• Asian Pacific Journal of Cancer Prevention
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• v.15 no.11
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• pp.4443-4448
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• 2014

Background: A number of studies have reported the association of X-ray repair cross-complementing group 1 (XRCC1) Arg399Gln polymorphism with susceptibility to hepatocellular carcinoma (HCC). However, the results were inconsistent and inconclusive. The aim of this study was to comprehensively explore the association of XRCC1 Arg399Gln variant with HCC risk. Materials and Methods: Systematic searches of PubMed, Elsevier, Science Direct, CNKI and Chinese Biomedical Literature Database were performed. Pooled odds ratio (OR) with 95% confidence intervals (CI) was calculated to estimate the strength of association. Results: Overall, we observed an increased HCC risk among subjects carrying XRCC1 codon 399 Gln/Gln, Arg/Gln and Gln/Gln+Arg/Gln genotypes (OR=1.20, 95%CI: 1.05-1.38, OR=1.16, 95%CI: 1.05-1.28, and OR=1.14, 95%CI: 1.04-1.24, respectively) based on 20 studies including 3374 cases and 4633 controls. In subgroup analysis, we observed an increased risk of XRCC1 codon 399 Gln/Gln, Arg/Gln and Gln/Gln+Arg/Gln polymorphisms for HCC in hospital-based study (OR=1.25, 95%CI: 1.03-1.51, OR=1.21, 95%CI: 1.07-1.36 and OR=1.18, 95%CI: 1.06-1.31, respectively) and in Asian population (OR=1.19, 95%CI: 1.03-1.38, OR=1.17, 95%CI: 1.04-1.30 and OR=1.14, 95%CI: 1.04-1.25, respectively). Limiting the analysis to the studies with controls in agreement with Hardy-Weinberg equilibrium (HWE), we observed an increased HCC risk among Gln/Gln, Arg/Gln and Gln/ Gln+Arg/Gln genotype carriers (OR=1.17, 95%CI: 1.05-1.29, OR=1.12, 95%CI: 1.00-1.25 and OR=1.11, 95%CI: 1.02-1.21, respectively). Conclusions: This updated meta-analysis results suggest that XRCC1 Arg399Gln variants may contribute to HCC risk. Well-designed studies with larger sample size were required to further verify our findings.

• Korean Journal of Psychosomatic Medicine
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• v.16 no.1
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• pp.47-51
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• 2008

Objectives : The aim of this study was to investigate the relationship between the norepinephrine(NET) transporter T-182C polymorphism and anxiety-related traits in Korean adolescent females. Methods : One hundred sixty-nine Korean adolescent females were tested for the NET T-182C polymorphism by PCR based methods; anxiety-related traits were evaluated using the anxiety sensitivity index(ASI) and the trait form of the Spielberg State-Trait Anxiety inventory(STAI-T). Results : Scores of anxiety related traits were not different between genotypes. Comparison between T allele carries and non carriers revealed no significant difference. Conclusion : These findings suggest that the NET T-182C polymorphism is not associated with anxiety-related traits in Korean female adolescents.

• Genomics & Informatics
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• v.8 no.4
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• pp.206-211
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• 2010

The Fas (TNF receptor superfamily, member 6) (FAS)/FAS ligand (FASLG) interaction plays a central role in the regulation of programmed cell death. FAS and FASLG polymorphisms in promoter regions affect transcriptional activities. To investigate whether FAS and FASLG polymorphisms are associated with the development and clinical phenotypes of stroke, 2 promoter single nucleotide polymorphisms (SNPs) in FAS (rs1800682, -670C/T) and FASLG (rs763110, -844C/T) were selected and genotyped by direct sequencing in 220 stroke patients [107 ischemic stroke (IS), 77 intracerebral hemorrhage (ICH), and 36 subarachnoid hemorrhage (SAH)] and 369 control subjects. For the analysis of clinical symptoms, all stroke patients were divided into 3 clinical phenotypes according to the respective results of the National Institutes of Health Stroke Survey (NIHSS) and the Modified Barthel Index (MBI) and the presence or absence of complex regional pain syndrome (CRPS). The SNPStats, SNPAnalyzer, and Helixtree programs were used to analyze the genetic data. Multiple logistic regression models (codominant, dominant, and recessive) were used to estimate odds ratios (ORs), 95% confidence intervals (CIs), and p-values. The promoter SNP rs1800682 was associated with stroke in the codominant (OR=0.48, 95% CI=0.25-0.94, p=0.04) and dominant models (OR=0.51, 95% CI=0.30-0.87, p=0.011). However, a FASLG SNP (rs763110) was not in Hardy-Weinberg equilibrium (p<0.05). In the analysis of stroke types, rs1800682 was associated with IS in the codominant (OR=0.30, 95% CI=0.12-0.74, p=0.025), dominant (OR=0.44, 95% CI=0.23-0.88, p=0.018), and recessive models (OR=0.45, 95% CI=0.21-0.99, p=0.042). The genotype frequencies of rs1800682 were different between ICH and controls in the dominant model (OR=0.49, 95% CI=0.26-0.94, p=0.031) but not between SAH and controls. In the analysis of clinical symptoms, however, rs1800682 was not related to the 3 clinical phenotypes (NIHSS, MBI, and CRPS). These results suggest that a promoter SNP (rs1800682, -670C/T) in FAS may be associated with the development of stroke in the Korean population.

