• Asian-Australasian Journal of Animal Sciences
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• v.19 no.3
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• pp.305-308
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• 2006

A genetic study was conducted to elucidate the effect of alpha-Lactalbumin (${\alpha}$-LA) gene polymorphism on milk production traits involving total milk yield and daily milk yield during first lactation in two breeds of water buffaloes namely, Murrah and Bhadawari. Single strand conformation polymorphism (SSCP) was carried out to explore genetic polymorphism present at this locus. For this study, exon 1 region of ${\alpha}$-LA was analyzed. Finally, polymorphism data was associated with milk production traits by employing least square analysis. In Murrah buffalo, five genotypes such as AB, BB, BC, CC and CD and four alleles A, B, C and D were detected whereas in Bhadawari buffalo two genotypes namely, AB and BC and three alleles namely, A, B and C were found. Genotypes showed significant effects ($p{\leq}0.05$) on total milk yield and daily milk yield in Bhadawari buffalo but had non-significant effects on these traits in Murrah buffalo.

• Korean Journal of Biological Psychiatry
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• v.13 no.4
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• pp.267-272
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• 2006

Objectives : Schizophrenia is a clinically heterogenous disease with a strong genetic component. Many studies have suggested that brain-derived neurotrophic factor(BDNF) is involved in the pathophysiology of schizophrenia. This study was performed to determine whether there is an association between BDNF Val66Met polymorphism and schizophrenia. Methods : To identify any genetic predisposition to schizophrenia, we investigated the BDNF Val66Met polymorphism in 106 patients with schizophrenia and 147 normal controls with PCR-RFLP method. Statistical analyses were used to test the association between and BDNF Val66Met genotype and Schizophrenia. Results : No association was found between BDNF Val66Met polymorphism and schizophrenia. No significant differences were found comparing the BDNF genotype distributions according to the age of onset, the number of admission and familial loading in schizophrenia. Conclusion : This result indicates that BDNF Val66Met polymorphism is not associated with schizophrenia. However, further studies with a large number of subjects are needed to confirm whether the BDNF gene is related to schizophrenia.

• Biomolecules & Therapeutics
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• v.14 no.4
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• pp.189-193
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• 2006

This study was designed to assess the distribution of cytochrome P450 2E1 (CYP2E1) polymorphism among Korean patients on warfarin therapy. CYP2E1 polymorphism was analyzed at 5' flanking region of CYP2E1 gene using restriction fragment length polymorphism method. Patient characteristics including the measured internal normalized ratio (INR) were also evaluated. Based on the warfarin dose and the bleeding cases, the patients were grouped as the regular dose control, the regular dose bleeding, the low dose control, and the low dose bleeding. Total 96 patients were evaluated for both Pst I and Rsa I loci of the CYP2E1 gene and the results showed that both loci were tightly linked. Thirty-three patients(34.4%) were heterozygotes and 4 patients(4.2%) were homozygote. There was no significant difference in patient characteristics in the dose and bleeding case groups. CYP2E1 polymorphism showed a little difference among the groups but was not statistically significant, however, lower INR value was observed in homozygote genotype groups. It was also revealed that genotype allele frequencies of CYP2E1 in Korean was close to other Asian groups but was significantly different from other Caucasian and African-American populations.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.7
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• pp.2745-2749
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• 2015

Objective: To study the PLCE1 gene rs2274223 polymorphism with regard to esophageal cancer and its interaction with diet, lifestyle, psychological and environmental factors in Southwest Shandong province. Materials and Methods: A case series study (case-case) was conducted. Questionnaire data were collected and 3 ml-5ml venous blood was drawn for DNA extraction among the qualified research subjects. PLCE1 gene polymorphism was detected after PCR amplification of DNA. SPSS 13.0 software was used for statistical analysis of the data. Results: The three genotypes A/A, A/G and G/G PLCE1 gene rs2274223 was 31, 16 and 4 cases, accounting for 60.8%, 31.4%, 0.08% respectively. The difference of three genotypes (AA/GA/GG) proportion between negative and positive family history of patients was statistically significant, ${\chi}^2=6.213$, p=0.045. There was no statistically significant relationship between PLCE1 gene rs2274223 polymorphism and smoking, drinking, ${\chi}^2=0.119$, p=0.998, and ${\chi}^2=1.727$, p=0.786. There was no linkage of the three rs2274223 PLCE1 gene genotypes (AA/GA/GG) proportion with eating fried, pickled, hot, mildew, overnight, smoked, excitant food, eat speed, salt taste or not (p>0.05). or with living environment pollution and nine risk factors of occupational exposure (p>0.05). There was no statistically significant difference in TS scores between different genotype of rs2274223 PLCE1 gene. Conclusions: The PLCE1 rs2274223 polymorphism has a relationship with family history of esophageal cancer, but does not have any significant association with age, gender, smoking, alcohol drinking, food hygiene, eating habits, living around the environment and occupation in cases.

