ABSTRACT
BACKGROUND: Ninety percent of pancreatic cancer patients have less than 5-year overall survival and approximately 50% of cases were diagnosed with metastasis in the time of admission. Previous evidences have demonstrated the strong association between TGF-ß1 variations and cancer susceptibility so far. METHODS: A total of 78 patients with pancreatic cancer and 94 healthy controls were enrolled in this case- control study between 2007 and 2012. Genomic DNA was isolated from peripheral blood samples according to phenol chloroform extraction. The genotypes of TGF-ß1 rs rs1800469 and rs1800471 were determined using the polymerase chain reaction-restriction fragment length polymorphism method. RESULTS: The mean age of cases and the control group were 64.50 ± 13.718 and 40.12 ± 16.001, respectively. For polymorphism -509 C>T, the frequency of TT genotype were 31 (33.0), CT, 47(50) and CC, 16 (17) in control and 19 (24.4), 45 (57.7) and 14 (17.9) in cases respectively. In position +915 G>C, the frequency of GG genotype was 84 (89.4) and GC, 10 (10.6) in control and 71 (91.0) and 7 (9) in cases, respectively. We did not observe any significant differences in the genotype and allele frequencies of the TGF-ß1-509 C>T (rs1800469) and codon +915 G>C (rs1800471) between the two study groups (P>0.05). CONCLUSION: we found that TGF-ß1 gene polymorphisms rs1800469 and rs1800471 might not play a role in pancreatic cancer susceptibility in Iranian population.
ABSTRACT
Gastric cancer (GC) is the second cause of cancer-related death worldwide. Interleukin (IL)-16 has a vital role in the development and homeostasis of the immune system. In the present study, we evaluated an exon variant rs4072111 C/T polymorphism and 3' UTR variant rs1131445 C/T within the miRNA binding with gastric cancer susceptibility in Iranian population. Genomic DNA was isolated from peripheral blood samples according to phenol chloroform extraction. The genotypes of IL-16 polymorphisms rs1131445 T/C and rs4072111 T/C were determined by polymerase chain reaction-restriction fragment length polymorphism method. In this case control study, a total of 256 patients with gastric cancer (238 cases (92.9 %) non-cardia and 18 cases (7.1 %) cardia) and 300 healthy control subjects were evaluated. In the present study, we found a significant association between rs4072111 of IL-16 gene and risk of GC in Iranian population. Individuals with CT genotype showed a significant association with 1.79-fold increased risk of GC (P = 0.008; adjusted OR 1.792; 95 % CI 1.164-2.759). The significant association was also detected for T allele of rs4072111 and increased risk of GC (P < 0.001; adjusted OR 1.981; 95 % CI 1.354-2.900). We also observed statistically a significant relationship between rs1131445 of IL-16 CT genotype and GC risk. Carriers of IL-16 CT genotype compared with TT genotype had 1.44 times higher increased likelihood of GC (P = 0.048; adjusted OR 1.445; 95 % CI 1.003-2.084). After stratification according to gender, we observed that in rs1131445, CT and CC male carriers had a higher risk of GC than females (P = 0.08; adjusted OR 1.608; 95 % CI 0.945-2.737 and P = 0.08; adjusted OR 2.186; 95 % CI 0.897-5.325, respectively). We also observed that for male carriers with C allele in rs1131445, there was a 1.53-fold higher risk of GC risk than female subjects (P = 0.029; adjusted OR 1.53; 95 % CI 1.04.4-2.248). We found that the rs1131445 T/C and rs4072111 T/C variants of IL-16 were significantly associated with increased risk of GC in Iranian population.
Subject(s)
Biomarkers, Tumor/genetics , Genetic Predisposition to Disease/genetics , Interleukin-16/genetics , Polymorphism, Restriction Fragment Length , Polymorphism, Single Nucleotide , Stomach Neoplasms/genetics , Adult , Aged , Area Under Curve , Case-Control Studies , Female , Genotype , Humans , Iran , Male , Middle Aged , Odds Ratio , Polymerase Chain Reaction , ROC Curve , Risk FactorsABSTRACT
Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease caused by germline mutation in Adenomatous Polyposis Coli (APC) gene. FAP accounts less than 1% of all colorectal cancers incidence. Patients generally present hundreds to thousands of adenomas in colon and rectum and develop colorectal cancer by age 35 - 40 if left untreated. A milder form of FAP with fewer numbers of polyps (< 100) is Attenuated FAP (AFAP) and in comparison with classical FAP, it usually diagnosed at an older age. Approximately 15% - 20% of FAP patients are ''de novo'' cases without any family history of the disease and novel APC mutations account for approximately 25% of FAP cases. In our study, we reported a novel missense mutation at the APC gene in a denovo patient with AFAP like phenotype.
