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.

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.

Lack of association between lysyl oxidase-like 1 polymorphism in pseudoexfoliation syndrome and pseudoexfoliation glaucoma in North Indian population

2018 ◽  
Vol 29 (4) ◽  
pp. 431-436 ◽  
Author(s):  
Surinder Singh Pandav ◽  
Partha Chakma ◽  
Alka Khera ◽  
Neera Chugh ◽  
Parul Chawla Gupta ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Indian Population ◽  
Lysyl Oxidase ◽  
Pseudoexfoliation Syndrome ◽  
Nucleotide Polymorphisms ◽  
North Indian Population ◽  
Pseudoexfoliation Glaucoma ◽  
Chi Square ◽  
Single Nucleotide ◽  
Exon 1

Introduction:Pseudoexfoliation syndrome is commonly associated with pseudoexfoliation glaucoma. The two nonsynonymous single-nucleotide polymorphisms rs1048661 (R141L) and rs3825942 (G153D) within exon 1 of LOXL1 gene have been found to confer risk of pseudoexfoliation syndrome and pseudoexfoliation glaucoma in different geographical populations. This study aims to find association between two nonsynonymous single-nucleotide polymorphisms with pseudoexfoliation syndrome and pseudoexfoliation glaucoma in North Indian population.Methods:North Indian subjects clinically diagnosed with pseudoexfoliation syndrome/pseudoexfoliation glaucoma and normal age-matched control were enrolled in the study. Genomic DNA was extracted and the two single-nucleotide polymorphisms of LOXL1 gene were genotyped by polymerase chain reaction and sequencing. The association between single-nucleotide polymorphisms with pseudoexfoliation syndrome/pseudoexfoliation glaucoma was evaluated by chi-square test.Results:A total of 30 pseudoexfoliation glaucoma, 27 pseudoexfoliation syndrome and 61 control subjects were enrolled in the study. Patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma did not show any genetic association with either single-nucleotide polymorphism rs1048661 or rs3825942.Conclusion:The study shows lack of association between LOXL1 single-nucleotide polymorphisms and pseudoexfoliation in North Indian population.

scholarly journals Lack of association between common UGT2B nonsynonymous single-nucleotide polymorphisms and breast cancer in populations of African ancestry

2011 ◽  
Vol 130 (11) ◽  
pp. 2740-2742 ◽  
Author(s):  
Chang Sun ◽  
Dezheng Huo ◽  
Barbara Nemesure ◽  
Anselm Hennis ◽  
M. Cristina Leske ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphisms ◽  
African Ancestry ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

scholarly journals The role of functional polymorphisms in oxidative stress-related genes on early-stage breast cancer survival

2021 ◽  
pp. 172460082110111
Author(s):  
Erika Korobeinikova ◽  
Rasa Ugenskiene ◽  
Ruta Insodaite ◽  
Viktoras Rudzianskas ◽  
Jurgita Gudaitiene ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Overall Survival ◽  
Single Nucleotide Polymorphisms ◽  
Early Stage ◽  
Disease Free Survival ◽  
Early Stage Breast Cancer ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Free Survival ◽  
Disease Free

Background: Genetic variations in oxidative stress-related genes may alter the coded protein level and impact the pathogenesis of breast cancer. Methods: The current study investigated the associations of functional single nucleotide polymorphisms in the NFE2L2, HMOX1, P21, TXNRD2, and ATF3 genes with the early-stage breast cancer clinicopathological characteristics and disease-free survival, metastasis-free survival, and overall survival. A total of 202 Eastern European (Lithuanian) women with primary I–II stage breast cancer were involved. Genotyping of the single nucleotide polymorphisms was performed using TaqMan single nucleotide polymorphisms genotyping assays. Results: The CA+AA genotypes of P21 rs1801270 were significantly less frequent in patients with lymph node metastasis and larger tumor size ( P=0.041 and P=0.022, respectively). The TT genotype in ATF3 rs3125289 had significantly lower risk of estrogen receptor (ER), progesterone receptor (PR) negative, and human epidermal growth factor receptor 2 (HER2) positive status ( P=0.023, P=0.046, and P=0.040, respectively). In both, univariate and multivariate Cox analysis, TXNRD2 rs1139793 GG genotype vs. GA+AA was a negative prognostic factor for disease-free survival (multivariate hazard ratio (HR) 2.248; P=0.025) and overall survival (multivariate HR 2.248; P=0.029). The ATF3 rs11119982 CC genotype in the genotype model was a negative prognostic factor for disease-free survival (multivariate HR 5.878; P=0.006), metastasis-free survival (multivariate HR 4.759; P=0.018), and overall survival (multivariate HR 3.280; P=0.048). Conclusion: Our findings suggest that P21 rs1801270 is associated with lymph node metastasis and larger tumor size, and ATF3 rs3125289 is associated with ER, PR, and HER2 status. Two potential, novel, early-stage breast cancer survival biomarkers, TXNRD2 rs1139793 and ATF3 rs11119982, were detected. Further investigations are needed to confirm the results of the current study.

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