scholarly journals FOXO3a Gene Polymorphism Associated with Asthma in Indian Population

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Shravani Barkund ◽  
Tejas Shah ◽  
Nikhil Ambatkar ◽  
Maithili Gadgil ◽  
Kalpana Joshi
Keyword(s):  
Single Nucleotide Polymorphism ◽  
T Cell Activation ◽  
Cell Activation ◽  
Indian Population ◽  
Immunological Response ◽  
Chronic Obstructive ◽  
Inflammatory Disorder ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Chronic Inflammatory Disorder

Asthma is a chronic inflammatory disorder delineated by a heightened immunological response due to environmental or genetic factors. Single nucleotide polymorphism studies have shown that FOXO3a plays a pivotal role in maintaining immunoregulation. Polymorphism in FOXO3a has been linked to inflammatory diseases such as chronic obstructive pulmonary disease (COPD), Rheumatoid Arthritis, and Crohn’s disease suggesting that FOXO3a may be associated with asthma. Airway inflammation in asthma is characterized by activation of T helper type 2 (Th2) T cells and Foxo family members are reported to play critical roles in the suppression of T cell activation. Thus this study was undertaken to investigate an association between single nucleotide polymorphism of the FOXO3a (rs13217795, C>T transition) gene and asthma in Indian population. To our knowledge we are the first ones reporting an association between FOXO3a and asthma.

scholarly journals Polymorphism in the TP63 gene imparts a potential risk for leukemia in the North Indian population

2021 ◽  
Vol 21 (3) ◽  
pp. 1243-1249
Author(s):  
Amrita Bhat ◽  
Gh. Rasool Bhat ◽  
Sonali Verma ◽  
Ruchi Shah ◽  
Ashna Nagpal ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Indian Population ◽  
Taqman Assay ◽  
Genome Wide Association Studies ◽  
North Indian Population ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Jammu And Kashmir ◽  
The North

Background: The role of single nucleotide polymorphism rs10937405 (C>T) of the TP63 gene in cancer including leu- kemia has previously been studied in different world populations; however, the role of this variant in leukemia in the North Indian population of Jammu and Kashmir is still unknown. Objectives: In the present study, we investigated the association of genetic variant rs10937405 with leukemic in the Jammu and Kashmir population. Methods: A total of 588 subjects, (188 cases and 400 controls) were recruited for the study. The rs10937405 variant was genotyped by using the real-time based TaqMan assay. Results: A statistically significant association was observed between the rs10937405 and leukemia [OR of 1.94 (95% CI 1.51-2.48), p=1.2x10-6]. Conclusion: The current study concludes that the rs10937405 variant is a risk factor for the development of leukemia in the population of Jammu and Kashmir, North India. However, it would be interesting to explore the contribution of this variant in other cancers as well. Our findings will help in the development of diagnostic markers for leukemia in the studied population and potentially for other North Indian populations. Keywords: Single Nucleotide Polymorphism (SNPs); Leukemia; North Indian population; Tumour suppressor (TP63); Linkage Disequilibrium (LD); Genome wide association studies (GWAS); Jammu and Kashmir (J &K).

scholarly journals Association of Single Nucleotide Polymorphism rs11172113 of LRP1 Gene with Migraine in South Indian Population – A Study

Helix ◽  
2020 ◽  
Vol 10 (3) ◽  
pp. 7-11
Author(s):  
Gouri Srinivasan ◽  
Uddanapalli Sreeramulu Shoba ◽  
Jyothsna Gundlapally ◽  
Kumaresan Kuppamuthu
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Indian Population ◽  
South Indian Population ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
South Indian

Association of BTNL2 gene single nucleotide polymorphism with knee osteoarthritis

2021 ◽  
Vol 25 (2) ◽  
pp. 89-95
Author(s):  
S. S. Sahoo ◽  
O. K. Choudhari ◽  
J. Bhadra ◽  
B. C. Kabi
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Knee Osteoarthritis ◽  
Indian Population ◽  
Amplification Refractory Mutation System ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Genotypic Distribution ◽  
Mutation System ◽  
Hardy Weinberg Equilibrium

Relevance. Osteoarthritis (OA) is one of the chronic debilitating condition mostly seen in the aged population. The etiology behind the OA is multifactorial and the exact cause of the disease often remains uncertain. Apart from the conventional risk factors, there are the speculations of role of genetics playing a pivotal role in the causation of OA. The available literature showed BTNL2 gene polymorphism association with risk of Osteoarthritis whether the same relation is present in north Indian population needs to be elucidated. Objective. To find the association between single nucleotide polymorphism (SNP) (rs10947262) in BTNL2 gene and the susceptibility in knee Osteoarthritis (OA) subjects from northern Indian population. Materials and Methods. Blood samples of 100 patients of knee osteoarthritis and 100 healthy subjects were collected after institutional ethical clearance and participants consent. The BTNL2 gene fragment was amplified using Amplification Refractory Mutation System (ARMS-PCR) with predesigned primers after DNA extraction. The corresponding product bands were identified on the gel electrophoresis for 200 samples and the results were statistically analyzed. Results and Discussion. The genotypic distribution of the SNP followed Hardy-Weinberg Equilibrium. The genotype frequency analysis of the polymorphism was statistically significant (2=7.788; P=0.005) with Odds Ratio of CT+TT/CC: OR=2.303; P=0.008 revealing association of BTNL2 polymorphism with risk of Knee Osteoarthritis. Conclusion. The SNP (rs10947262) in the BTNL2 gene region is associated with risk of knee osteoarthritis.

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