. Replication in larger cohorts with functional IL-10 measurements is warranted.

three common IL-17 single nucleotide polymorphisms on the risk of developing gastric cancer

Association of TGFA gene polymorphisms (rs11466297 and rs3732248) with polycystic ovary syndrome (PCOS): a case-control study.

OBJECTIVES Polycystic ovary syndrome (PCOS) is a complicated endocrine condition that causes ovarian dysfunction, metabolic problems, and hormonal irregularities. Genetic factors profoundly affect its pathogenesis. This study investigates the association between polymorphisms in the Transforming Growth Factor Alpha (TGFA) gene, specifically rs11466297 and rs3732248, and the risk of PCOS. METHODS We conducted a case-control study involving 200 individuals confirmed to have PCOS and 200 control subjects. We used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and Amplification Refractory Mutation System (ARMS-PCR) procedures to genotype the TGFA SNPs rs11466297 A/C and rs3732248 G/A. We performed statistical analyses, including odds ratios (OR) and 95% confidence intervals (CI), to evaluate the relationship between the polymorphisms and the risk of PCOS. RESULTS Genotypic analysis revealed that the TGFA rs3732248 GA heterozygote was significantly associated with increased PCOS risk under the codominant model (OR = 2.16, 95% CI: 1.39-3.32, p < 0.001), dominant model (OR = 1.77, 95% CI: 1.18-2.65, p = 0.013), and overdominant model (OR = 2.26, 95% CI: 1.47-3.45, p = 0.001). All associations remained significant after Bonferroni correction (p < 0.025). For rs11466297, no significant association survived correction. PCOS patients had significantly higher BMI, waist circumference, total cholesterol, and triglycerides compared to controls (p < 0.001 for all). Haplotype analysis revealed no significant association between TGFA haplotypes and PCOS risk. CONCLUSION This study is the first to demonstrate that the TGFA rs3732248 polymorphism is significantly associated with PCOS susceptibility in an Iranian population. These findings provide novel genetic evidence supporting a role for TGFA in PCOS pathogenesis and warrant replication in larger independent cohorts.

Prevalence of IL12B rs3212227 Polymorphism in Patients With Plaque Psoriasis From Guatemala 2310585

Psoriasis is an immune-mediated and inflammatory disease in which the IL-12/IL-23 axis plays a key role. The IL12B gene encodes the p40 subunit shared by both cytokines and has been implicated in the differentiation of Th1 and Th17. The single nucleotide polymorphism rs3212227 in IL12B has been associated with psoriasis and psoriatic arthritis in Caucasian populations, with inconsistent findings in Hispanic populations. No prior studies have described the prevalence of this polymorphism in Guatemalan patients with psoriasis. An observational and descriptive study was conducted in adult patients with plaque psoriasis attending a tertiary referral center in Guatemala. Clinical data were collected, including disease severity assessed by PASI and evaluation for psoriatic arthritis using CASPAR criteria. Genomic DNA was extracted from peripheral blood samples. The rs3212227 polymorphism was identified using polymerase chain reaction followed by Sanger sequencing. Descriptive statistics were used to summarize clinical characteristics and genotype and allele frequencies. Exploratory analyses were performed to assess relationships between genotype and clinical variables. Thirty-five patients were enrolled, of whom nine yielded sequencing of sufficient quality for genotyping. Genotype frequencies were 88.9% for TT and 11.1% for GG, with a G allele frequency of 11.1%. The mean PASI score was 13.3 ± 8.4. Twelve patients met criteria for psoriatic arthritis. No statistically significant associations were observed between the rs3212227 genotype and clinical variables. In this cohort of Guatemalan patients with plaque psoriasis, the IL12B rs3212227 polymorphism was infrequent. Although limited sequencing yield restricted genotype-phenotype analysis, the detection of the G allele confirms its presence in the Guatemalan population and supports the need for larger studies to further characterize IL12B polymorphism in psoriasis within Central America. Universidad Francisco Marroquín (partial institutional support for molecular biology consumables) Immune Mechanisms of Human Disease (HUM)