• Asian-Australasian Journal of Animal Sciences
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• v.23 no.8
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• pp.1089-1095
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• 2010

Four biological candidate genes, natural resistance associated macrophage protein 1 (SLC11A1 or NRAMP), prosaposin (PSAP), interferon Gamma (IFNG), and toll-like receptor 4 (TLR4), were examined to identify single nucleotide polymorphisms (SNP) and associations of the SNP with antibody response kinetics in hens. An $F_2$ population was produced by mating $G_0$ highly inbred (<99%) males of two MHC-congenic Fayoumi lines with highly inbred Leghorn hens. The $F_2$ hens (n = 158) were injected twice with SRBC and whole, fixed Brucella abortus (BA). Blood samples were obtained before each immunization, at 7 d after primary immunization, and at several time points after secondary immunization. Minimum titers (Ymin) and the time needed to reach them (Tmin), and maximum (Ymax) titers and the time needed to reach them (Tmax), were estimated from the seven post-secondary immunization titers using a nonlinear regression model. The $F_2$ hens were genotyped for the four candidate genes by using PCR-RFLP for one SNP per gene, which identified the parental allele. General linear models were used to test associations of SNP genotypes with antibody response parameters and BW measured at 4 ages. The IFNG SNP was highly significantly (p<0.0125) associated with primary response to SRBC, Tmin to BA, Ymin to BA, and 12-week BW. The current study demonstrated that the novel IFNG promoter SNP was associated with antibody kinetics for BA and SRBC in laying hens, and also with BW, suggesting that this cytokine may play a pivotal role in the relationship between immune function and growth.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.16
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• pp.6505-6510
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• 2014

Objective: This study was conducted to identify whether polymorphic variants of set domain-containing protein 8 (SET8) and tumor protein p53 (TP53) codon 72, either independently or jointly, might be associated with increased risk for cervical cancer. Methods: We genotyped SET8 and TP53 codon 72 polymorphisms of peripheral blood DNA from 114 cervical cancer patients and 200 controls using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct DNA sequencing. Results: The frequency of SET8 CC (odds ratios (OR) = 2.717, 95% CI=1.436-5.141) or TP53 GG (OR=2.168, 95% CI=1.149-4.089) genotype was associated with an increased risk of cervical cancer on comparison with the SET8 TT or TP53 CC genotypes, respectively. In additional, interaction between the SET8 and TP53 polymorphisms increased the risk of cervical cancer in a synergistic manner, with the OR being 9.913 (95% CI=2.028-48.459) for subjects carrying both SET8 CC and TP53 GG genotypes. Conclusion: These data suggest that there are significant associations between the miR-502-binding site SNP in the 3'-UTR of SET8 and the TP53 codon 72 polymorphism with cervical cancer in Chinese, and there is a gene-gene interaction.

• The Korean Journal of Pain
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• v.29 no.1
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• pp.34-39
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• 2016

Background: Although opioids are the most commonly used medications to control postoperative pain in children, the analgesic effects could have a large inter-individual variability according to genotypes. The aim of this study was to investigate the association between single nucleotide polymorphisms and the analgesic effect of morphine for postoperative pain in children. Methods: A prospective study was conducted in 88 healthy children undergoing tonsillectomy, who received morphine during the operation. The postoperative pain score, frequency of rescue analgesics, and side effects of morphine were assessed in the post-anesthesia care unit. The children were genotyped for OPRM1 A118G, ABCB1 C3435T, and COMT Val158Met. Results: Children with at least one G allele for OPRM1 (AG/GG) had higher postoperative pain scores compared with those with the AA genotype at the time of discharge from the post-anesthesia care unit (P = 0.025). Other recovery profiles were not significantly different between the two groups. There was no significant relationship between genotypes and postoperative pain scores in analysis of ABCB1 and COMT polymorphisms. Conclusions: Genetic polymorphism at OPRM1 A118G, but not at ABCB1 C3435T and COMT Val158Met, influences the analgesic effect of morphine for immediate acute postoperative pain in children.