• Journal of Korean Society of Forest Science
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• v.105 no.4
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• pp.414-421
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• 2016

Fourteen Acer pseudosieboldianum populations in South Korea were used to estimate genetic diversity, genetic differentiation and genetic relationships using seven AFLP primer combinations. The average of effective alleles ($A_e$), the proportion of polymorphic loci (%P) and Shannon's diversity index (I) was 1.4, 82.2% and 0.358, respectively. The expected heterozygosity ($H_e$) under Hardy-Weinberg equilibrium was 0.231 and the expected heterozygosity (Hj) from Bayesian inference was 0.253. The level of genetic diversity was moderate compared to those of Genus Acer and lower than those of other species having similar ecological niche and life history. The inbreeding coefficient within populations ($F_{IS}$) from Bayesian method was 0.712 and it could be influenced by selfing or biparental inbreeding to induce homozygote excess. The level of genetic differentiation was 0.107 from AMOVA (${\Phi}_{ST}$) and 0.110 from Bayesian method (${\Phi}^{II}$). The genetic differentiation was lower than those of other species having similar ecological niche and life history. Ulleungdo population had the lowest level of genetic diversity and was genetically the most distinct population from others in the study. We consider that founder effect and genetic drift might be occurred to reduce genetic diversity and then the geographical isolation might interrupt gene flow to aggravate it.

• Asian-Australasian Journal of Animal Sciences
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• v.22 no.8
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• pp.1078-1084
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• 2009

The Jindo dog is a Korean natural monument and is recognized by the Fédération Cynologique Internationale. A prominent feature is the diverse coat color within the breed. To analyze the genetic basis of variation in the Jindo coat color, we sequenced the protein-coding regions of the melanocortin 1 receptor gene (MC1R). The MC1R coding sequence was determined from 154 dogs in five breeds (Jindo, Labrador Retriever, English Springer Spaniel, Belgian Malinois, and German Shepherd). To confirm the genetic structure of sampled populations, we tested for Hardy-Weinberg equilibrium (HWE) and computed $F_{st}$ The sample populations did not significantly deviate from HWE. $F_{st}$ was 0.02 between white and fawn Jindo dogs; this was lower than $F_{st}$ between breeds. Six single nucleotide polymorphisms (SNPs) were detected in the MC1R coding region. Among the six SNPs, five were non-synonymous (S90G, T105A, Q159P, M264V, and R306ter) and one was synonymous SNP (Y298Y). From the SNPs, we predicted four haplotypes (H1, H2, H3, and H4) for Jindo MC1R. Jindo dogs had different haplotypes corresponding to different coat colors. H1 was frequently observed in white Jindo dogs with an odds ratio of 5.03 (95% CI: 2.27-11.18, p<0.0001), whereas H2 and H4 were observed only in fawn Jindo dogs. Our findings indicate that SNP haplotype can influence coat color. Knowledge of MC1R haplotypes can help discriminate white and fawn coats in Jindo dogs. We hope this report will trigger more research into the genetics of this traditional Korean dog and will be a reference for dogs of Asian origin. Also, our results will provide a useful genetic marker for Jindo dog breeders who have selected for specific colors.

