• Asian Pacific Journal of Cancer Prevention
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• v.16 no.16
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• pp.7277-7284
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• 2015

Background: The Wnt/${\beta}$-catenin signaling pathway is an important regulator of cellular functions such as proliferation, survival and cell adhesion. Wnt/${\beta}$-catenin signaling is associated with tumor initiation and progression; ${\beta}$-catenin mutations explain only 30% of aberrant signaling found in breast cancer, indicating that other components and/or regulation of the Wnt/${\beta}$-catenin pathway may be involved. Objective: We evaluated AXIN2 rs2240308 and rs151279728 polymorphisms, and expression profiles of ${\beta}$-catenin destruction complex genes in breast cancer patients. Materials and Methods: We collected peripheral blood samples from 102 breast cancer and 102 healthy subjects. The identification of the genetic variation was performed using PCR-RFLPs and DNA sequencing. RT-qPCR was used to determine expression profiles. Results: We found significant association of AXIN2 rs151279728 and rs2240308 polymorphisms with breast cancer risk. Significant increase was observed in AXIN2 level expression in breast cancer patients. Further analyses showed APC, ${\beta}$-catenin, CK1${\alpha}$, GSK3${\beta}$ and PP2A gene expression to be associated to clinic-pathological characteristics. Conclusions: The present study demonstrated, for the first time, that AXIN2 genetic defects and disturbance of ${\beta}$-catenin destruction complex expression may be found in breast cancer patients, providing additional support for roles of Wnt/${\beta}$-catenin pathway dysfunction in breast cancer tumorigenesis. However, the functional consequences of the genetic alterations remain to be determined.

• Asian-Australasian Journal of Animal Sciences
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• v.20 no.9
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• pp.1327-1333
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• 2007

Lactose synthase catalyses the formation of lactose which is the major osmole of bovine milk and regulates the milk volume. Alpha-lactalbumin (${\alpha}$-LA) is involved in the synthesis of lactose synthase in the mammary gland. Therefore ${\alpha}$-LA is regarded as a plausible candidate gene for the milk yield trait. To determine whether ${\alpha}$-LA is associated with milk performance traits, 1,028 Chinese Holstein cows were used to detect polymorphisms in the ${\alpha}$-LA by means of single-strand conformation polymorphism (SSCP). Two nucleotide transitions were identified in the 5'flanking region and intron 3 of ${\alpha}$-LA. Associations of such polymorphisms with five milk performance traits were analyzed using a general linear model procedure. No significant associations were observed between these polymorphisms and the five milk performance traits (p>0.05). RH mapping placed ${\alpha}$-LA on BTA5q21, linked most closely to markers U63110, CC537786 and L10347 (LOD>8.3), which is far distant from the region of the quantitative trait locus (QTL) on bovine chromosome 5 for variation in the milk yield trait. In summary, based on our findings, we eliminated these SNPs from having an effect on milk performance traits.

• BMB Reports
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• v.43 no.8
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• pp.530-534
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• 2010

Cytochrome P450 (CYP) 1A2 gene polymorphisms are thought to be involved in the metabolism of theophylline (TP). We aimed to investigate the effect of CYP1A2*1C, CYP1A2*1D, CYP1A2*1E, and CYP1A2*1F polymorphisms of the CYP1A2 on TP metabolism by PCR-RFLP in 100 Turkish patients with chronic obstructive pulmonary disease (COPD) receiving TP. One hundred and one healthy volunteers were included as control group. The genotype frequencies of the CYP1A2*1D and CYP1A2*1F were found to be significantly different in the patients compared to the controls. The "T" allele at -2467 delT and the "C" allele at -163 C > A in the CYP1A2 displayed association with a significantly increased risk for COPD. "T" allele at -2467 delT was also associated with a high risk of disease severity in COPD. In conclusion, our data suggest that genetic alterations in CYP1A2 may play a role both in the pharmacogenetics of TP and in the development of COPD.