• The Korean Journal of Physiology and Pharmacology
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• v.16 no.5
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• pp.339-342
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• 2012

Inter-individual pharmacokinetic variation of H2-receptor antagonist is related to genetic polymorphism of CYP2C19. We investigated the frequency of CYP2C19 genetic polymorphism and the treatment duration of cimetidine by CYP2C19 genotypes in functional dyspeptic patients without definite causes who were treated with cimetidine in Korea. One hundred subjects with functional dyspepsia participated in this study from March 1, 2010 to June 30, 2011. They were tested by upper gastrointestinal endoscopy and treated for their dyspepsia with cimetidine. The single nucleotide polymorphisms (SNPs) of CYP2C19 were genotyped using the Seeplex CYP2C19 ACE Genotyping system. There were no significant differences in the demographic, clinical, or laboratory findings among the CYP2C19 subgroups which are wild type homozygote (W/W), heterozygote (W/V), and variant homozygote (V/V). The frequencies of CYP2C19 subgroups were 33 (33%) in W/W, 49 (49%) in W/V, and 18 (18%) in V/V, respectively. The mean duration of cimetidine treatment (in weeks) was the shortest in the V/V among the CYP2C19 genotypes (W/W: $5.1{\pm}1.5$, W/V: $4.0{\pm}1.7$, V/V: $2.1{\pm}0.7$; p<0.001). This study can also act as a basis for further investigation to identify the underlying genetic, epigenetic, or environmental factors in CYP2C19 enzyme activity.

• Journal of Korean Neurosurgical Society
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• v.50 no.4
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• pp.293-298
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• 2011

Objective : The extracellular matrix (ECM) and cell adhesion molecules play crucial roles in angiogenesis, apoptosis, thrombosis, and inflammation, and also contribute to the pathogenesis of stroke. Integrin, alpha 6 (ITGA6) is a member of ECM adhesion receptors. We investigated whether two single nucleotide polymorphisms (SNPs) (rs11895564, Ala380Thr; rs2293649, Asp694Asp) of ITGA6 were associated with the development and clinical phenotypes of intracerebral hemorrhage (ICH) and ischemic stroke (IS). Methods : We enrolled 199 stroke (78 ICH and 121 IS) and 291 control subjects. Stroke patients were divided into subgroups according to the scores of the National Institutes of Health Stroke Survey (NIHSS, <6 and ${\geq}6$) and Modified Barthel Index (MBI, <60 and ${\geq}60$). SNPStats, SNPAnalyzer, and Helixtree programs were used to calculate odds ratios, 95% confidence intervals, and p values. Multiple logistic regression models were used to analyze genetic data. Results : A missense SNP rs11895564 was associated with the development of ICH (p=0.026 in codominant2, p=0.013 in recessive, p=0.02 in log-additive models; p=0.041 in allele distributions). The A allele frequency of rs11895564 was higher in the ICH group (13.5%) than in the control group (8.1%). In the clinical phenotypes, rs11895564 and rs2293649 showed significant associations in the MBI scores of IS (p=0.014 in codominant1 model; p=0.02 in allele distributions) and NIHSS scores of ICH (p=0.017 in codominant2, p=0.035 in recessive, p=0.035 in log-additive models), respectively. Conclusion : These results suggest that ITGA6 may be associated with the development and clinical phenotypes of stroke in Korean population.

• Molecular & Cellular Toxicology
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• v.5 no.4
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• pp.291-297
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• 2009

Kawasaki disease (KD) is believed to be infectious but etiology and the mechanism of development remain elusive. The aim of this study was to investigate the association between transmembrane channel-like 1 (TMC1) gene and KD. One hundred nine KD patients and 424 normal controls were enrolled. Of all KD patients, 34 developed coronary artery lesions (CALs). Eleven single nucleotide polymorphisms (SNPs) within TMC1 gene were selected and SNP genotyping was performed by the direct sequencing. Genotype frequencies were analyzed with the SNPAnalyzer, Helixtree, and SNPStats programs. In the present study, six SNPs (rs7851577, rs10781105, rs2589615, rs1663743, rs1373628, and rs1373626) were significantly associated with the risk of KD. In further haplotype analysis, one haplotype (CGGACCCT) showed a significant association between KD and control groups. These results suggest that TMC1 gene may be a susceptibility gene for KD in Korean population.

