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Identification of a Novel SNP Associated with Meat Quality in C/EBP${\alpha}$ Gene of Korean Cattle

  • Shin, S.C.;Kang, M.J.;Chung, E.R.
    • Asian-Australasian Journal of Animal Sciences
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    • 제20권4호
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    • pp.466-470
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    • 2007
  • CCAAT/enhancer binding protein ${\alpha}$($C/EBP{\alpha}$) plays an important role in lipid deposition and adipocyte differentiation. In order to find genetic markers to improve the meat quality of Korean cattle, the bovine $C/EBP{\alpha}$ gene was chosen as a candidate gene to investigate its association with carcass and meat quality traits in Korean cattle. A single nucleotide polymorphism (SNP) was identified at position 271 (A/C substitution) of coding region in the $C/EBP{\alpha}$ gene. A PCR-RFLP procedure with restriction enzyme SmaI was developed for determining the marker genotypes. The frequencies of alleles C and A and were 0.374 and 0.626, respectively. The genotype frequencies for CC, AC and AA were 12.9, 49.0 and 38.1%, respectively, in Korean cattle population. The frequencies of genotype were in agreement with Hardy-Weinberg equilibrium. Association analysis indicated that the gene-specific SNP marker of $C/EBP{\alpha}$ showed a significant association with marbling score (p<0.05). The animals with AA genotype had higher marbling score than those with the AC or CC genotype. Although further studies are needed to validate our results, the $C/EBP{\alpha}$ gene could be useful as a genetic marker for carcass and meat quality traits in Korean cattle.

Genetic Diversity of a Chinese Native Chicken Breed, Bian Chicken, Based on Twenty-nine Microsatellite Markers

  • Ding, Fu-Xiang;Zhang, Gen-Xi;Wang, Jin-Yu;Li, Yuan;Zhang, Li-Jun;Wei, Yue;Wang, Hui-Hua;Zhang, Li;Hou, Qi-Rui
    • Asian-Australasian Journal of Animal Sciences
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    • 제23권2호
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    • pp.154-161
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    • 2010
  • The level of genetic differentiation and genetic structure in a Chinese native chicken breed, Bian chicken, and two controlled chicken populations (Jinghai chicken and Youxi chicken in China) were analysed based on 29 microsatellite markers. A total of 166 distinct alleles were observed across the 3 breeds, and 32 of these alleles (19.3%) were unique to only 1 breed. Bian chicken carried the largest number of private alleles at 15 (46.9%), followed by the Jinghai chicken with 12 private alleles (37.5%). The average polymorphism information content (0.5168) and the average expected heterozygote frequency (0.5750) of the Bian chicken were the highest, and those of the Jinghai chicken were 0.4915 and 0.5505, respectively, which were the lowest. Among 29 microsatellite loci, there were 15 highly informative loci in Bian chicken, and the other 14 were reasonably informative loci. The highly informative loci in Jinghai chicken and Youxi chicken were 17 and 14 respectively. Significant deviations from the Hardy-Weinberg equilibrium were observed at several locus-breed combinations, showing a deficit of heterozygotes in many cases. As a whole, genetic differentiation among the breeds estimated by the fixation index (Fst) were at 6.7% (p<0.001). The heterozygote deficit within population (Fis) was 22.2% (p<0.001), with the highest (0.249) in Bian chicken and lowest (0.159) in Youxi chicken. These results serve as an initial step in the plan for genetic characterization and conservation of the Chinese chicken genetic resource of Bian, as well as Jinghai and Youxi chickens.

Lack of Association between Hsa-Mir-499 rs3746444 Polymorphism and Cancer Risk: Meta-analysis Findings

  • Jiang, Sheng-Gao;Chen, Lin;Tang, Jin-Hai;Zhao, Jian-Hua;Zhong, Shan-Liang
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권1호
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    • pp.339-344
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    • 2015
  • Epidemiologic findings concerning the association between the hsa-mir-499 rs3746444 A>G polymorphism and cancer risk have yielded mixed results. We aimed to investigate the association by performing a meta-analysis of all available studies. We searched PubMed and EMBASE for studies published up to November 2014, using odds ratios (ORs) with 95% confidence intervals (CIs) to assess the strength of any association. The Benjamini-Hochberg (BH) method was used to correct the p values for multiple comparisons. We included 39 studies, including 14,136 cases and 16,937 controls. The results of overall meta-analysis suggested a borderline association between hsa-mir-499 rs3746444 polymorphism and cancer susceptibility (AG+GG vs. AA: OR=1.15, 95% CI=1.04-1.26, corrected p value=0.04). After removing studies not conforming to Hardy-Weinberg equilibrium (HWE), however, this association disappeared (AG+GG vs AA: OR=1.18, 95% CI=1.03-1.34, corrected p value=0.21). When stratified analysis by ethnicity, cancer type or HWE in controls, although some associations between hsa-mir-499 rs3746444 polymorphism and cancer susceptibility were detected, these associations no longer existed after adjustment using BH method. In conclusion, our meta-analysis suggests that hsa-mir-499 rs3746444 A>G polymorphism is not associated with risk of cancer based on current evidence.

