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Background: Although previous studies have demonstrated an association between ABO blood group and the risk of gastric cancer (GC), only one study has identified these associations using the ABO genotype; however, that study did not evaluate sex differences in this association. The aim of the present study was to investigate whether there are sex-specific differences in the ABO genotype-associated risk of GC. In addition, we explored the association of the ABO genotype and the clinicopathologic characteristics of GC in a Korean population. Methods: We conducted a large-scale case-control study of 3245 GC patients (2204 males, 1041 females) and 1700 controls (821 males, 879 females). The ABO genotype was determined by multicolor real-time polymerase chain reaction (PCR) using displacing probes. Results: As compared with genotype OO, genotypes AA and AO in females, but not in males, were associated with a significantly increased risk of GC (odds ratio [OR] 1.56 and 95 % confidence interval [CI] 1.08-2.26 for AA; OR 1.57 and 95 % CI 1.21-2.03 for AO). In a subgroup analysis, blood group A had a significantly increased risk of diffuse-type GC (OR 2.00, 95 % CI 1.43-2.78), but not of intestinal-type (OR 1.31, 95 % CI 0.96-1.79) or mixed-type GC (OR 1.43, 95 % CI 0.92-2.24). Conclusion: The ABO genotypes AA and AO were significantly associated with GC only in females and only for diffuse-type GC. These data suggest that the association between ABO blood group and GC risk may differ according to sex and histological type. [ABSTRACT FROM AUTHOR]

Genetic polymorphisms in drug-metabolizing, DNA repair and multidrug resistance genes affect the risks for many cancers. We analyzed 21 polymorphisms in 17 genes in these pathways to evaluate their association with the risk of acute myeloid leukemia (AML) and to examine whether smoking modifies these associations in a population-based study in Korea (415 cases, 1700 controls). We found marginal associations between the risk of AML and CYP1A1 1188, and XRCC1 194, ERCC1 IVS5 ++ 33 and WRN 787 polymorphisms. However, when we performed the analysis according to smoking exposure, we found a stronger association for ERCC1 only in the non-smoking population (odds ratio [OR] == 0.74; 95% confidence interval [CI] == 0.60-0.91, p == 0.004), while we found the GSTT1-null genotype to be associated with an increased risk of AML in ever-smokers (OR == 1.51; 95% CI == 1.06-2.15, p == 0.02). These results indicate that ERCC1 and GSTT1-null polymorphisms may have an effect on AML risk that is dependent on smoking exposure. [ABSTRACT FROM AUTHOR]

Polymorphisms of the H2A histone family member X ( H2AFX) gene have been associated with decreased non-Hodgkin lymphoma (NHL, -417AA) risk and increased breast cancer (1654AG/GG, and -1420GA/AA) risk. We investigated whether H2AFX polymorphisms are associated with the risk of NHL and its subtypes in 573 NHL Korean patients and 721 cancer-free control subjects, using high resolution melting polymerase chain reaction and an automatic sequencer. There was no association between polymorphisms and the risk of overall NHL, all B cell lymphoma, or all T cell lymphoma. However, the -1420 AA genotype was associated with decreased diffuse large B cell lymphoma (DLBCL) risk (OR, 0.65; 95% CI, 0.43-0.97), and there was a trend for allele dose-effect ( p-trend=0.03). The -1187 CC genotype was associated with decreased DLBCL risk with borderline significance (OR, 0.70; 95% CI, 0.48-1.02). There was a trend for an allele dose-effect with borderline significance ( p-trend=0.06). These results suggest that the -1420 AA genotype of H2AFX may be associated with reduced DLBCL risks in the Korean population. [ABSTRACT FROM AUTHOR]

Abstract: The aim of this study was to assess whether p53 codon 72 polymorphism is associated with an increased risk of lung cancer (LC) in a South Korean population. We conducted a population-based, large-scale, case-control study including 3939 patients with LC and 1700 controls. P53 codon 72 polymorphism was determined by real-time polymerase chain reaction (PCR). The frequencies of p53 codon 72 polymorphisms (Arg/Arg, Arg/Pro, and Pro/Pro) in LC were 37.0%, 46.2%, and 16.7%, respectively; frequencies in the controls were 43.2%, 45.6%, and 11.2%, respectively (p <0.01). The Arg/Pro and Pro/Pro genotype were significantly associated with increased risk of LC (odds ratio (OR)=1.22, 95% confidence interval (CI)=1.06–1.14 and OR=1.83, 95% CI=1.48–2.26, respectively) compared with the Arg/Arg genotype. Risk was compared in different subgroups. The OR of Pro/Pro genotype was significantly higher in small cell lung cancer (SCC) and squamous cell carcinoma (SQC) than in adenocarcinoma (ADC). Higher OR of Pro/Pro genotype was also seen among males. However, relationships between gender, age, smoking, and genotypes were not found. P53 codon 72 polymorphism was associated with an increased risk of LC in this Korean population; the association was especially noteworthy in SQC, SCC, and males. [Copyright &y& Elsevier]

Abstract: Several genetic polymorphisms in the genes coding folate-metabolizing enzymes have been associated with susceptibility to hematology malignancies. We conducted a Korean population-based case–control study to examine the relationship between the polymorphisms of folate-metabolizing enzymes and the risk of AML (acute myelogenous leukemia), CML (chronic myelogenous leukemia), MDS (myelodyspastic syndrome), and ALL (acute lymphoblastc leukemia). The MTHFR 677TT genotype was associated with an increased risk for ALL (odds ratios (OR)=1.77; 95% confidence intervals (CI)=1.02–3.09, p =.044). The MTRR 66 AG genotype was associated with an increased risk for MDS (OR=1.59; 1.06–2.38, p =.026) and the MTRR 66 GG genotype was associated with increased risk for AML (OR=1.51; 1.03–2.23, p =.037). The TYMS 2R3R genotype was associated with a decreased risk for AML (OR=0.76; 0.60–0.96, p =.022). The TYMS hap3 (2R-6bp) and hap4 (2R-0bp) were associated with decreased risk (OR=0.69; 0.53–0.90, p =.006) and increased risk (OR=1.65; 1.20–2.27, p =.002), respectively for AML. Hap C (677T-1298A) was associated with an increased risk (OR=1.40; 1.02–1.92, p =.04) for ALL. The risk for ALL appears to be associated with the MTHFR 677 polymorphism. The results are supportive of a risk modification by folate polymorphisms in several hematologic malignancies in Korea. The pattern of results suggests that MDS was associated with the DNA methylation status and the risk for AML was associated with both the DNA synthesis and DNA methylation status. [Copyright &y& Elsevier]