• Journal of Life Science
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• v.22 no.1
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• pp.25-30
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• 2012

Thymic stromal lymphopoietin(TSLP) is a novel IL-7-like hematopoietic cytokine. Human TSLP is produced by epithelial cells, stromal cells, and mast cells. The TSLP gene is highly expressed in synovial fluid specimens derived from rheumatoid arthritis (RA) patients. We previously identified four single nucleotide polymorphisms (SNPs) and one variation site in human TSLP gene. In this study, we analyzed the genotypic and allelic frequencies of the TSLP SNPs between RA patients and healthy controls. We also investigated the relationships between SNP genotypes and the RF levels and anti-synthetic cyclic citrullinated peptide (CCP) levels in RA patients. We then calculated the haplotype frequencies defined by these SNPs for both groups. The genotype and allele frequencies of the TSLP SNPs did not differ significantly between the RA patients and the healthy controls. We also found that TSLP SNPs in the RA patients had no significant association with the levels of RF or anti-CCP. Our results suggest that TSLP SNPs are not associated with susceptibility to RA.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.18
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• pp.7955-7958
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• 2014

Breast cancer is the most common cancer among women in the world. In Iran, the incidence of breast cancer is on the increase. We here studied the association of rs1219648 in FGFR2 and rs1042522 in TP53 and their interaction in development of early onset sporadic breast cancer in Iranian Azeri population to evaluate epistatic effects on the risk of mammary neoplasia. We genotyped the two polymorphisms in 100 women with early onset breast cancer and 100 healthy women by PCR-RFLP. Allele frequency differences were tested using $chi^2$-test with 95% confident intervals. Our results indicated a statistically significant association (p<0.05) between rs1219648, but not rs1042522, and risk of breast cancer. We also found that the combination of FGFR2 major genotype and TP53 hetero genotype had protective effects against breast cancer, while the hetero allele of FGFR2 in combination with the minor genotype of TP53 was associated with a high risk. This study revealed an important crosstalk between two polymorphisms in FGFR2 and TP53 in development of breast cancer. These candidates risk variants should be further evaluated in studies with a larger sample size.

• Advances in Traditional Medicine
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• v.7 no.4
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• pp.357-362
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• 2007

Cytochrome P450 2C19 (CYP2C19) is a clinically important enzyme involved in the metabolism of therapeutic drugs, including (S)-mephenytoin, omeprazole, proguanil, and diazepam. Individuals are characterized as either extensive metabolizers (EM) or poor metabolizers (PM) on the basis of CYP2C19 enzyme activity. The PM phenotype occurs in 2-5% of Caucasians, but in 18-23% of Asians. To clarify the association between CYP2C19 polymorphisms and gastric cancer in Koreans, we investigated CYP2C19 genotypes ($CYP2C19^*1,\;{^*2},\;and\;^*3$) in 109 patients with gastric cancer and 211 controls. Normal ($CYP2C19^*1$) and defective alleles were detected with polymerase chain reaction/restriction enzyme analysis. CYP2C19 has three hereditary genotypes: homozygous EM, with high enzymatic activity; heterozygous EM, with moderate enzymatic activity; and PM, with no enzyme activity. We found that CYP2C19 heterozygous EM is more closely associated with gastric cancer than is homozygous EM. Because the CYP2C19 genotype varies in Koreans, a genotyping test is desirable to prevent gastropathy recurrence in patients before their doses of omeprazole are reduced during maintenance therapy.

• Food Science of Animal Resources
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• v.30 no.4
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• pp.655-660
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• 2010

This study aimed to identify genetic polymorphisms associated with fatty acid composition in Hanwoo beef. In this study, three SNPs (-867G>C, -877Gdel and 878T>C) were detected in SCD gene by DNA sequencing and PCR-RFLP. Statistical analysis revealed that 878T>C SNP was significantly associated with total saturated (p=0.016), unsaturated (p=0.016), and monounsaturated fatty acid (p=0.026) composition. However, the other two SNPs (-867G>C and -877Gdel) that are detected in the regulatory region of the SCD gene have no association with the fatty acid composition of Hanwoo meat. The 878C (alanine type) allele was found to be associated with 2.2% higher monounsaturated fatty acid, 1.5% lower saturated fatty acid, and 1.4% higher unsaturated fatty acid content than those associated with the 878T (valine type) allele. These results indicate that the non-synonymous SNP (878T>C) in the SCD gene could be a causal mutation that contributes to the MUFA variation in Hanwoo beef.