• Korean Journal of Biological Psychiatry
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• v.14 no.4
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• pp.262-267
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• 2007

The serotonin 6(5-HT6) receptor gene is a candidate gene for influencing the clinical response to treatment with antidepressants. The purpose of this study was to determine the relationship between the C267T polymorphism in the 5-HT6 receptor gene and the treatment response to citalopram in a Korean population with major depressive disorder(MDD). Methods : Citalopram was administered for 8 weeks to the 90 patients who completed study. 21-item Hamilton depression rating scale(HAMD-21) was used as a outcome measure. Results : We found that the genotype, allele, and allele-carrier distributions did not differ significantly between MDD patients and normal controls. A main effect of an interaction of genotype with time on the decrease in the HAMD-21 score during the 8 weeks study period was not found. ANOVA revealed no significant effects of the C825T polymorphism on the decrease in the HAMD-21 score at each time period. Conclusions : These results suggest that the C267T polymorphism in the 5-HT6 receptor gene is not associated with the treatment response to citalopram.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.23
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• pp.10387-10391
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• 2015

Background: This study aimed to identify any association between the p73 gene G4C14-to-A4T14 polymorphism and risk of non-small cell lung cancer (NSCLC) in the south of China. Materials and Methods: We genotyped the p73 gene polymorphism of peripheral blood DNA from 168 patients with NSCLC and 195 normal controls using HRM (high resolution melting) and PCR-CTPP (polymerase chain reaction with confronting two-pair primers). Results: The results of genotyping by HRM and PCR-CTPP were consistent with direct sequencing, the p73 genotype distribution in 168 lung cancer patients being as follows: GC/GC 101 cases (60.1%), GC/AT 59 cases (35.1%), AT/AT 8 cases (4.8%). The carriers of AT/AT genotype had a significantly reduced risk of NSCLC (OR=0.370; 95%CI: 0.170-0.806; p=0.010) as compared with non-carriers. However, we found no relations between p73 genotypes and histological type (p=0.798, $x^2=0.452$), tumor stage (p=0.806, $x^2=0.806$), or lymph node metastasis (p=0.578, $x^2=1.098$). Conclusions: Our findings suggest that the p73 G4C14-to-A4T14 polymorphism may be a modifier of NSCLC susceptibility in the Chinese population.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.3
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• pp.1255-1262
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• 2014

Background: The aim of the study was to investigate any associations between benign prostate hyperplasia (BPH) and single nucleotide polymorphisms (SNPs) in the VDR gene (FokI, BsmI, ApaI and Taq${\alpha}$I loci) and the CYP17 gene (MspA1I locus), as well as TA repeat polymorphism in SRD5A2 gene among Lebanese men. Materials and Methods: DNA extracted from blood of 68 subjects with confirmed BPH and 79 age-matched controls was subjected to PCR/PCR-restriction fragment length polymorphism analysis. The odds ra=tio (OR) of having a genotype and the relative risk (RR) of developing BPH for having the genotype were calculated and the alleles were designated risk-bearing or protective. Results: Our data indicated that the A and B alleles of the VDR ApaI and BsmI SNPs were highly associated with increased risk of BPH (p=0.0168 and 0.0002, respectively). Moreover, 63% of the controls compared to 43% of the subjects with BPH were homozygous for none of the risk-bearing alleles (p=0.0123) whereas 60% of the controls and 28% of the subjects with BPH were homozygous for two or more protective alleles (p<0.0001). Conclusions: For the first time, our study demonstrated that ApaI and BsmI of the VDR gene are associated with risk of BPH among Lebanese men. Our study also indicated that overall polymorphism profile of all the genes involved in prostate physiology could be a better predictor of BPH risk.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.2
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• pp.803-809
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• 2015

