• Asian Pacific Journal of Cancer Prevention
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• 제16권11호
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• pp.4659-4664
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• 2015

Background: ABC proteins are one key type of transport superfamilies which undertake majority of drug transport, which affect the osteosarcoma response to chemotherapeutics. Previous studies have suggested the association between ABC polymorphisms and osteosarcoma response. However, the results of previous studies remain controversial. Therefore, we perform a meta-analysis to get a more precise estimation of this association. The association between ABC polymorphisms and osteosarcoma response was assessed by odds ratios (ORs) together with their 95% confidence intervals (CIs). Three polymorphisms of ABC including ABCB1 rs1128503, ABCC3 rs4148416 and ABCC2 rs717620 polymorphism were investigated. Overall, significant association was observed between ABCC3 rs4148416 polymorphism and osteosarcoma response under allele contrast (T vs. C: OR=1.73, 95%CI=1.09-2.74, P=0.019), homozygote comparison (TT vs. CC: OR=2.00, 95%CI=1.25-3.23, P=0.004), recessive genetic model (TT vs. TC/CC: OR=1.80, 95%CI=1.14-2.84, P=0.011) and dominant genetic model (TT/TC vs. CC: OR=1.70, 95%CI=1.20-2.42, P=0.003). Moreover, significant association was also observed in Caucasian population rather than Asian population for ABCB1 rs1128503 polymorphism. We conclude that ABCC3 rs4148416 polymorphism was significantly associated with poor osteosarcoma response and ABCB1 rs1128503 polymorphism was significantly associated with good osteosarcoma response in Caucasian population rather than Asian population.

• Asian Pacific Journal of Cancer Prevention
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• 제16권6호
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• pp.2263-2268
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• 2015

Background: Many studies have reported associations of the X-ray repair cross-complementing group 3 (XRCC3) Thr241Met polymorphism with colorectal cancer (CRC) risk, but the results remained controversial. Hence, we performed the present meta-analysis with different inheritance models. Materials and Methods: We searched the PubMed and Google scholar databases for studies relating to associations between XRCC3 Thr241Met polymorphism and risk of CRC. 16 studies with 5,193 cases and 6,645 controls were finally included into the meta-analysis. Results: We found that the XRCC3 Thr241Met polymorphism was associated with increased CRC risk only under a dominant genetic model (CC+CT vs. TT: OR 0.575, 95%CI 0.498-1.665, p<0.001, $P_{heterogeneity}=0.00$, $I^2=83%$). There was a significant association between XRCC3 Thr241Met polymorphism and CRC risk in Caucasian in the overall 8 studies under only in the heterozygote genetic model (CT vs. TT: OR=0.929, 95%CI =0.806-1.070, P=0.308, $P_{heterogeneity}=0.002$, $I^2=57%$). Four studies evaluated the XRCC3 Thr241Met polymorphism and CRC risk in Asians. Two genetic models of the XRCC3 polymorphism were significantly correlated with increasing risk in Asians (dominant model: CC+CT vs. TT: OR= 0.609, 95%CI=411-0.902, P=0.013, $P_{heterogeneity}=0.54$, $I^2=0.00%$; Allele model: C vs. T: OR=0.708, 95 %=CI 0.605-0.829, p=0.000, $P_{heterogeneity}=0.000$, $I^2=92%$). The sensitivity analysis suggested stability of this meta-analysis and no publication bias was detected. Conclusions: In conclusion, this meta-analysis indicates that XRCC3 Thr241Met shows an increased CRC risk, particularly in Asians rather than Caucasians.

• Genomics & Informatics
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• 제11권3호
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• pp.135-141
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• 2013

Gene set analysis is a powerful tool for interpreting a genome-wide association study result and is gaining popularity these days. Comparison of the gene sets obtained for a variety of traits measured from a single genetic epidemiology dataset may give insights into the biological mechanisms underlying these traits. Based on the previously published single nucleotide polymorphism (SNP) genotype data on 8,842 individuals enrolled in the Korea Association Resource project, we performed a series of systematic genome-wide association analyses for 49 quantitative traits of basic epidemiological, anthropometric, or blood chemistry parameters. Each analysis result was subjected to subsequent gene set analyses based on Gene Ontology (GO) terms using gene set analysis software, GSA-SNP, identifying a set of GO terms significantly associated to each trait ($p_{corr}$ < 0.05). Pairwise comparison of the traits in terms of the semantic similarity in their GO sets revealed surprising cases where phenotypically uncorrelated traits showed high similarity in terms of biological pathways. For example, the pH level was related to 7 other traits that showed low phenotypic correlations with it. A literature survey implies that these traits may be regulated partly by common pathways that involve neuronal or nerve systems.