Lack of Association Between LIG4 Gene Polymorphisms and the Risk of Breast Cancer: A HuGE Review and Meta-analysis

  • Zhou, Li-Ping;Luan, Hong;Dong, Xi-Hua;Jin, Guo-Jiang;Man, Dong-Liang;Shang, Hong
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권7호
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    • pp.3417-3422
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    • 2012
  • Objective: Non-homologous end joining (NHEJ) is one of the pathways of repair of DNA double-strand breaks. A number of genes involved in NHEJ have been implicated as breast cancer susceptibility genes such as LIG4. However, some studies have generated conflicting results. The aim of this Human Genome Epidemiology (HuGE) review and meta-analysis was to investigate association between LIG4 gene polymorphisms in the NHEJ pathway and breast cancer risk. Methods: Studies focusing on the relationship between LIG4 gene polymorphisms and susceptibility to breast cancer were selected from the Pubmed, Cochrane library, Embase, Web of Science, Springerlink, CNKI and CBM databases. Data were extracted by two independent reviewers and the meta-analysis was performed with Review Manager Version 5.1.6 and STATA Version 12.0 software, calculating odds ratios (ORs) with 95% confidence intervals (95%CIs). Results: According to the inclusion criteria, we final included seven studies with a total of 10,321 breast cancer cases and 10,160 healthy controls in the meta-analysis. The results showed no association between LIG4 gene polymorphisms (rs1805386 T>C, rs1805389 C>T, rs1805388 C>T and rs2232641 A>G) and breast cancer risk, suggesting that the mutant situation of these SNPs neither increased nor decreased the risk for breast cancer. In the subgroup analysis by Hardy-Weinberg equilibrium (HWE) and ethnicity, we also found no associations between the variants of LIG4 gene and breast cancer risk among HWE, non-HWE, Caucasians, Asians and Africans. Conclusion: This meta-analysis suggests that there is a lack of any association between LIG4 gene polymorphisms and the risk of breast cancer.

Association of XRCC1 Arg399Gln Polymorphism with Colorectal Cancer Risk: A HuGE Meta Analysis of 35 Studies

  • Forat-Yazdi, Mohammad;Gholi-Nataj, Mohsen;Neamatzadeh, Hossein;Nourbakhsh, Parisa;Shaker-Ardakani, Hossein
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권8호
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    • pp.3285-3291
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    • 2015
  • Background: Non-synonymous polymorphisms in XRCC1 hase been shown to reduce effectiveness of DNA repair and be associated with risk of certain cancers. In this study we aimed to clarify any association between XRCC1 Arg399Gln and colorectal cancer (CRC) risk by performing a meta-analysis of published case-control studies. Materials and Methods: PubMed and Google Scholar were searched to explore the association between XRCC1 and CRC. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to estimate the association strength. Publication bias was assessed by Egger's and Begg's tests. Results: Up to January 2015, 35 case control studies involving 9,114 CRC cases and 13,948 controls were included in the present meta-analysis. The results showed that the Arg399Gln polymorphism only under an allele genetic model was associated with CRC risk (A vs. G: OR 0.128, 95% CI 0.119-0.138, p<0.001). Also, this meta-analysis suggested that the XRCC1 Arg399Gln polymorphism might associated with susceptibility to CRC in Asians (A vs G: OR 0.124, 95% CI 0.112-0.138, p<0.001) and Caucasian (A vs G: OR 0.132, 95% CI 0.119-0.146, p<0.001) only under an allele genetic model. Conclusions: This meta-analysis confirms the association between XRCC1 Arg399Gln polymorphism and CRC risk and suggests that the heterogeneity is not strongly modified by ethnicity and deviation from the Hardy-Weinberg equilibrium.