• Asian-Australasian Journal of Animal Sciences
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• v.25 no.2
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• pp.183-188
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• 2012

To investigate the influence of the prolactin receptor 3 (PRLR3) gene and the retinol-binding protein 4 (RBP4) gene on the production traits of swine, genotyping was performed on 156 and 141 Berkshire pigs, respectively, that were carefully selected for economic traits. The frequencies of allele A in the PRLR3 locus and allele B in the RBP4 locus were 0.50 and 0.42, respectively. Neither locus was in the Hardy-Weinberg equilibrium. After a genotype was assigned to the individuals whose parents had the homozygous genotype, a statistical analysis was conducted for 291 pigs. The animals with the PRLR3 and RBP4 genotypes included 182 and 227 head, respectively. Even though the genotypic effects of PRLR3 (p<0.05) and RBP4 (p<0.01) had a significant influence on the pigs' back fat thickness, the interaction of both genes was not highly significant in terms of the back fat thickness (p = 0.1235). While the estimated epistasis effects of aaBB and aaBb decreased the back fat thickness and reduced the growth rate, the effects of AAbb and aabb increased the growth rate. Despite the insignificant difference in the PRLR genotypes in terms of the days to 90 kg and the average daily gain, the back fat thickness showed a significant difference (p<0.05), and the additive effect of allele A and the dominant effect of the hetero-genotype were -0.377 and 1.206 mm, respectively. The RBP4 genotypes had a very significant effect (p<0.01) on the back fat thickness, the days to 90 kg, and the average daily gain. The additive effects of allele B of the RBP4 locus on the back fat thickness, the days to 90 kg, and the average daily gain were 0.70 mm, -1.3 days and 6.2 g, respectively. Moreover, the dominant effects of the heterozygote for those traits were 0.63 mm, 9.9 days and -45.0 g, respectively. Allele A of the PRLR3 locus favorably influenced the back fat thickness, the days to 90 kg of the body weight, and the average daily gain and its dominant effect unfavorably influenced those traits. Allele B of RBP4 showed an incremental growth rate and back fat thickness, which could lower the lean meat percentage in the carcass. The RBP4 hetero-genotype negatively affected the pork production. These results strongly imply that the selection of allele A of PRLR3 and allele B of RBP4 would produce highly productive pigs in the Berkshire breed. Careful selection of allele B of RBP4 is required because of the increase in the back fat thickness.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.2
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• pp.495-500
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• 2015

Background: Published studies have reported relationships between X-ray repair cross-complementing group 1 (XRCC1) Arg399Gln polymorphism and lung cancer risk in Chinese population. However, the epidemiological results remained controversial. The objective of this study was to clarify the association of XRCC1 Arg399Gln polymorphism with lung cancer risk in the Chinese population. Materials and Methods: Systematic searches were performed through the database of Medline/Pubmed, Web of Science, Embase, CNKI and WanFang Medical Online. Odds ratios (ORs) with 95% confidence interval (95%CI) were calculated to estimate the strength of the association. Results: Overall, we observed an increased lung cancer risk among subjects carrying XRCC1 codon 399 Gln/Gln genotype (OR=1.36, 95%CI: 1.09-1.71) in the Chinese population on the basis of 19 studies with 5,416 cases and 5,782 controls. We did not observe any association between XRCC1 codon 399 Arg/Gln and Arg/Gln+Gln/Gln polymorphisms and lung cancer risk (OR=1.00, 95%CI: 0.92-1.08 and OR=1.05, 95%CI: 0.97-1.13, respectively). Limiting the analysis to studies with controls in agreement with Hardy-Weinberg equilibrium (HWE), we observed an increased lung cancer risk among subjects carrying XRCC1 codon 399 Gln/Gln genotype (OR=1.18, 95%CI: 1.01-1.38). When stratified by source of control, we observed an increased lung cancer risk among subjects carrying XRCC1 codon 399 Arg/Gln+Gln/Gln genotype on the basis of hospitalized patient-based controls (OR=1.21, 95%CI: 1.04-1.42) and among subjects carrying XRCC1 codon 399 Gln/Gln genotype on the basis of healthy subject-based controls (OR=1.22, 95%CI: 1.04-1.43). Conclusions: Our findings indicated that certain XRCC1 Arg399Gln variants might affect the susceptibility of lung cancer in Chinese population. Larger sample size studies are required to confirm our findings.

