• Title/Summary/Keyword: Gene Associations

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Platelet Derived Growth Factor-B and Human Epidermal Growth Factor Receptor-2 Polymorphisms in Gall Bladder Cancer

  • Mishra, Kumudesh;Behari, Anu;Kapoor, Vinay Kumar;Khan, M. Salman;Prakash, Swayam;Agrawal, Suraksha
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.14
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    • pp.5647-5654
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    • 2015
  • Gall bladder cancer (GBC) is a gastro-intestinal cancer with high prevalence among north Indian women. Platelet derived growth factor-B (PDGFB) and human epidermal growth factor receptor-2 (HER2) may play roles in the etiology of GBC through the inflammation-hyperplasia-dysplasia-carcinoma pathway. To study the association of PDGFB and HER2 polymorphisms with risk of GBC, 200 cases and 300 controls were considered. PDGFB +286A>G and +1135A>C polymorphisms were investigated with an amplification refractory mutation system and the HER2 $Ile^{655}Val$ polymorphism by restriction fragment length polymorphism. Significant risk associations for PDGFB +286 GG (OR=5.25) and PDGFB +1135 CC (OR=3.19) genotypes were observed for GBC. Gender wise stratification revealed susceptibility for recessive models of PDGFB +1135A>C (OR=3.00) and HER2 $Ile^{655}Val$ (OR=2.52) polymorphisms among female GBC cases. GBC cases with gall stones were predisposed to homozygous +286 GG and +1135 CC genotypes. Significant risk associations were found for ACIle (OR=1.48), GAVal (OR=1.70), GAIle (OR=2.00) haplotypes with GBC cases and GCIle haplotype with female GBC cases (OR=10.37, P=<0.0001). Pair-wise linkage disequilibrium revealed negative associations among variant alleles. On multi-dimensional reduction analysis, a three factor model revealed significant gene-gene interaction for PDGFB +286A>G, PDGFB +1135A>C and HER2 Ile165Val SNPs with GBC. Protein-protein interaction showed significant association of PDGFB and HER2 with the epidermal growth factor receptor signaling pathway.

XPC 939A>C and 499C>T Polymorphisms and Skin Cancer Risk: a Meta-analysis

  • Ji, Geng;Lin, Yuan;Cao, Song-Yu;Li, Luo-Zhu;Chen, Xin-Long;Sun, Bu-Mei;Chen, Chuan-Jun;Ma, Hong-Xia
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.10
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    • pp.4983-4988
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    • 2012
  • The xeroderma pigmentosum complementation group C gene (XPC) has been identified as important for repairing UV-related DNA damage. Some subtle changes in this gene may impair repair efficiency and influence susceptibility to human cancers, including skin cancer. Two polymorphisms in XPC, 939A>C (rs2228001) and 499C>T (rs2228000), are considered to have possible associations with the risk of skin cancer, but the reported results have been inconsistent. Here we performed a meta-analysis of the available evidence regarding the relationship between these two polymorphisms and the risk of skin cancer. All relevant studies were searched using PubMed, Embase and Web of Science before February 2012. A total of 8 case-control studies were included in this analysis, and no convincing associations between the two polymorphisms and risk of skin cancer were observed in any of the genetic models. Stratified analyses by skin cancer type also did not detect significant associations in any subgroup. This meta-analysis suggested that the XPC 939A>C and 499C>T polymorphisms may have little involvement in susceptibility to skin cancer.

Association of SNP Marker in the Leptin Gene with Carcass and Meat Quality Traits in Korean Cattle

  • Shin, S.C.;Chung, E.R.
    • Asian-Australasian Journal of Animal Sciences
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    • v.20 no.1
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    • pp.1-6
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    • 2007
  • Leptin is the hormone product of the obese gene and is synthesized and secreted predominantly by white adipocytes and relates to the feedback system that regulates long-term body fat weight and composition. Therefore, the leptin gene could be an excellent candidate gene controlling fat deposition, carcass traits and meat quality in beef cattle. The objective of this study was to evaluate the association of 3 SNPs (A1127T and C1180T in exon 2 and C3100T in exon 3) in the bovine leptin gene with carcass and meat quality traits in Korean cattle. The C1180T SNP was associated with backfat thickness (BF) and marbling score (MS) (p<0.05). Animals with the genotype CC had higher BF than animals with TT genotype and higher MS compared with CT and TT genotypes. No significant associations were observed between the C3100T SNP and any carcass and meat quality traits analyzed. The effect of the A1127T SNP was not analyzed because the TT genotype was not detected and the AT genotype showed only 1.0% frequency. These results suggest that the C1180T SNP of the leptin gene may be useful as a genetic marker for carcass and meat quality traits in Korean cattle.

