Influence of genetic variants and mRNA expression of interleukin IL17A gene in asthma susceptibility.

Asthma is a chronic respiratory disease characterized by coughing, wheezing, shortness of breath, chest tightness, overproduction of mucus, and expiratory airflow limitation, which affects >300 million people worldwide. It is triggered by the dynamic interplay of genetic factors and environmental exposure. Th17 cells are an emerging subset of CD4+ T cells, which secrete IL-17A.

Association analysis of FMR1 genetic variants and primary ovarian insufficiency in South Indian women with a novel approach of CGG repeats classification.

Around 20-28% of FMR1gene CGG premutation (PM) carriers are at augmented risk towards an infertility related disorder, Fragile X-associated primary ovarian insufficiency (FXPOI). Except the effect of CGG repeats, reports are not available on the mechanism through which the cis-acting variations, namely, SNPs involved in POI susceptibility. Addressing the hypothesis that the FMR1 gene polymorphisms [CGG repeats, rs25731(T > A) and rs4949(A > G)] might increase their individual and combined impact in disease predisposition, we tested the genetic variants in 200 south Indian DNA samples consists of 100 patients and 100 healthy volunteers.

Association of CDKN2BAS gene polymorphism with periodontitis and Coronary Artery Disease from South Indian population.

Background: Periodontal disease (PD), a chronic inflammatory disorder mediated by progressive destruction of the oral cavity is one of the key factors for many systemic disorders including Coronary Artery Disease (CAD). The upregulation of CDKN2BAS, a long noncoding RNA gene expression in gingival epithelial cells and gingival fibroblasts of periodontitis shows a strong correlation between the severity of atherosclerosis and PD. Considering the crucial role of CDKN2BAS gene polymorphisms (rs496892 G > A and rs7865618 A > G) and its expression the present study sought to identify the possible association with the disease predisposition in South Indian population.

CTLA-4 Genetic Variants (rs11571317 and rs3087243): Role in Susceptibility and Progression of Breast Cancer.

Background: Dysfunctional regulation at immune checkpoints may lead to escape of the tumor cells and gives a scope to set in the unresolved Breast cancer (BC). The major anti-tumor retort is cell-mediated response which involves T lymphocytes. CTLA-4 (Cytotoxic T lymphocyte associated protein-4) with immune suppressive function and tolerance is associated with various autoimmune diseases and cancers including BC.

Association of IFN-γ : IL-10 Cytokine Ratio with Nonsegmental Vitiligo Pathogenesis.

Background and Objectives. Cytokines regulate immune response and inflammation and play a crucial role in depigmentation process of vitiligo. The present study aimed to estimate the serum levels of pro- and anti-inflammatory cytokines, IFN-γ and IL-10, and their ratios in nonsegmental vitiligo patients and healthy individuals from India.

A study on the role of HLA-G 14bp and ACE IN/DEL polymorphisms in pre-eclamptic South Indian women.

Pre-eclampsia (PE) is a pregnancy specific syndrome characterized by hypertension and proteinuria. Defective placentation during early stages of pregnancy in combination with maternal and environmental factors could lead to systemic inflammation, endothelial dysfunction and the manifestation of the clinical symptoms. HLA-G is considered essential for feto-maternal immune tolerance and successful placentation in pregnancy.

Association of FOXP3 (rs3761548) promoter polymorphism with nondermatomal vitiligo: A study from India.

Background: The rs3761548 polymorphism (-3279 C>A) of FOXP3 gene is associated with several autoimmune disorders.

Objective: We sought to determine whether rs3761548 polymorphism is associated with nondermatomal vitiligo in Indian subjects.

Methods: Genomic DNA was isolated from blood samples of 303 patients and 305 control subjects and genotyping was done by allele-specific primers.

Angiotensin converting enzyme (ACE) gene polymorphism in vitiligo: protective and predisposing effects of genotypes in disease susceptibility and progression.

Vitiligo is a depigmenting skin disorder with profound heterogenity in its aetio-pathophysiology, and is associated with inter-individual variation in progression of disease. Angiotensin converting enzyme (ACE) is a regulator of renin angiotensin system (RAS) that plays an important role in the physiology of the vasculature, blood pressure, inflammation, adipocyte distribution of various diseases. The present study was carried out in 243 vitiligo patients (132 males and 111 females), aged between 3-62 years with a mean age at onset of 21.