• Korean Journal of Biological Psychiatry
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• v.11 no.1
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• pp.26-32
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• 2004

Background:The dopaminergic genes have been implicated with some personality traits. Many recent studies indicated that there is a correlation between D2 dopamine receptor gene(DRD2) polymorphisms and the personality traits. The purpose of this study is to investigate a possible association between DRD2 gene (TaqI A, TaqI B) polymorphism and personality traits. Methods:The subjects were consisted of 173 blood-unrelated young female Koreans with a mean age(${\pm}SD$) of 13.88(${\pm}0.29$) years. These volunteers were recruited from one of the junior high schools in Seoul and were tested by the Korean version of the Temperament and Character Inventory(TCI). Genotyping of the DRD2 polymorphisms by PCR methods were carried out. Two DRD2 gene polymorphisms were classified and individually assessed as follows:TaqI A1+ vs A1-, TaqI B1+ vs B-. The associations between the TCI scores and TaqI A, TaqI B polymorphisms were assessed by Student's t-test. Results:In the 173 subjects, the allele frequencies of the DRD2 TaqI A1, TaqI B1 alleles ranged from 0.42 to 0.43, and these results are quite different from the ranges of 0.15-0.20 in the case of a Caucasian population. The genotype frequencies of DRD2(TaqI A1, TaqI B1) variants showed no significant deviation from the Hardy-Weinberg equilibrium. RD4(dependence vs. independence) of Cloninger's TCI, a sub-dimension of Reward Dependence, was significantly higher in the subjects having DRD2 less frequent alleles than those without these alleles. Conclusion:This study suggests that the female subjects carrying the less frequent DRD2 alleles exhibited higher reward-dependent personality trait compared to those without these alleles.

• The Bulletin of The Korean Astronomical Society
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• v.35 no.1
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• pp.82-82
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• 2010

We measure the topology of the galaxy distribution using the Seventh Data Release of the Sloan Digital Sky Survey (SDSS DR7), examining the dependence of galaxy clustering topology on galaxy properties. The observational results are used to test galaxy formation models. A volume-limited sample defined by Mr<-20.19 enables us to measure the genus curve with amplitude of G=378 at 6h-1Mpc smoothing scale, with 4.8% uncertainty including all systematics and cosmic variance. The clustering topology over the smoothing length interval from 6 to 10h-1Mpc reveals a mild scale-dependence for the shift and void abundance (A_V) parameters of the genus curve. We find strong bias in the topology of galaxy clustering with respect to the predicted topology of the matter distribution, which is also scale-dependent. The luminosity dependence of galaxy clustering topology discovered by Park et al. (2005) is confirmed: the distribution of relatively brighter galaxies shows a greater prevalence of isolated clusters and more percolated voids. We find that galaxy clustering topology depends also on morphology and color. Even though early (late)-type galaxies show topology similar to that of red (blue) galaxies, the morphology dependence of topology is not identical to the color dependence. In particular, the void abundance parameter A_V depends on morphology more strongly than on color. We test five galaxy assignment schemes applied to cosmological N-body simulations to generate mock galaxies: the Halo-Galaxy one-to-one Correspondence (HGC) model, the Halo Occupation Distribution (HOD) model, and three implementations of Semi-Analytic Models (SAMs). None of the models reproduces all aspects of the observed clustering topology; the deviations vary from one model to another but include statistically significant discrepancies in the abundance of isolated voids or isolated clusters and the amplitude and overall shift of the genus curve. SAM predictions of the topology color-dependence are usually correct in sign but incorrect in magnitude.

• Asian-Australasian Journal of Animal Sciences
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• v.20 no.12
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• pp.1798-1804
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• 2007

The objective of this study was to assess the association of polymorphisms in MSTN and MYF5 genes with growth traits in three Chinese cattle breeds. Only one homozygous animal with BB genotype at MSTN locus was observed in Jiaxian population which was at Hardy-Weinberg disequilibrium (p<0.05). The frequencies of allele A at MSTN locus and allele B at MYF5 locus in the three Chinese breeds were 0.9550/0.9730/0.9720 and 0.8275/0.7581/0.7523, respectively. Allele A at MSTN locus and allele B at MYF5 locus were dominant in these three populations. No statistically significant differences in growth traits were observed between the genotypes of the Jiaxian breed at MSTN and MYF5 loci and the Nanyang breed at MYF5 locus. However, there were statistically significant differences between the genotypes at MSTN locus of the Nanyang breed for WH, HG, HGI and HGBLR (p<0.05), and of the Qinchuan breed for BLI (p<0.05). The SNP in MYF5 had significant effects on WH and HHC of Qinchuan animals (p<0.05). These results suggest that MSTN and MYF5 are strong candidate genes that influence growth traits in cattle. Other SNPs of MSTN and MYF5 or other linked genes should also be studied, which could lead to the development of selection plans to improve the performance of Chinese cattle and also promote the breeding of genuine beef cattle in China.