Impact of Tobacco on Glutathione S Transferase Gene Loci of Indian Ethnics

  • Senthilkumar, K.P.;Thirumurugan, Ramasamy
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권10호
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    • pp.5037-5042
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    • 2012
  • Background: Tobacco contains agents which generate various potent DNA adducts that can cause gene mutations. Production of DNA adducts may be neutralized by glutathione S transferase (GST) along with other phase I and phase II enzyme systems. The existence of null type of GST among the population increases the susceptibility to various disorders and diseases. The present study focuses on the impact of high tobacco usage and possible null type mutation in GST loci. Methods: Genotypes of GST were detected by multiplex polymerase chain reaction in unrelated 504 volunteers of high tobacco using natives of Gujarat. Allelic frequencies were calculated using Statistical Package for Social Studies-16 software. Hardy Weinberg Equilibrium (HWE) was calculated using Chi square test. Two sided Fisher's significance test was used to compare allelic frequencies of different populations. Results: The frequency of homozygous null genotype of GSTM1 and GSTT1 were 20% (95% CI 16.7-23.9) and 35.5% (95% CI 31.4-39.9) respectively. The GSTM1 and GSTT1 null allele frequency distribution in the Gujarat population was significantly deviating from HWE. GSTT1 null frequency of Gujaratians was significantly higher and different to all reported low tobacco using Indian ethnics, while GSTM1 was not differing significantly. Conclusion: Tobacco usage significantly influences the rate of mutation and frequency of GSTT1 and M1 null types among the habituates. The rate of mutation in GSTT1 loci was an undeviating response to the dose of tobacco usage among the population. This mutational impact of tobacco on GSTT1 postulates the possible gene - environment interaction and selection of null genotype among the subjects to prone them under susceptible status for various cancers and even worst to cure the population with GSTT1 dependent drugs.

Effects of the Cyclin D1 Polymorphism on Lung Cancer Risk - a Meta-analysis

  • Li, Yue;Zhang, Shuai;Geng, Jian-Xiong;Yu, Yan
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권5호
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    • pp.2325-2328
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    • 2012
  • Background: Cyclin D1 (CCND1) is critical in the transition of the cell cycle from G1 to S phases and unbalanced cell cycle regulation is a hallmark of carcinogenesis. A number of studies conducted to assess the association between CCND1 G870A polymorphism and susceptibility to lung cancer have yielded inconsistent and inconclusive results. In the present study, the possible association above was assessed by a meta-analysis. Methods: Eligible articles were identified for the period up to November 2011. Pooled odds ratios (OR) with 95% confidence intervals (95%CI) were appropriately derived from fixed effects or random-effects models. Sensitivity analysis excluding studies whose genotype frequencies in controls significantly deviated from the Hardy-Weinberg equilibrium (HWE) was performed. Results: Ten case-control studies with a total of 10,548 subjects were eligible. At the overall analysis the CCND1 870A allele appeared to be associated with elevated lung cancer risk (for allele model, pooled OR = 1.24, 95% CI: 1.08-1.44, P = 0.004; for homozygous model, pooled OR = 1.45, 95% CI: 1.14-1.84, P = 0.003; for recessive model, pooled OR = 1.29, 95% CI: 1.06-1.58, P = 0.013; for dominant model, pooled OR = 1.33, 95% CI: 1.08-1.65, P = 0.009). Subgroup analyses by ethnicity and sensitivity analysis further pointed to associations, particularly in Asians. Conclusion: This meta-analysis suggests that the A allele of CCND1 G870A polymorphism confers additional lung cancer risk.