• Korean Journal of Head & Neck Oncology
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• v.22 no.2
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• pp.117-122
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• 2006

Background and Objectives : Thyroid carcinoma is the sixth commonest cancer in Korea and the papillary carcinoma is the most common type(88%) of the malignant thyroid tumors. Bulky DNA adducts formed by the carcinogens are repaired by DNA repair process, but failure to repair this DNA damage can cause mutations in oncogenes and tumor suppressor genes resulting in tumor formation. The xeroderma pigmentosum group C(XPC) gene is essential for this repair procedure and the XPC-PolyAT(PAT) polymorphisms may alter DNA repair capacity(DRC) and genetic susceptibility to cancer. Subjects and Methods : In a case-control study of 113 Korean patients with pathologically diagnosed thyroid papillary carcinoma and 65 control subjects, we investigated the association between the three XPC-PAT gene polymorphisms and thyroid papillary cancer susceptibility. Results : The frequency of the variant XPC-PAT allele was lower in the cases(0.349) than in the controls (0.423), but the difference was not significant(p=0.140). Using logistic regression adjusting for age and sex, risk for thyroid papillary cancer was not increased in the XPC-PAT-/+ and XPC-PAT+/+ compared to XPCPAT-/-(adjusted overall odds ratio[95% confidence intervals;95%CI]=0.52[0.26-1.03] and 0.62 [0.22-1.75], respectively; trend test, p=0.167). Conclusion : There are no relationship between the XPC-PAT polymorphism and the risk of thyroid papillary carcinoma in Korean population. Based on our results, XPC-PAT polymorphism do not modulate genetic susceptibility to thyroid papillary cancer.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.6
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• pp.2705-2709
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• 2012

Objective: To evaluate the predictive value of glutathione S-transferase (GST) gene polymorphisms for the prognosis of osteosarcoma patients receiving chemotherapy. Methods: A total of 159 patients were included in our study between January 2005 and December 2007., with follow-up until January 2012. Genotyping was based upon the duplex polymerase-chain-reaction with the PCR-CTPP method. Results: At the time of diagnosis, 15.4% of the patients presented with metastasis, while 22.3% developed metastasis during follow-up. At the time of final analysis on January 2012, the median follow-up was 45.5 months. Patients with null GSTM1 and GSTT1 had a higher event free survival rate than non-null genotype, but no significant association was found between the two genotypes and prognosis of osteosarcoma. Individuals with GSTP1 Val/Val genotype tended to live shorter than with the IIe/IIe genotype, and we found a significantly higher risk of death from osteosarcoma (adjusted HR=2.35, 95% CI=1.13-4.85). Conclusion: The GSTP1 gene polymorphism may have an important role in the prognosis of osteosarcoma patients with chemotherapy. Further analyses with larger samples and more genes encoding metabolizing and DNA repair enzymes are warranted.

• Asian-Australasian Journal of Animal Sciences
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• v.19 no.10
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• pp.1409-1414
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• 2006

The objective of this study was to screen single nucleotide polymorphisms (SNPs) of the chicken lipoprotein lipase gene (LPL), using 545 F1 hybrids developed from $4{\times}4$ diallel crossing of four chicken breeds, and to analyze the associations between polymorphisms of the LPL and chicken fat deposition traits. PCR-SSCP was used to detect SNPs in LPL. Fifteen sets of primers were designed to amplify DNA fragments covering the 5'flanking and coding regions of LPL. It showed that there existed 5 polymorphic loci in the 5'flanking region and coding region, respectively. Association analysis was carried out between 10 polymorphic loci and intermuscular fat width, abdominal fat weight, and thickness of subcutaneous fat using ANCOVA, respectively. The results indicated that, in the 5'flanking region, the loci d and e significantly affected thickness of subcutaneous fat (p<0.05), abdominal fat weight (p<0.01) and subcutaneous fat (p<0.05), while in the coding region, synonymous mutation in exon 8 was significantly associated with intermuscular fat width (p<0.05), however, the non-synonymous mutations in exon 7 and exon 9 did not show statistically significant effects on fat deposition traits in this study.

• Food Science of Animal Resources
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• v.31 no.3
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• pp.356-365
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• 2011

We assessed the effects of single-nucleotide polymorphisms (SNPs) within the porcine fatty acid synthase (FASN) gene regarding meat quality and fatty acid composition in two pig populations: Korean native pigs (KNP) were crossed with Yorkshire (YS) $F_2$, and KNP were crossed with Landrace (LR) $F_2$. Direct DNA sequencing using eight KNP and eight YS pigs revealed two SNPs: c.265C>T (silent) in exon 4 and c.6545A>C (Asn${\rightarrow}$His) in exon 39. The frequency of the two SNPs was analyzed using the polymerase chain reaction-restriction fragment length polymorphism method in seven pig breeds and their association with meat quality traits and fatty acid composition was studied. In the $KNP{\times}YSF_2$ population, both SNPs were significantly associated with the level of monounsaturated fatty acids, including palmitoleic (C16:1) and oleic acid (C18:1) (p<0.005). c.6545A>C was associated with intramuscular fat content in both populations. Our results indicate that variations in c.265C>T and c.6545A>C of the pig FASN can be used to select animals with better fatty acid composition and meat quality. Moreover, KNP was a useful breed for identifying genetic factors affecting meat quality and fatty acid composition and for producing high quality pork.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.12
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• pp.5025-5030
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• 2015

