title: Molecular analysis of imperative polymorphisms of MLH1 gene in sporadic colorectal cancer.
abstract: BACKGROUND
  Single nucleotide polymorphisms in mismatch repair genes may be associated with different protein expression, production, and efficiency according to allele status and influence the risk of developing colorectal cancer.
  
  
  OBJECTIVE
  This research aimed at analyzing two important polymorphisms in MLH1 gene and their association in colorectal cancer susceptibility.
  
  
  METHODS
  In total, 219 CRC patients and 248 healthy controls were genotyped with PCR/RFLP for I219V and IVS12-169 C>T polymorphisms in MLH1 gene. Sequencing performed to ensure work flow and results. We used unconditional logistic regression after adjusting for age and sex to evaluate the association between each polymorphism and colorectal cancer.
  
  
  RESULTS
  The MLH1 I219V polymorphism was associated with colorectal cancer susceptibility (P=0.01). Stratified data analysis for gender demonstrated association of AG (P=0.009) and GG (P=0.021) genotypes with risk of colorectal cancer in women. In contrast there is no association with IVS 12-169 C>T polymorphism and colorectal cancer risk.
  
  
  CONCLUSIONS
  I219V SNP might be a susceptibility factor for CRC and gender is a factor that must be considered when it is analyzing. Further tests need to be done to define it as a dependable prognosis factor.
authors.forename: Saman
authors.initials: S
authors.lastname: Milanizadeh
authors.affiliation: Gastroenterology and Liver Disease Research Center, Shahid Beheshti University of Medical Science, Tehran, Iran.
authors.forename: Mahsa
authors.initials: M
authors.lastname: Khanyaghma
authors.affiliation: Gastroenterology and Liver Disease Research Center, Shahid Beheshti University of Medical Science, Tehran, Iran.
authors.forename: Mahdi Montazer
authors.initials: MM
authors.lastname: Haghighi
authors.affiliation: Gastroenterology and Liver Disease Research Center, Shahid Beheshti University of Medical Science, Tehran, Iran.
authors.forename: Seyedreza
authors.initials: S
authors.lastname: Mohebbi
authors.affiliation: Gastroenterology and Liver Disease Research Center, Shahid Beheshti University of Medical Science, Tehran, Iran.
authors.forename: Behzad
authors.initials: B
authors.lastname: Damavand
authors.affiliation: Gastroenterology and Liver Disease Research Center, Shahid Beheshti University of Medical Science, Tehran, Iran.
authors.forename: Shohreh
authors.initials: S
authors.lastname: Almasi
authors.affiliation: Gastroenterology and Liver Disease Research Center, Shahid Beheshti University of Medical Science, Tehran, Iran.
authors.forename: Pedram
authors.initials: P
authors.lastname: Azimzadeh
authors.affiliation: Gastroenterology and Liver Disease Research Center, Shahid Beheshti University of Medical Science, Tehran, Iran.
authors.forename: Mohammadreza
authors.initials: M
authors.lastname: Zali
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics* / Q000378:metabolism; D000483:Alleles; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D012372:ROC Curve; D012307:Risk Factors
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1
keywords: Colorectal cancer; MLH1; PCR; RFLP