STUDIES ON BIOCHEMICAL POLYMORPHISM OF MILK PROTEIN AS GENETIC MARKERS IN PIGS

  • Chung, E.R.;Han, S.K.;Shin, Y.C.;Chung, H.Y.;Kim, J.E.
    • Asian-Australasian Journal of Animal Sciences
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    • 제5권2호
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    • pp.285-294
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    • 1992
  • Biochemical polymorphisms of sow's milk proteins, $\beta$-casein ($\beta$-CN), $\beta$-lactoglobulin ($\beta$-LG), post-lactoglobulin (post-LG), $\alpha$-lactalbumin ($\alpha$-LA) and X-protein, as genetic markers for major pig breeds (Landrace, Yorkshire, Duroc, Hampshire and cross bred) in Korea were determined by starch gel electrophoresis. Phenotype and gene frequencies at all marker loci were estimated and genetic differences among breed populations were analyzed. Three $\beta$-CN phenotypes (AA, AB and BB) controlled by two codominant alleles (${\beta}-CN^A$ and ${\beta}-CN^B$), four $\beta$-LG phenotypes (AA, AC, $AC^{\pm}$ and CC) controlled by two codominant alleles (${\beta}-LG^A$ and ${\beta}-LG^C$) and ten X-protein phenotypes (AA, BB, CC, DD, AB, AC, AD, BC, BD and CD) controlled by four codominant alleles ($X^A,\;X^B,\;X^C\;and\;X^D$) were identified. In addition, a genetically controlled polymorphism of post-LG was found for the first time in sow's milk protein. Three different phenotypes (AA, AB and BB) were designated $post-LG^A$ and $post-LG^B$. Of the five marker loci examined, $\alpha$-LA locus was observed to lack any individual variation in all breeds studied. All populations were in Hardy-Weinberg equilibrium for all loci. There were marked breed differences for phenotype and gene frequencies in the post-LG and X-protein marker loci. However, there were little differences between breeds in the gene frequencies at the $\beta$-CN and $\beta$-LG marker loci.

PIK3CA and AKT Gene Polymorphisms in Susceptibility to Osteosarcoma in a Chinese Population

  • He, Mao-Lin;Wu, Yang;Zhao, Jin-Min;Wang, Zhe;Chen, Ying-Bin
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권9호
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    • pp.5117-5122
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    • 2013
  • Purpose: To explore the association between PIK3CA and AKT single nucleotide polymorphisms(SNP) and osteosarcoma susceptibility. Methods: TaqMan polymerase chain reaction(PCR) was used to detect the genotypes of SNPs (rs7646409, rs6973569 and rs9866361) in peripheral blood samples from 59 patients with osteosarcoma and from 63 healthy controls. Unconditional logistic regression was used to analyze the correlation between SNPs and osteosarcoma risk. Results: No statistically significant difference was found between osteosarcoma patients and healthy controls in the genotype of AKT rs6973569 (P=0.7). However, after stratified analysis, the genotype AA of AKT rs6973569 carried a higher risk of osteosarcoma metastasis (OR:2.94, 95%CL:1.00-8.59); the difference of rs7646409 genotype distributions between the case and control groups was statistically significant (P=0.032). Taking genotype TT as a reference, the risk of osteosarcoma increased three fold in patients with genotype CC (OR:3.47, 95%CL:1.26-9.56). A statistically significant difference was found between the alleles C and T (P=0.005). Further analysis showed that the risk factor was more pronounced in male patients with Enneking's stage IIB and osteoblastic osteosarcoma. PIK3CA rs9866361 did not fit Hardy-Weinberg equilibrium (P<0.05). Conclusions: Genotype CC in locus PIK3CA rs7646409 may increase the risk of osteosarcoma in the Chinese population.

NC/Nga 마우스 전혈을 이용한 항 아토피 피부염 물질 탐색 (Screening of Anti-Atopic Dermatitis Material by Using NC/Nga Mouse Whole Blood System)

  • 박동훈;김연욱
    • IMMUNE NETWORK
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    • 제8권3호
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    • pp.98-105
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    • 2008
  • Background: Allergic inflammation was induced by activated Th2 lymphocytes, leading to IgE production and eosinophil activation. A Th2 disproportion was shown in atopic children soon after birth. During specific allergen stimulation, an increase of Th2 cells was observed in most cases. In this study, we prepared new screening "whole blood" system for searching the anti-atopic materials. Cytokine production and IgE secretion from whole blood system were assessed and we confirmed the results by using animal system. Methods: Pathological features in NC/Nga mice are similar to those observed in human atopic dermatitis. Whole blood from NC/Nga mouse was stimulated by using TNCB (Th2 activator) or candidate materials of anti-atopic dermatitis, and the production of cytokines (IL-4, IL-12, and IFN-${\gamma}$) were measured by ELISA. In order to confirm the results of whole blood system, in vivo test was done by using NC/Nga mice. Results: In whole blood system, LPS and extracts of green tea, hardy orange and onion induced the production of IL-12 and IFN-${\gamma}$ while they reduced the production of IL-4. Also, LPS and extracts of onion reduced IgE production. Though atopic dermatitis was observed from a mouse stimulated with TNCB, it was not when a mouse was co-stimulated in LPS or extracts of onion. The results are same as those observed in whole blood system. Conclusion: Whole blood system was simple and speedy methods for searching a materials compared with the conventional high-cost animal system. And the results using whole blood system was proved to be reliable in our experiments for screening anti-atopic material. We expect that the system can be applied to other experiments for searching similar materials.