scholarly journals ASSOCIATION OF A DISINTEGRIN AND METALLOPROTEASE 33 GENE POLYMORPHISMS AND THEIR HAPLOTYPES WITH ASTHMA IN THE NORTH‑INDIAN POPULATION

2016 ◽  
Vol 68 (1) ◽  
pp. 54 ◽  
Author(s):  
Shally Awasthi ◽  
Priya Tripathi ◽  
Rajendra Prasad ◽  
Subramanian Ganesh
Keyword(s):  
Gene Polymorphisms ◽  
Positional Cloning ◽  
Indian Population ◽  
Nucleotide Polymorphisms ◽  
North Indian Population ◽  
Single Nucleotide ◽  
The North ◽  
Risk Of Disease ◽  
Adjusted Logistic Regression ◽  
And Gender

<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>

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).

Association study of functional polymorphisms of DNMT3A and DNMT3B genes with breast carcinoma in north Indian population

2015 ◽  
Vol 5 (4) ◽  
pp. 121-126
Author(s):  
Shruti Singh ◽  
Kiran Singh ◽  
Manisha Sachan
Keyword(s):  
Breast Cancer ◽  
Breast Carcinoma ◽  
Single Nucleotide Polymorphisms ◽  
Indian Population ◽  
De Novo ◽  
Nucleotide Polymorphisms ◽  
North Indian Population ◽  
Single Nucleotide ◽  
Functional Polymorphisms ◽  
Genotype Frequencies

  DNMT3A and DNMT3B are de novo methyltransferases which are responsi-ble for de novo methylation patterns of the unmethylated DNA. Two Single nucleotide polymorphisms (SNPs) in these genes i.e. -448A>G in DNMT3A and C46359T in DNMT3B, contribute a lot to the genetic susceptibility to breast cancer. In the present study, we analyzed the genotype frequencies of -448A>G polymorphism of DNMT3A and C46359T polymorphism of DNMT3B in breast cancer patients and healthy control subjects to explore the associa-tion of these single nucleotide polymorphisms with susceptibility to develop breast carcinoma. Genotyping was done by PCR-RFLP. 74 patients and 76 controls were genotyped for the DNMT3A (-448A>G) SNP, whereas 72 pa-tients and 107 controls were screened for DNMT3B (C46359T) polymor-phism. Our study clearly suggest that compared to GG carriers, the DNMT3A-448AA homozygotes had a 2.92 fold risk of developing breast carcinoma whereas for DNMT3B (C46359T) polymorphism, CT & CT+CC genotype carri-ers showed a 1.32 & 1.23 fold risk of developing breast carcinoma respec-tively. In Conclusion, DNMT3A SNP -448A>G contributes to genetic suscepti-bility to breast carcinoma whereas DNMT3B SNP C46359T was not found to be associated with pathogenesis of breast cancer in north Indian population.

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
Keyword(s):  
Pilot Study ◽  
Indian Population ◽  
Study Groups ◽  
Human Longevity ◽  
Main Body ◽  
North Indian Population ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
The North ◽  
Forkhead Box

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.

Association of ITGAM, TNFSF4, TNFAIP3 and STAT4 gene polymorphisms with risk of systemic lupus erythematosus in a North Indian population

Lupus ◽  
2018 ◽  
Vol 27 (12) ◽  
pp. 1973-1979 ◽  
Author(s):  
V Gupta ◽  
S Kumar ◽  
A Pratap ◽  
R Singh ◽  
R Kumari ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Single Nucleotide Polymorphisms ◽  
Lupus Erythematosus ◽  
Indian Population ◽  
Recessive Model ◽  
Nucleotide Polymorphisms ◽  
North Indian Population ◽  
Systemic Lupus ◽  
Single Nucleotide ◽  
Different Populations

Several susceptibility genes have been associated with systemic lupus erythematosus (SLE) across different populations worldwide. However, data on association between genetic polymorphisms and SLE from Indian population is scarce. We aimed to replicate the association of single nucleotide polymorphisms (SNPs) in ITGAM, TNFSF4, TNFAIP3 and STAT4 genes with susceptibility to SLE in a North Indian population. Three hundred and ninety-four SLE patients and 583 unrelated healthy controls of the same ethnic background were enrolled. All samples were genotyped for SNPs in ITGAM (rs1143679), TNFSF4 (rs2205960), TNFAIP3 (rs5029939) and STAT4 (rs7574865) using TaqMan genotyping assay. At allele level, significant association with susceptibility to SLE was detected with polymorphisms in ITGAM (A vs. G, odds ratio (OR) = 1.73, 95% confidence interval (CI) = 1.30–2.30, p < 0.001), TNFSF4 (T vs. G, OR = 1.33, 95% CI = 1.08–1.64, p < 0.01), TNFAIP3 (G vs. C, OR = 1.91, 95% CI = 1.27–2.85, p < 0.01) and STAT4 (T vs. G, OR = 1.38, 95% CI = 1.13–1.69, p < 0.01). All four SNPs were associated with SLE under a dominant model with an OR of 1.47 (95% CI = 1.07–2.04, p < 0.05) for ITGAM, 1.30 (95% CI = 1.01–1.69, p < 0.05) for TNFSF4, 1.90 (95% CI = 1.25–2.90, p < 0.01) for TNFAIP3 and 1.38 (95% CI = 1.06–1.78, p < 0.05) for STAT4. Under a recessive model, significant association was found with ITGAM (OR = 4.87, 95% CI = 2.17–10.91, p < 0.001), TNFSF4 (OR = 1.84, 95% CI = 1.13–3.00, p < 0.05) and STAT4 (OR = 1.82, 95% CI = 1.19–2.77, p < 0.01). In conclusion, single nucleotide polymorphisms in ITGAM, TNFSF4, TNFAIP3 and STAT4 genes are associated with susceptibility to SLE in a North Indian population.

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