
ADITI BHOWMIK
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Kashif Ali
Comsats University Islamabad
A Syed Sameer
Sher-i-Kashmir Institue Of Medical Sciences,soura,srinagar-190011,india
Erdem Coskun
National Institute of Standards and Technology
sambuddha das
ASSAM UNIVERSITY (Diphu Campus)
Balraj Mittal
Sanjay Gandhi Postgraduate Institute of Medician Sciences, Lucknow
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and polymorphism at promoter region of 5′ untranslated region (5′-UTR) of the Ataxia-telangiectasia mutated
(ATM) gene. However the results were contentious rather than conclusive. The current study was aimed
at evaluating the association between the SNP (rs189037 G>A) and the risk of head and neck cancer and lung
cancer by conducting ameta-analysis. A total of 9 case–control studieswere considered for this quantitative analysis.
Stats Direct Statistical software (version 2.7.2)was used to evaluate the crude odds ratio (OR) with their 95%
confidence interval (CI). The dominant model (GG vs. GA+ AA) showed no heterogeneity and the fixed effects
pooled OR was found to be significant (OR = 1.14, 95% CI = 1.05–1.25) at p = 0.003. The pooled OR for fixed
effects of heterozygote and homozygote mutant allele (GA vs. AA) model was significant (OR = 1.17, 95% CI =
1.04–1.30, p=0.006) and no heterogeneity was observed for this model. The current meta-analysis manifested
that ATM rs189037 G>A genetic polymorphismmay contribute increased risk of head and neck and lung cancer.
Moreover, the AA mutant allele was found to be related significantly with the prognosis of lung cancer and head
and neck cancer
one another as well as with various etiologic habits in determining HNC risk in a Northeast Indian population.
Materials and Methods: Genotyping at 309 MDM2 and 72 TP53 in 122 HNC patients and 86 cancer free healthy
controls was performed by PCR using allele specific primers, and the results were confirmed by DNA sequencing.
Results: Individuals with the GG mutant allele of MDM2 showed a higher risk for HNC in comparison to those with the TT wild type allele (OR=1.9, 95%CI: 1.1-3.3) (p=0.022). The risk was further increased in females by ~4-fold (OR=4.6, 95% CI: 1.1-19.4) (P=0.04). TP53 polymorphism did not contribute to HNC risk alone; however, interaction between the TP53 GC and MDM2 GG genotypes resulted in significant risk (OR=4.9, 95%
CI: 0.2-105.1) (p=0.04). Smokers, BQ- chewers and alcohol consumers showed statistically significant and dosedependent
increase in HNC risk, irrespective of the MDM2 genotype. Conclusions: MDM2 genotype could serve as an important predictive biomarker for HNC risk in the population of Northeast India.
the DNA repair gene polymorphisms XPD Asp312Asn
(G>A), APE1 Asp148Glu (T>G), and MUTYH Tyr165Cys
(G>A) on the risk for head and neck cancer (HNC) in association
with tobacco use in a population of Northeast India. The
study subjects comprised of 80 HNC patients and 92 healthy
controls. Genotyping was performed using amplification refractory
mutation system—PCR (ARMS-PCR) for XPD
Asp312Asn (G>A) and PCR using confronting two-pair
primers (PCR-CTPP) for APE1 Asp148Glu (T>G) and
MUTYH Tyr165Cys (G>A). The XPD Asp/Asn genotype increased
the risk for HNC by 2-fold (odds ratio, OR=2.072;
95 % CI, 1.025–4.190; p<0.05). Interaction between APE1
Asp/Asp and XPD Asp/Asn as well as MUTYH Tyr/Tyr and
XPD Asp/Asn genotypes further increased the risk by 2.9
(OR=2.97; 95 % CI, 1.16–7.61; p<0.05) and 2.3 (OR=
2.37; 95 % CI, 1.11–5.10; p<0.05) folds, respectively. The
risk was further increased in heavy smokers with the XPD
Asp/Asn genotype and heavy tobacco chewers with XPD
Asn/Asn genotype by 7.7-fold (OR=7.749; 95 % CI, 2.53–
23.70; p<0.05) and 10-fold (OR=10; 95 % CI, 1.26–79.13;p<0.05), respectively. We thus conclude that the XPD
Asp312Asn and APE1 Asp148Glu polymorphisms increase
the risk for HNC in association with smoking and/or tobacco
chewing in the population under study.
and polymorphism at promoter region of 5′ untranslated region (5′-UTR) of the Ataxia-telangiectasia mutated
(ATM) gene. However the results were contentious rather than conclusive. The current study was aimed
at evaluating the association between the SNP (rs189037 G>A) and the risk of head and neck cancer and lung
cancer by conducting ameta-analysis. A total of 9 case–control studieswere considered for this quantitative analysis.
