• Journal of Physiology & Pathology in Korean Medicine
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• v.18 no.4
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• pp.1192-1198
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• 2004

Sasang Constitutional Medicine is a major branch of Korean Traditional Medicine. The differences of disease susceptibility to be shown in Sasang constitution may be due to genetic factors. Therefore, I examined interrelationship among cerebral infarction (CI), apolipoprotein E (apo E) gene polymorphism, and Sasang constitutional classification. Apo E is a key protein modulating the highly atherogenic apoB containing lipoproteins and is a candidate gene for the development of coronary artery disease (CAD). The ε2 and/or ε4 alleles were the first to be implicated in premature CAD, which resulted in this polymorphism being extensively studied. I investigated the association between apo E genotype and CI by case-control study in a Korean population. I also classified CI patients and control group into groups according to Sasang Constitutional Medicine. 218 CI patients and 379 controls without CI were examined. Apo E genotype was determined by 8% polyacrylamide gel separation after DNA amplification. A frequency of apo E ε3/ε3 in the apo E genotype distribution was higher in the CI patients compared with that in controls. Also, it was widely known that Taeumin was easily attacked with CI, but there was no association between apo E polymorphim and Taeumin. However, the Taeumin constitution did not enhance the relative risk for CI in the subjects with apo E ε2 and/or ε4 alleles. No differences in the apo E genotypes frequencies were observed in the Taeumin compared with that in the other constitutions. In addition, I investigated whether the DD(deletion/deletion) or ID(insertion/deletion) genotype of angiotensin converting enzyme (ACE) gene, a candidate gene for CI, was associated with CI, Taeumin constitution, and apo E polymorphism. As a result, the frequency of Taeumin constitution was significantly higher in CI patients with both apo E ε3/ε4 and ACE ID/DD genotypes than in the remaining Sasang constitutions. In summary, it was concluded that the apo E polymorphism is a major risk factor for CI in Koreans and the ACE ID/DD genotype enhanced the relative risk for CI in the subjects with apo E ε3/ε4 genotype and Taeumin constitution.

• Advances in Traditional Medicine
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• v.4 no.2
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• pp.104-111
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• 2004

Sasang Constitutional Medicine is a major branch of Korean Traditional Oriental Medicine. The differences of disease susceptibility to be shown in Sasang constitution may be due to genetic factors. Therefore, we examined interrelationship among cerebral infarction (CI), apolipoprotein E (apoE) gene polymorphism, and Sasang constitutional classification. ApoE is a key protein modulating the highly atherogenic apoB containing lipoproteins and is a candidate gene for the development of coronary artery disease (CAD). The ${\varepsilon}2\;and/or\;{\varepsilon}4$ alleles were the first to be implicated in premature CAD, which resulted in this polymorphism being extensively studied. We investigated the association between apoE genotype and CI by case-control study in a Korean population. We also classified CI patients and control group into groups according to Sasang Constitutional Medicine. 196 CI patients and 379 controls without CI were examined. ApoE genotype was determined by 8% polyacrylamide gel separation after DNA amplification. A significant difference in the apoE genotype distribution was observed in the CI patients compared with that in controls ($X^{2}$=14.920, df=4, P=0.005). Also, the frequency of Taeumin constitution in patients with CI was significantly higher than that in controls (58.0% vs. 36.9%; P<0.001). However, the Taeumin constitution did not enhance the relative risk for CI in the subjects with apoE ${\varepsilon}2\;and/or\;{\varepsilon}4$ alleles. No differences in the apoE genotypes frequencies were observed in the Taeumin compared with that in the other constitutions. In addition, we investigated whether the DD genotype of angiotensin converting enzyme (ACE) gene, a candidate gene for CI, was associated with CI, Taeumin constitution, and apoE polymorphism. As a result, the frequency of Taeumin constitution was significantly higher in CI patients with both apoE ${\varepsilon}3/{\varepsilon}4$ and ACE ID/DD genotypes than in the remaining Sasang constitutions (14.5% vs. 8.3% and 0%) ($X^{2}$=13.521, df=6, P=0.035). In summary, we concluded that the apoE polymorphism is a major risk factor for CI in Koreans and the ACE ID/DD genotype enhanced the relative risk for CI in the subjects with apoE ${\varepsilon}3/{\varepsilon}4$ genotype and Taeumin constitution.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.16
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• pp.6871-6879
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• 2014