Effect of Single Nucleotide Polymorphism of Endothelial Differentiation G-Protein Coupled Receptor 1 (EDG1) Gene on Marbling Score in Hanwoo

  • Shin, Sung-Chul;Chung, Eui-Ryong
    • Food Science of Animal Resources
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    • v.32 no.6
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    • pp.776-782
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    • 2012
  • Marbling (intramuscular fat) is the most economically important meat quality trait in Hanwoo (Korean cattle). The endothelial differentiation G-protein coupled receptor 1 (EDG1) gene, involved in blood vessel formation, is located within the genomic region of a quantitative trait locus (QTL) for marbling on bovine chromosome 3. Thus, the EDG1 gene can be considered as a positional and functional candidate gene for meat quality in beef cattle. This study aimed to identify single nucleotide polymorphisms (SNPs) in the EDG1 gene and to evaluate their associations with carcass traits in Hanwoo population. We have sequenced a fragment of 5'-UTR of the EDG1 gene and identified one SNP. Genotyping of the g.166A>G SNP marker was carried out using PCR-RFLP analysis in 309 Hanwoo steers in order to evaluate their association with carcass traits. The g.166A>G SNP marker showed a significant effect on the marbling score. Animals with the GG genotype had higher marbling score compared with AA and AG genotypes (p<0.05). This SNP marker also showed a significant additive effects for the marbling score (p<0.05). These results suggest that the EDG1 gene can be used as a molecular marker for DNA marker-assisted selection in order to increase the levels of the marbling score in Hanwoo.

Ontogenetic Expression of Lpin2 and Lpin3 Genes and Their Associations with Traits in Two Breeds of Chinese Fat-tailed Sheep

  • Jiao, Xiao-Li;Jing, Jiong-Jie;Qiao, Li-Ying;Liu, Jian-Hua;Li, Liu-An;Zhang, Jing;Jia, Xia-Li;Liu, Wen-Zhong
    • Asian-Australasian Journal of Animal Sciences
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    • v.29 no.3
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    • pp.333-342
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    • 2016
  • Lipins play dual function in lipid metabolism by serving as phosphatidate phosphatase and transcriptional co-regulators of gene expression. Mammalian lipin proteins consist of lipin1, lipin2, and lipin3 and are encoded by their respective genes Lpin1, Lpin2, and Lpin3. To date, most studies are concerned with Lpin1, only a few have addressed Lpin2 and Lpin3. Ontogenetic expression of Lpin2 and Lpin3 and their associations with traits would help to explore their molecular and physiological functions in sheep. In this study, 48 animals with an equal number of males and females each for both breeds of fat-tailed sheep such as Guangling Large Tailed (GLT) and Small Tailed Han (STH) were chosen to evaluate the ontogenetic expression of Lpin2 and Lpin3 from eight different tissues and months of age by quantitative real-time polymerase chain reaction (PCR). Associations between gene expression and slaughter and tail traits were also analyzed. The results showed that Lpin2 mRNA was highly expressed in perirenal and tail fats, and was also substantially expressed in liver, kidney, reproductive organs (testis and ovary), with the lowest levels in small intestine and femoral biceps. Lpin3 mRNA was prominently expressed in liver and small intestine, and was also expressed at high levels in kidney, perirenal and tail fats as well as reproductive organs (testis and ovary), with the lowest level in femoral biceps. Global expression of Lpin2 and Lpin3 in GLT both were significantly higher than those in STH. Spatiotemporal expression showed that the highest levels of Lpin2 expression occurred at 10 months of age in two breeds of sheep, with the lowest expression at 2 months of age in STH and at 8 months of age in GLT. The greatest levels of Lpin3 expression occurred at 4 months of age in STH and at 10 months of age in GLT, with the lowest expression at 12 months of age in STH and at 8 months of age in GLT. Breed and age significantly influenced the tissue expression patterns of Lpin2 and Lpin3, respectively, and sex significantly influenced the spatiotemporal expression patterns of Lpin3. Meanwhile, Lpin2 and Lpin3 mRNA expression both showed significant correlations with slaughter and tail traits, and the associations appear to be related with the ontogenetic expression as well as the potential functions of lipin2 and lipin3 in sheep.