Stats Direct Statistical software (version 2.7.2)was used to evaluate the crude odds ratio (OR) with their 95%
confidence interval (CI). The dominant model (GG vs. GA+ AA) showed no heterogeneity and the fixed effects
pooled OR was found to be significant (OR = 1.14, 95% CI = 1.05–1.25) at p = 0.003. The pooled OR for fixed
effects of heterozygote and homozygote mutant allele (GA vs. AA) model was significant (OR = 1.17, 95% CI =
1.04–1.30, p=0.006) and no heterogeneity was observed for this model. The current meta-analysis manifested
that ATM rs189037 G>A genetic polymorphismmay contribute increased risk of head and neck and lung cancer.
Moreover, the AA mutant allele was found to be related significantly with the prognosis of lung cancer and head
and neck cancer
one another as well as with various etiologic habits in determining HNC risk in a Northeast Indian population.
Materials and Methods: Genotyping at 309 MDM2 and 72 TP53 in 122 HNC patients and 86 cancer free healthy
controls was performed by PCR using allele specific primers, and the results were confirmed by DNA sequencing.
Results: Individuals with the GG mutant allele of MDM2 showed a higher risk for HNC in comparison to those with the TT wild type allele (OR=1.9, 95%CI: 1.1-3.3) (p=0.022). The risk was further increased in females by ~4-fold (OR=4.6, 95% CI: 1.1-19.4) (P=0.04). TP53 polymorphism did not contribute to HNC risk alone; however, interaction between the TP53 GC and MDM2 GG genotypes resulted in significant risk (OR=4.9, 95%
CI: 0.2-105.1) (p=0.04). Smokers, BQ- chewers and alcohol consumers showed statistically significant and dosedependent
increase in HNC risk, irrespective of the MDM2 genotype. Conclusions: MDM2 genotype could serve as an important predictive biomarker for HNC risk in the population of Northeast India.
the DNA repair gene polymorphisms XPD Asp312Asn
(G>A), APE1 Asp148Glu (T>G), and MUTYH Tyr165Cys
(G>A) on the risk for head and neck cancer (HNC) in association
with tobacco use in a population of Northeast India. The
study subjects comprised of 80 HNC patients and 92 healthy
controls. Genotyping was performed using amplification refractory
mutation system—PCR (ARMS-PCR) for XPD
Asp312Asn (G>A) and PCR using confronting two-pair
primers (PCR-CTPP) for APE1 Asp148Glu (T>G) and
MUTYH Tyr165Cys (G>A). The XPD Asp/Asn genotype increased
the risk for HNC by 2-fold (odds ratio, OR=2.072;
95 % CI, 1.025–4.190; p<0.05). Interaction between APE1
Asp/Asp and XPD Asp/Asn as well as MUTYH Tyr/Tyr and
XPD Asp/Asn genotypes further increased the risk by 2.9
(OR=2.97; 95 % CI, 1.16–7.61; p<0.05) and 2.3 (OR=
2.37; 95 % CI, 1.11–5.10; p<0.05) folds, respectively. The
risk was further increased in heavy smokers with the XPD
Asp/Asn genotype and heavy tobacco chewers with XPD
Asn/Asn genotype by 7.7-fold (OR=7.749; 95 % CI, 2.53–
23.70; p<0.05) and 10-fold (OR=10; 95 % CI, 1.26–79.13;p<0.05), respectively. We thus conclude that the XPD
Asp312Asn and APE1 Asp148Glu polymorphisms increase
the risk for HNC in association with smoking and/or tobacco
chewing in the population under study.