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Medical AI Inquiry: You was designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.  Labels: OBJECTIVE, METHODS, RESULTS. Meshes: Adolescent, Adult, Aged, Apoptosis, Colitis, Ulcerative, DNA-(Apurinic or Apyrimidinic Site) Lyase, DNA-Binding Proteins, Female, Genetic Predisposition to Disease, Humans, Leukocytes, Mononuclear, Male, Middle Aged, Polymorphism, Single Nucleotide, Reactive Oxygen Species, Risk, X-ray Repair Cross Complementing Protein 1, Young Adult.
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Do functional polymorphisms in XRCC-1 and APE-1 contribute to increased apoptosis and risk of ulcerative colitis? Context: The present study was designed to investigate the role of X-ray cross-complementing group 1 (XRCC1) and apurinic/apyrimidinic endonuclease 1 (APE1) polymorphisms in apoptosis and the risk of ulcerative colitis (UC). Blood samples from 384 unrelated subject (age range 18-65 years; 171 with UC, 213 healthy controls) were collected after colonoscopy. Genomic DNA was isolated and genotyped for XRCC1                            Arg399Gln and APE1                            Asp148Glu using a confronting two-pair primers polymerase chain reaction. Apoptosis and intracellular reactive oxygen species (ROS) levels in peripheral blood mononuclear cells were measured using annexin-V and H(2)DCFDA assay, respectively. The frequency of genotype Arg399Gln (heterozygous) of XRCC1 gene was significantly higher in patients with UC than the controls (odds ratio [OR] 1.73; 95% confidence interval [CI] 1.13-2.64; p = 0.01). Similarly the genotypic frequency of APE1                            Asp148Glu showed statistically significant incidence among UC subjects (OR 1.54; 95% CI 1.02-2.33; p = 0.04). Polymorphism in XRCC1                            Arg399Gln and APE1                            Asp148Glu together considerably increased the risk of UC (OR 2.303; 95% CI 1.43-3.69; p = 0.0007). ROS levels were high in UC subjects compared with controls (p = 0.01).
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Polymorphisms in XRCC1                            Arg399Gln and APE1                            Asp148Glu significantly increased the rate of apoptosis and risk of ulcerative colitis. Final Decision: yes