The -765G>C Polymorphism in the Cyclooxygenase-2 Gene and Digestive System Cancer: a Meta-analysis

  • Zhao, Fen;Cao, Yue;Zhu, Hong;Huang, Min;Yi, Cheng;Huang, Ying
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.19
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    • pp.8301-8310
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    • 2014
  • Background: Published data regarding associations between the -765G>C polymorphism in cyclooxygenase-2 (COX-2) gene and digestive system cancer risk have been inconclusive. The aim of this study was to comprehensively evaluate the genetic risk of the -765G>C polymorphism in the COX-2 gene for digestive system cancer. Materials and Methods: A search was performed in Pubmed, Medline (Ovid), Embase, CNKI, Weipu, Wanfang and CBM databases, covering all studies until Feb 10, 2014. Statistical analysis was performed using Revman5.2. Results: A total of 10,814 cases and 16,174 controls in 38 case-control studies were included in this meta-analysis. The results indicated that C allele carriers (GC+CC) had a 20% increased risk of digestive system cancer when compared with the homozygote GG (odds ratio (OR)=1.20, 95% confidence interval (CI), 1.00-1.44 for GC+CC vs GG). In the subgroup analysis by ethnicity, significant elevated risks were associated with C allele carriers (GC+CC) in Asians (OR = 1.46, 95% CI=1.07-2.01, and p=0.02) and Africans (OR=2.12, 95% CI=1.57-2.87, and p< 0.00001), but not among Caucasians, Americans and mixed groups. For subgroup analysis by cancer type (GC+CC vs GG), significant associations were found between the -765G>C polymorphism and higher risk for gastric cancer (OR=1.64, 95% CI=1.03-2.61, and p=0.04), but not for colorectal cancer, oral cancer, esophageal cancer, and others. Regarding study design (GC+CC vs GG), no significant associations were found in then population-based case-control (PCC), hospital-based case-control (HCC) and family-based case-control (FCC) studies. Conclusions: This meta-analysis suggested that the -765G>C polymorphism of the COX-2 gene is a potential risk factor for digestive system cancer in Asians and Africans and gastric cancer overall.

Lack of Influence of an XRCC3 Gene Polymorphism on Oral Cancer Susceptibility: Meta-analysis

  • Zhang, En-Jiao;Cui, Zhi-Gang;Xu, Zhong-Fei;Duan, Wei-Yi;Huang, Shao-Hui;Tan, Xue-Xin;Yin, Zhi-Hua;Sun, Chang-Fu;Lu, Li
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.23
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    • pp.10329-10334
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    • 2015
  • Background: To systematically summarize the association between the X-ray repair cross complementing 3 (XRCC3) gene polymorphism and oral cancer susceptibility by meta-analysis. Materials and Methods: Databases including PubMed, EMbase, CNKI, VIP and WanFang Data were searched to identify case-control studies concerning the association between an XRCC3 gene polymorphism and the risk of oral cancer from the inception to June 2014. Two reviewers independently screened the literature according to the criteria, extracted the data and assessed the quality. Then meta-analysis was performed using Stata 11.0 software. Results: Seven published case-control studies including 775 patients with oral cancer and 1922 controls were selected. Associations between the rs861539 polymorphism and overall oral cancer risk were not statistically significant in all kinds of comparison models (CT vs CC: OR=0.94, 95%CI=0.74-1.18; TT vs CC: OR=0.94, 95%CI=0.64-1.38; dominant model: OR=0.95, 95%CI=0.76-1.18; recessive model: OR=0.94, 95%CI=0.69-1.29; allele T vs C: OR=0.97, 95%CI=0.84-1.11). In the stratified analysis by ethnicity, no significant associations were found among Asians and Caucasians. On stratification by tumor type, no significant associations were found for cancer and oral premalignant lesions. Conclusions: The XRCC3 gene polymorphism was not found to be associated with the risk of oral cancer. Considering the limited quality of the included case-control studies, more high quality studies with large sample size are needed to verify the above conclusion.

