title: Protective association exhibited by the single nucleotide polymorphism (SNP) rs1052133 in the gene human 8-oxoguanine DNA glycosylase (hOGG1) with the risk of squamous cell carcinomas of the head & neck (SCCHN) among north Indians.
abstract: OBJECTIVE
  Imbalances in compactly regulated DNA repair pathways in the form of single nucleotide polymorphisms (SNPs) within vital DNA repair genes may result in insufficient DNA repair and increase in DNA breaks thus rendering the human system vulnerable to the debilitatory effects of grave diseases like cancers. The present study involves investigation of association of the non-synonymous SNP rs1052133 (C8069G/Ser326Cys) located in the exonic region of the gene human 8-oxoguanine DNA glycosylase (hOGG1) with the risk of squamous cell carcinomas of the head and neck (SCCHN).
  
  
  METHODS
  Case-control based genetic association study was performed among 575 (250 SCCHN cases and 325 normal healthy controls) sub-population cluster-matched (Indo-Europeans linguistic subgroup + Caucasoid morphological subtype) samples from the north Indian States of Uttar Pradesh and Uttarakhand using polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing analysis.
  
  
  RESULTS
  Our results demonstrated statistically significant protective association for the heterozygous CG [Odds Ratio (OR) 0.6587, 95% Confidence Interval (CI) 0.4615 to 0.9402, P=0.0238], homozygous mutant GG (OR 0.2570, 95% CI 0.1070 to 0.6175, P=0.0013) and combined mutant CG + GG (OR 0.6057, 95% CI 0.4272 to 0.8586, P=0.0059) genotypes.
  
  
  CONCLUSIONS
  The results indicate that the polymorphism rs1052133 is strongly associated with SCCHN susceptibility and the mutant (G) allele might be a protective factor for SCCHN among north Indian subpopulations.
authors: Toxicology Division, CSIR-Central Drug Research Institute, Lucknow, India.
authors: Amit Kumar
authors: AK
authors: Mitra
authors: Sarvendra Vikram
authors: SV
authors: Singh
authors: Vivek Kumar
authors: VK
authors: Garg
authors: Mandira
authors: M
authors: Sharma
authors: Rashmi
authors: R
authors: Chaturvedi
authors: Srikanta Kumar
authors: SK
authors: Rath
mesh_terms: D002277:Carcinoma / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D002294:Carcinoma, Squamous Cell; D016022:Case-Control Studies; D045647:DNA Glycosylases / Q000235:genetics*; D004260:DNA Repair; D030541:Databases, Genetic; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006258:Head and Neck Neoplasms / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007194:India; D018307:Neoplasms, Squamous Cell / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D000077195:Squamous Cell Carcinoma of Head and Neck
chemical_list: D045647:DNA Glycosylases; C479058:oxoguanine glycosylase 1, human