Background: Colorectal cancer (CRC) is a leading cause of cancer-related death. Oxidative DNA damage may contribute to cancer risk and the antioxidant paraoxonase is one endogenous free radical scavenger in the human body which could therefore exert an influeence. Purpose: Aim of this study was to determine the role of serum arylesterase (ARE) and paraoxonase 1(PON1) activities in CRC patients and to find any association between (PON1) Q192R and L55M gene polymorphisms in CRC patients. Also the serum ARE and PON1 activities in CRC patients will be investigated before and after surgery Materials and Methods: This study involved a total of 50 patients with newly diagnosed CRC and 80 healthy controls. PON1 and ARE activities were determined using an enzymatic spectrophotometric method. PON1 Q192R and L55M gene polymorphisms were determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) based restriction fragment analysis. The restriction enzyme AlwI was used to examine the Q192R polymorphism and Hsp92II for the L55M polymorphism. Results: Significant differences in the PON1 Q192R polymorphism were found between patients and controls. The Q allele was more frequent in the patient group than in controls, while the R allele was more frequent in the controls. Significant differences were found in the L55M polymorphism. Additionally, there were significant differences in L and M allele frequencies (p=0.001). The serum activities of PON1 and ARE were low in QQ and MM genotype. Conclusions: serum PON1 and ARE activities were significantly lower in CRC patients compared to healthy subjects. The R allele may protect against colorectal cancer.

• Journal of Periodontal and Implant Science
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• v.39 no.sup2
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• pp.269-278
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• 2009

Purpose: The aim of this study was to investigate matrix metalloproteinase 1 (MMP-1) gene polymorphism (1G/2G at -1607 and A/G at -519) in Korean subject and to assess the association between polymorphism and periodontal status. Methods: Forty nine generalized aggressive periodontitis (GAP) patients and 57 periodontally healthy children were recruited and genomic DNA was extracted from buccal swab. The polymorphisms of MMP-1 promoter genes were determined by polymerase chain reaction and restriction fragment length product (PCR-RFLP) method. The distribution of genotype and allele frequency was compared between 2 groups by ${\chi}^2$ test. Results: There was a significant difference in the distribution of genotypes and frequency of alleles between the GAP and reference groups at the position - 519 of MMP-1 gene promoter (P<0.05). Allele G carrier rate was significantly lower in GAP group than that of the reference group (P< 0.001). At the position -1607 of MMP-1 gene promoter, genotype distribution and allele frequency showed no statistically significant difference between the groups. However, in the female group, a significant difference was observed between the groups for the genotype distribution, allele frequency and allele 1G carrier rate (P< 0.05). Conclusions: The DNA polymorphism at the MMP-1 gene promoter might be associated with GAP in Korean.

• Korean Journal of Biological Psychiatry
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• v.24 no.1
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• pp.32-38
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• 2017

Objectives This study was aimed to investigate the association between amisulpride-induced hyperprolactinemia and the Taq1A polymorphism in the D2 dopamine receptor gene (DRD2) in schizophrenic patients. Methods The plasma concentrations of prolactin were measured before and after treatment with amisulpride in one hundred and twenty-five schizophrenic patients. The effect of the Taq1A variants of the DRD2 on the risk of amisulpride-induced hyperprolactinemia was the main the outcome measure. The genotyping for Taq1A (rs1800497) polymorphism was performed using TaqMan single nucleotide polymorphism (SNP) genotyping assay. Results There was a significant difference between the prolactin level at baseline and the 6th week after treatment with amisulpride in all the subjects. However, there were no significant correlations between ΔProlactin (the difference between prolactin level at baseline and the 6th week after treatment) and the Taq1A genotypes. Conclusions This is the first study to investigate the-correlations between the Taq1A polymorphism and the amisulpride-induced hyperprolactinemia in Korean schizophrenic patients. The current results suggested the further large-scale researches on various SNPs in the DRD2 gene will establish clear goals and provide answers to the unanswered questions described in this study.