Immunoregulatory cytokines have an influence on hepatitis C virus (HCV) infection outcome. This study aimed to determine whether single nucleotide polymorphisms (SNP) in IFN- ${\gamma}$ and IL-10 genes are associated with susceptibility and/or are markers of prognosis regarding chronic hepatitis C outcomes. IFN ${\gamma}$ (+874T/A) and IL-10 (-1082G/A) genotypes were determined in 75 HCV genotype 4 patients with different disease severities (chronic hepatitis, n=25, liver cirrhosis and hepatocellular carcinoma (HCC) on top of liver cirrhosis, n=50) and 25 healthy participants using allele-specific polymerase chain reaction. No statistical differences in allele or genotype distributions of IFN ${\gamma}$ and IL-10 genes were detected between patients and controls or between patientgroups. No significant difference in the frequency of IL-10 SNP at position -1082 or IFN-${\gamma}$ at position +874T/A was found between chronic HCV genotype 4 and with progression of disease severity in liver cirrhosis or HCC. In conclusion; interferon-${\gamma}$ and interleukin-10 gene polymorphisms are not predictors of disease progression in patients with chronic hepatitis C (Genotype-4).

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.1
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• pp.97-101
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• 2015

Background: The gene for the vascular endothelial growth factor (VEGF), which promotes angiogenesis and permeability, is polymorphic. The aim of the present study was to evaluate the relationship between +936C>T and +404C>G polymorphism of VEGF with risk of esophageal cancer in the Kashmiri population in India. Materials and Methods: 150 esophageal cancer patients and 150 unrelated healthy controls were genotyped for two VGEF SNPs (+405C/G, and +936C/T) using DNA extracted from prospectively collected blood samples by the PCR-RFLP method. Results: For the VEGF +936C>T polymorphism a significant association of CT and combined CT+TT genotypes was observed with increased risk of esophageal cancer (p=0.021; 0.024). For the +405C>G polymorphism we observed significantly increased frequency of GG genotype in cases as compared to controls and also the +405 GG Genotype was observed to have a two fold risk(OR=2.7356; 95%CI=1.1409-6.5593; p=0.020). The combined genotypes of GG-CC and GG-CT of +405C>G and +936C>T were found to be significantly associated with increased risk of esophageal cancer (p=0.0376; 0.0099). Conclusions: From the results of the present study a significant association of +936C>T and +405C>G polymorphisms with increased esophageal cancer risk exists in the Kashmiri population.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.10
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• pp.5713-5718
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• 2013

Background: DNA methyltransferase-3a (DNMT3a) plays significant roles in embryogenesis and the generation of aberrant methylation in carcinogenesis. This study aimed to investigate associations between single nucleotide polymorphisms (SNPs) of the DNMT3a gene and risk of Helicobacter pylori infection, gastric atrophy and gastric cancer. Methods: The subjects comprised 447 patients with gastric cancer; 111 individuals with gastric atrophy and 961 healthy controls. Two SNPs (rs1550117 and rs13420827) of the DNMT3a gene were genotyped by Taqman assay. DNMT3a expression was analyzed in cancer tissues from 89 patients by tissue microarray technique. Odds ratio (ORs) and 95% confidence intervals were calculated by multivariate logistic regression. Results: Among healthy controls, risk of H.pylori infection was significantly higher in subjects with the rs1550117 AA genotype, compared to those with GG/AG genotypes of DNMT3a [OR=2.08, (95%CI: 1.02-4.32)]. However, no significant correlation was found between the two SNPs and risk of developing gastric atrophy or gastric cancer. In addition, no increase in DNMT3a expression was observed in the gastric cancer with H.pylori infection. Conclusions: This study revealed that DNMT3a rs1550117 polymorphism is significantly associated with an increased risk of H. pylori infection, but did not support any evidence for contributions of DNMT3a rs1550117 and rs13420827 to either gastric atrophy or gastric cancer. The biological roles of DNMT3a polymorphisms require further investigation.