scholarly journals rs2253310 and rs4946936 common variants of FOXO3 gene in octogenarians and cancer: a pilot study in north India

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Neelam Tia ◽  
Moti Lal ◽  
I. S. Gambhir

Abstract Background Healthy aging perceives human longevity probably due to carrying the defensive genes. Forkhead box O (FOXO) transcription factors provide the most convincing example of a conserved genetic pathway at the point between aging and cancer. This pilot study was performed to examine the single nucleotide variants rs2253310 and rs4946936 of the Forkhead box O 3 (FOXO3 gene) in octogenarians and gastrointestinal tract (GIT) cancer patients in the north Indian population. Main body In silico mutational analysis of the FOXO3 gene in 25 participants. Two single nucleotide variants (SNVs) g.7556C>G (rs2253310) heterozygous and g.122284T>C (rs4946936) homozygous observed and reported previously. However, there is a common association of these SNVs in different ethnic groups. No significant differences in the genotype and allele frequencies for the study groups observed. Short conclusion This study observes two single nucleotide variants, g.7556C>G (rs2253310) and g.122284T>C (rs4946936), of the FOXO3 gene in the study groups which influence human longevity. Longevity-associated FOXO3 variants may be associated with GIT cancer in the north Indian population. As a result, looking for genes linked to longevity will lead to discovering new cancer targets. Further studies with a large population are necessary to elucidate the role of the FOXO3 gene in octogenarians.

2021 ◽  
Vol 21 (3) ◽  
pp. 1243-1249
Author(s):  
Amrita Bhat ◽  
Gh. Rasool Bhat ◽  
Sonali Verma ◽  
Ruchi Shah ◽  
Ashna Nagpal ◽  
...  

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).


2016 ◽  
Vol 68 (1) ◽  
pp. 54 ◽  
Author(s):  
Shally Awasthi ◽  
Priya Tripathi ◽  
Rajendra Prasad ◽  
Subramanian Ganesh

<p><strong>AIMS, SETTINGS, AND DESIGN:</strong> A disintegrin and metalloprotease 33 (ADAM33), was the first identified asthma‑susceptible gene by positional cloning. A case‑control study was performed. We investigated: (1) Association of ADAM33 gene polymorphisms (V2 C/T, T2 A/G, T1 A/G, Q‑1 A/G, BC+1 A/G and S1 A/G) with asthma and its severity. (2) The distribution of ADAM33 gene polymorphisms’ haplotypes in the studied population and their association with the risk of asthma. <strong>SUBJECTS AND METHODS:</strong> Using polymerase chain reaction and restriction fragment length polymorphism, six polymorphic sites V2 (C/T), T2 (A/G), T1 (A/G), BC+1 (A/G), Q‑1 (A/G), and S1 (A/G) were genotyped in 390 controls and 386 cases of asthma to investigate their association with asthma. Among the recruited cases, 95 (24.6%) were mild intermittent, 235 (60.9%) were mild persistent and 56 (14.5%) were moderate persistent. <strong>STATISTICAL ANALYSIS USED:</strong> The whole analysis was age‑ and gender‑adjusted. Logistic regression model was used to find out the contribution of genetic polymorphisms to the risk of disease. <strong>RESULTS AND CONCLUSION:</strong> We found statistically significant association of single nucleotide polymorphisms (SNPs) T1, S1, and T2 with asthma; however, none of the SNPs were found to be associated with the severity of asthma. GTGGGG haplotype was associated with the risk of asthma (Odds ratio = 4.40; P &lt; 0.0001). In conclusion, results suggest the importance of ADAM33 SNPs with asthma in the North‑Indian population.</p>


2018 ◽  
Vol 34 (3) ◽  
pp. 281-285 ◽  
Author(s):  
Surabhi Yadav ◽  
Salman Akhtar ◽  
Surendra K. Agarwal ◽  
Gauranga Majumdar ◽  
Suman Vimal ◽  
...  

2021 ◽  
Vol 12 (1) ◽  
pp. 13
Author(s):  
Swati Kapoor ◽  
AjitKumar Jaiswal ◽  
Girish Chaudhary ◽  
Abhimanyu Kochhar ◽  
JasmeetKaur Ryait ◽  
...  

2012 ◽  
Vol 42 (5) ◽  
pp. 151 ◽  
Author(s):  
Anika Daing ◽  
Sarvendra Vikram Singh ◽  
Charanjeet Singh Saimbi ◽  
Mohammad Akhlaq Khan ◽  
Srikanta Kumar Rath

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