• Asian-Australasian Journal of Animal Sciences
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• 제26권12호
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• pp.1665-1671
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• 2013

Real-time quantitative PCR (qRT-PCR) is one of the important methods for investigating the changes in mRNA expression levels in cells and tissues. Selection of the proper reference genes is very important when calibrating the results of real-time quantitative PCR. Studies on the selection of reference genes in goat tissues are limited, despite the economic importance of their meat and dairy products. We used real-time quantitative PCR to detect the expression levels of eight reference gene candidates (18S, TBP, HMBS, YWHAZ, ACTB, HPRT1, GAPDH and EEF1A2) in ten tissues types sourced from Boer goats. The optimal reference gene combination was selected according to the results determined by geNorm, NormFinder and Bestkeeper software packages. The analyses showed that tissue is an important variability factor in genes expression stability. When all tissues were considered, 18S, TBP and HMBS is the optimal reference combination for calibrating quantitative PCR analysis of gene expression from goat tissues. Dividing data set by tissues, ACTB was the most stable in stomach, small intestine and ovary, 18S in heart and spleen, HMBS in uterus and lung, TBP in liver, HPRT1 in kidney and GAPDH in muscle. Overall, this study provided valuable information about the goat reference genes that can be used in order to perform a proper normalisation when relative quantification by qRT-PCR studies is undertaken.

• Asian Pacific Journal of Cancer Prevention
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• 제15권22호
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• pp.10009-10013
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• 2014

Background: Vitamin D receptor (VDR) gene has been a subject of extensive pharmacogenetic research recently. Association studies between different types of cancers including prostate cancer (PCa) and VDR gene polymorphism have also been conducted. The objective of this study was to find possible associations between PCa and VDR gene polymorphisms in the Pakistani population. Materials and Methods: A total of 162 subjects, including prostate cancer patients and controls, were genotyped for Apa I, Taq I and Fok I polymorphisms in the VDR gene using allele specific PCR, PCR-RFLP and direct DNA sequencing. Allelic frequencies were tested for Hardy-Weinberg equilibrium and associations between the genetic markers and PCa were calculated using logistic regression. Results: Apa I CC genotype was found to have strongest association with PCa risk, and "A" genotype was found to have protective effect. Fok I and Taq I did not have appreciable levels of association with PCa, although Taq I "TC" heterozygotes seemed to have some protective effect. Similarly the "C" allele of Fok I also seemed to have protective effect. Conclusions: To our knowledge, this is the first report showing association between VDR gene polymorphisms and PCa in Pakistan. Our findings may be somewhat skewed because of small sample size and tendency of consanguineous marriages in Pakistani society; nevertheless, it shows the trend of association and protective effects of certain VDR gene polymorphisms against PCa.

• Genomics & Informatics
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• 제21권3호
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• pp.29.1-29.9
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• 2023

Preterm birth (PTB), a pregnancy-related disease, is defined as a birth before 37 weeks of gestation. It is a major cause of maternal mortality and morbidity worldwide, and its incidence rate is steadily increasing. Various genetic factors can contribute to the etiology of PTB. Vascular endothelial growth factor A (VEGFA) gene is an important angiogenic gene and its polymorphisms have been reported to be associated with PTB development. Therefore, we conducted a case-control study to evaluate the association between VEGFA rs699947, rs2010963, and rs3025039 polymorphisms and PTB in Korean women. A total of 271 subjects (116 patients with PTB and 155 women at ≥38 weeks of gestation) were analyzed in this study. The genotyping of VEGFA gene polymorphisms was performed using polymerase chain reaction- restriction fragment length polymorphism. No significant association between the patients with PTB and the control groups was confirmed. In the combination analysis, we found a significant association between PTB and VEGFA rs699947 CC-rs2010963 GG-rs3025039 CC combination (odds ratio, 3.77; 95% confidence interval, 1.091 to 13.032; p = 0.031). The VEGFA rs699947, rs2010963, and rs3025039 polymorphisms might have no genetic association with the pathogenesis of PTB in Korean women. However, the combination analysis indicates the possibility that VEGFA acts in PTB pathophysiology. Therefore, larger sample sets and replication studies are required to further elucidate our findings.

• Asian-Australasian Journal of Animal Sciences
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• 제22권5호
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• pp.747-755
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• 2009

The feed resource for animals is a major cost determinant for profitability in livestock production enterprises, and thus any effort at improving the efficiency of feed use will help to reduce feed cost. Feed conversion ratio, expressed as feed inputs per unit output, is a traditional measure of efficiency that has significant phenotypic and genetic correlations with feed intake and growth traits. The use of ratio traits for genetic selection may cause problems associated with prediction of change in the component traits in future generations. Residual feed intake, a linear index, is a trait derived from the difference between actual feed intake and that predicted on the basis of the requirements for maintenance of body weight and production. Considerable genetic variation exists in residual feed intake for cattle and pigs, which should respond to selection. Phenotypic independence of phenotypic residual feed intake with body weight and weight gain can be obligatory. Genetic residual feed intake is genetically independent of its component traits (body weight and weight gain). Genetic correlations of residual feed intake with daily feed intake and feed conversion efficiency have been strong and positive in both cattle and pigs. Residual feed intake is favorably genetically correlated with eye muscle area and carcass weight in cattle and with eye muscle area and backfat in pigs. Selection to reduce residual feed intake (excessive intake of feed) will improve the efficiency of feed and most of the economically important carcass traits in cattle and pigs. Therefore, residual feed intake can be used to replace traditional feed conversion ratio as a selection criterion of feed efficiency in breeding programs. However, further studies are required on the variation of residual feed intake during different developmental stage of production.