Estrogen Receptor Alpha Gene Polymorphisms and Breast Cancer Risk: a Case-control Study with Meta-analysis Combined

  • Lu, Hong;Chen, Dong;Hu, Li-Ping;Zhou, Lian-Lian;Xu, Hui-Ying;Bai, Yong-Heng;Lin, Xiang-Yang
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.11
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    • pp.6743-6749
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    • 2013
  • Molecular epidemiological studies have shown that gene polymorphisms of estrogen receptor alpha gene (ESR-${\alpha}$) are associated with breast cancer risk. However, previous results from many molecular studies have been inconsistent. In this study, we examined two polymorphisms (PvuII and XbaI RFLPs) of the ESR-${\alpha}$ gene in 542 breast cancer cases and 1,016 controls from China. Associations between the polymorphisms and breast cancer risk were calculated with an unconditional logistic regression model. Linkage disequilibrium and haplotypes were analyzed with the SHEsis software. In addition, we also performed a systematic meta-analysis of 24 published studies evaluating the association. No significant associations were found between the PvuII polymorphism and breast cancer risk. However, a significantly decreased risk of breast cancer was observed among carriers of the XbaI 'G' allele (age-adjusted OR = 0.80; 95% CI = 0.66- 0.97) compared with carriers of the 'A' allele. Haplotype analysis showed significantly decreased cancer risk for carriers of the 'CG' haplotype (OR = 0.79; 95% CI = 0.66- 0.96). In the systematic meta-analysis, the XbaI 'G' allele was associated with an overall significantly decreased risk of breast cancer (OR = 0.90, 95% CI = 0.82- 1.00). In addition, the PvuII 'C' allele showed a 0.96- fold decreased disease risk (95% CI = 0.92- 0.99). In subgroup analysis, an association between the PvuII 'C' and XbaI 'G' alleles and breast cancer risk was significant in Asians ('C' vs. 'T': OR = 0.93, 95% CI = 0.85- 1.00; 'G' vs. 'A': OR = 0.82, 95% CI = 0.68- 0.98), but not in Euro-Americans. Thus, our results provide evidence that ESR-${\alpha}$ polymorphisms are associated with susceptibility to breast cancer. These associations may largely depend on population characteristics and geographic location.

Novel SNP in the coding region of the FTO gene is associated with marbling score in Hanwoo (Korean cattle)

  • Chung, Eui-Ryong
    • Journal of Animal Science and Technology
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    • v.56 no.8
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    • pp.27.1-27.6
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    • 2014
  • The fat mass and obesity associated (FTO) gene plays an important role in the regulation of energy homeostasis, fat deposition and obesity. For this reason, the FTO gene is a physiological and functional candidate gene for carcass and meat quality traits in beef cattle. The objectives of this study were to identify SNPs in the exonic regions of FTO gene and to evaluate the association of these SNPs with carcass traits in Hanwoo (Korean cattle). In this study, we newly identified two exonic SNPs in Hanwoo population. The g.125550A > T SNP was located in exon 3 and the g.175675C > T SNP was located in exon 6. Genotyping of the two SNP markers was carried out using PCR-RFLP analysis in Hanwoo steers to evaluate their association with carcass traits. As a result, g.125550A > T SNP genotype was significantly associated with effects on marbling score. Animals with the AA and TT homozygous genotypes had a significantly higher marbling score (p < 0.001) than those with AT heterozygous genotype, and this was significant after Bonferroni correction of the significance threshold (p = 0.003). Dominance effect was also observed for the marbling score (P < 0.05) with higher marbling score of homozygous animals. However, no significant associations with meat quality traits were observed for the g.175675C > T SNP. Our results suggest that the exonic SNP g.125550A > T in the FTO gene may be used as a DNA marker for the selection of Hanwoo with higher marbling.

Genetic Diversity and Gene Flow Patterns in Pollicipes mitella in Korea Inferred from Mitochondrial DNA Sequence Analysis

  • Yoon, Moongeun;Jung, Ju-Yeon;Kim, Dong Soo
    • Fisheries and Aquatic Sciences
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    • v.16 no.4
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    • pp.243-251
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    • 2013
  • Genetic diversity and gene flow patterns in Pollicipes mitella were investigated with a nucleotide sequence analysis of 514 base pairs from the mitochondrial cytochrome c oxidase subunit I gene (COI) in 124 samples collected from six Korean populations. In total, 59 haplotypes were defined by 40 variable nucleotide sites in the COI region. The haplotypes had shallow haplotype genealogy and no geographic associations. All populations had high haplotype diversity (0.909 to 0.979) and low nucleotide diversity (0.0055 to 0.0098). The haplotypes with recently diverged nucleotides were distributed by long-range larvae dispersal among regional populations. The pairwise fixation indices ($F_{ST}$) estimated with the exact test and migration rates indicate that substantial gene flow has occurred among populations as a result of sea currents, except between the Uljin (East Sea coast) and other Korean populations. This suggests that significant genetic differentiation and low migration rates have affected the Uljin population.