Background: The purpose of this study was to evaluate the potential association of five (p.P47S, p.R72P, PIN3 Ins16bp, p.R213R and r.13494g>a) polymorphisms of TP53 with the risk of developing breast cancer in North Indian Punjabi population. Methods: We screened DNA samples of 200 sporadic breast cancer patients (197 females and 3 males) and 200 unrelated healthy, gender and age matched individuals for the polymorphisms. Results: For the p.P47S polymorphism, we observed the PP genotype in 99.5% of the patients and PS genotype in only 1 patient. All the controls had the wild type PP genotype. The frequency of RR, RP and PP genotype of p.R72P was 23.5% vs 33.5%, 51.5% vs 45.5% and 25% vs 21% in patients and controls respectively. Heterozygous (RP) genotype was increased in breast cancer patients as compared to controls (51.5 vs 45.5%) and showed 1.61 fold significantly increased risk for breast cancer (OR=1.61, 95% CI, 1.01-2.58, p=0.04). In breast cancer patients the frequencies of A1A1, A1A2 and A2A2 genotypes of PIN3 Ins16bp polymorphism were 67%, 26% and 7% respectively whereas in controls the genotype frequencies were 68.5%, 27.5% and 4% respectively, with no significant difference. For p.R213R (c.639A>G), all individuals had homozygous wild type genotype. The frequencies of GG, GA and AA genotypes of TP53 r.13494g>a polymorphism were 62 vs 67.5%, 33 vs 28% and 5 vs 4.5% in patients and controls respectively, again without significant difference. We observed that RP-A1A1 genotype combination of p.R72P and PIN3 Ins16bp and RP-GG combination of p.R72P and r.13494g>a polymorphism showed significant risk of breast cancer (OR=1.65, 95%CI: 0.98-2.78, p=0.05; OR=1.72, 95%CI: 1.01-2.92, p=0.04). Conclusion: The results of present study indicated that among the five TP53 polymorphisms investigated, the p.R72P polymorphism, and the RP-A1A1 and RP-GG genotype combination contribute to breast cancer susceptibility in North Indians.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.4
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• pp.2093-2097
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• 2016

Background: HCV is a major global health problem. IL-27 is a member of the IL-6/IL-12 cytokine family with a broad range of anti-inflammatory properties. Recent studies highlighted the effect of a SNP in the IL-27 promoter region on modulating the progression of infectious diseases and individual responses to therapy. Aim of the work: The present study investigated the potential role of (-964 A/G) SNP in the promoter region of IL-27p28 gene (alleles rs153109) on the outcome of HCV infection among genotype 4a infected patients. Materials and Methods: HCV genotyping confirmed that all of the HCV-infected patients had genotype 4a infection. Genomic DNA was extracted from 111 patients with chronic HCV infection, 42 spontaneous resolvers (SR) and 16 healthy controls. IL- 27p28.rs153109 genotyping was assessed using PCR-RFLP then confirmed by DNA sequencing. Results: The frequency of IL-27-p28.rs153109AA, AG, and GG genotypes among chronically infected subjects were 74.8 %, 25.2%, and 0% while among the SR, they were 57.1%, 35.7%, and 7.14%, respectively. Our data show the unique presence of G/G genotype in the SR group (3 patients; 7.14%). Moreover, the "G" allele frequencies among chronic and resolved subjects were 12.6% and 25.0%, respectively (p=0.0136). Importantly, subjects with the GG genotype were more likely to clear their HCV infection than those with the AA genotype (p=0.0118). Conclusions: HCV genotype 4a subjects with the IL-27-p28.rs153109 A/G and G/G genotype were more likely to clear their HCV infection. Therefore, we propose IL- 27p28.rs153109SNPas a genetic biomarker for predicting HCV infection outcome.

• Toxicological Research
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• v.19 no.3
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• pp.205-210
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• 2003

The aim of this study was to estimate the influence of 37 bp insertion/deletion (I/O) poly-morphism of the low density lipoprotein receptor-related protein-associated protein 1 (LRPAP1) gene on anthropometrical or biochemical parameters in korean general population. To determine the frequency of the genotype, we analyzed 244 samples of Korean origin. The frequency of the I allele was 0.55 in men and 0.56 in women, which were significantly higher than the frequency (0.26) that was reported in Czech population of Caucasian origin. In addition, the I allele of this polymorphism was significantly associated with higher value of body mass index (BMI) in our subjects by ANOVA test (P<0.05), and this association was maintained after controlling for age and gender by ANCOVA test (P<0.05). Thus, our results suggest that the I/O polymorphism of the LRPAP1 gene may be useful as a genetic marker for obesity in Korean general population.