• Asian-Australasian Journal of Animal Sciences
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• 제19권9호
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• pp.1252-1256
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• 2006

This study estimated the effects of parity (1-3) and stage of lactation (early, mid and late) on daily milk yield (DMY), somatic cell score (SCS), milk urea nitrogen (MUN), blood glucose, and immunoglobulin G (IgG), their heritabilities and genetic correlations between them in Holsteins (n = 200). Means and standard deviations of DMY, SCS, MUN, blood glucose, and IgG in the experimental herd were $23.35{\pm}7.75kg$, $3.81{\pm}2.00$, $13.99{\pm}5.68mg/dl$, $44.91{\pm}13.12mg/dl$, and $30.36{\pm}6.72mg/ml$, respectively. DMY was the lowest in first parity, and in late lactation. SCS increased with parity; however, it was lowest in mid-lactation. MUN was lowest in first parity, and no difference was noted across stage of lactation. Blood glucose was similar between parities, however the highest blood glucose was observed during mid lactation. IgG level was significantly different between first and second parity; however, stage of lactation did not affect its level. Heritability of DMY was 0.16. Its genetic correlations with SCS and with blood glucose were -0.67 and 0.98, respectively. Heritability of SCS was 0.15. Genetic correlations of SCS with MUN, glucose, and IgG were -0.72, -0.59, and 0.68, respectively. Heritability of MUN was estimated to be 0.39 and had a genetic correlation of -0.35 with IgG. Heritabilities of blood glucose and IgG were 0.21 and 0.33, respectively. This study suggested that MUN, blood glucose and IgG could be considered important traits in future dairy selection programs to improve milk yield and its quality with better animal health and welfare. However, further studies are necessary involving more records to clarify the relationship between metabolic and immunological traits with DMY and its quality.

• Asian-Australasian Journal of Animal Sciences
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• 제19권11호
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• pp.1524-1528
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• 2006

A total of 437 animals, comprising lambs aged between 3 and 12 months and adults of either sex of Muzaffarnagari sheep maintained at the Central Institute for Research on Goats, Makhdoom, Farah, Mathura, India were screened to assess the prevalence of Haemonchus contortus infection following natural infection and to identify the various factors affecting faecal egg count (FEC) and packed cell volume (PCV) of ewes and their genetic control. The relationships between FEC, PCV and body weight were also estimated. The prevalence rate for H. contortus infection in the flock under study was 15.7% indicating much lower occurrence of worm infection in lambs up to one year of age. On the other hand, a large proportion i.e., 67.7% of sheep was refractive to natural H. contortus infection. The random effect of sire significantly contributed (p<0.01) variation in log-transformed FEC (LFEC) of ewes. The season of birth had a significant (p<0.01) effect on LFEC of ewes. The lactating ewes had significantly (p<0.01) higher faecal egg counts compared to dry and pregnant ewes. The linear regression effects of the age of ewes on LFEC of animals were significant (p<0.01) in the present study. The heritabilities of LFEC, PCV and body weights of ewes during the course of infection were moderate to high in magnitude and ranged from 0.24 to 0.47. The LFEC of ewes was significantly (p<0.05) and negatively correlated with PCV at both genetic and phenotypic level. The genetic and phenotypic relationships between LFEC and body weights of ewes were -0.26 and -0.06 for this breed. The genetic correlation of PCV and body weight of ewes was positive and high (0.58) and statistically significant (p<0.05) but it was negatively correlated (-0.01) with body weight at the phenotypic level.

• Journal of Crop Science and Biotechnology
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• 제11권2호
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• pp.83-90
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• 2008

Two hundred and sixty Korean soybean landrace accessions were analyzed for polymorphism at 92 simple sequence repeat(SSR) loci. The 995 identified alleles served as raw data for estimating genetic diversity and population structure. The number of alleles at a locus ranged from three to 27 with a mean of 10.4 alleles per locus. $F_{ST}$ values estimated by analysis of molecular variance(AMOVA) using SSR data set were 0.018, 0.027, and 0.016 for usage, collection site and maturity groups, respectively, indicating little genetic differentiation. The model-based clustering analysis placed the accessions into three clusters(K=3) with 0.0503 of $F_{ST}$, indicating moderate genetic differentiation. Duncan's Multiple Range Test at K = 3 on the basis of 18 quantitative traits revealed that one cluster was mainly differentiated from the other two clusters by seed related traits and the other two clusters were differentiated from each other by biochemical traits. Genetic structure of Korean soybean landraces was differentiated by model-based clustering and supported by their phenotypic traits in part. This preliminary study could be the first step towards more efficient germplasm management and utilization of soybean landraces and helpful in association studies between genotypic and phenotypic traits in Korean soybean landraces.