• Animal Bioscience
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• v.36 no.9
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• pp.1350-1356
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• 2023

Objective: This study was conducted to investigate polymorphisms of the melanocortin-4 receptor (MC4R) and insulin like growth factor 2 (IGF2) genes and to evaluate the growth traits affected by such polymorphisms in Thai native (Kradon) pigs. Methods: Blood samples and productive data from 91 Kradon pigs were collected. DNA was extracted and quantified, the IGF2 and MC4R genes were amplified, and the polymerase chain reaction (PCR) produces were digested using the PCR-restriction fragment length polymorphism (PCR-RFLP) technique. Genotyping was performed, and the association between genotypes and growth traits on the birth and weaning weights were evaluated. Results: The IGF2 intron7 g.162G>C variations in Kradon pigs were found in three genotypes: i) GG, ii) GC, and iii) CC. The GG genotype frequency was the highest followed by the GC and CC genotypes. The frequencies of the G and C alleles were 0.703 and 0.297, respectively. The MC4R genotype was found in only one genotype (GG). The IGF2 gene pattern was not associated with birth weight traits, whereas the IGF2 gene pattern was related to the weaning weight trait in Kradon pigs. Pigs with the CC and GC genotypes had higher weaning weights than ones with the GG genotype (p<0.001). Conclusion: Thai native Kradon pigs with the CC and GC genotypes of the IGF2 gene have higher weaning weights than pigs with the GG genotype.

• Nutritional Sciences
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• v.6 no.4
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• pp.239-245
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• 2003

The $\beta$3-adrenergic receptor ($\beta$3AR) plays a major role in thermogenesis and lipolysis in brown and visceral adipose tissue, and has been implicated in the pathogenesis of obesity and metabolic disorders. The purpose of this study was to estimate the effects of $\beta$3AR gene polymorphism on the risk of hyperglycemia in 980 Korean women who attended a weight loss program in a local clinic. Each subject s height, weight, BMI, WHR, obesity index and body composition were measured. The genotype of the $\beta$3AR gene in codon 64 was analyzed by the PCR RFLP method. Serum concentrations of fasting glucose, of total and HDL cholesterol, and of TG were determined. Genotype distributions were as follows : 67% WW type, 31% WR type, and 2% RR type. Among the many measured parameters, fasting glucose levels were significantly higher in the WR/RR type compared with the WW type (p=0.0ll). When the subjects were divided into two groups by a fasting blood glucose level higher or lower than 6.105mmol/L (110mg/dl), the frequency of hyperglycemia showed a significant difference in relation to $\beta$3AR genotype as measured by $\X^2$-analysis (p=0.014); the frequency of hyperglycemia was significantly higher (at 24.8%) in WR/RR type subjects, compared to 18.2% in WW type subjects. When all of the measured parameters were included in stepwise logistic regression analyses to find the risk factors for hyperglycemia, the odds ratios for hyperglycemia were 1.573 (p=0.0ll) for the WR/RR type of the $\beta$3AR gene, 1.053 (p=0.001) for TG, 1.044 (p=0.037) for BMI, and 1.026 for age (p=0.031). These data suggest that the WR/RR genotype of the $\beta$3AR has a very strong association with increased blood glucose level and might be a significant risk factor for hyperglycemia among Korean women.

• The Journal of Internal Korean Medicine
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• v.37 no.1
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• pp.47-64
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• 2016

Objectives: In the present study, a genetic analysis was conducted to investigate the association of the expression of SNPs of EDN1 gene polymorphism with the clinical phenotype in bronchial asthma patients with either excess or deficiency syndrome.Methods: Ninety-four healthy control subjects and 52 asthma patients were included in this study. The asthma patients were divided into two groups: those with deficiency syndrome and those with excess syndrome. We searched the exonic and promoter areas of the EDN1 gene in the NCBI website SNPs with <0.01 minor allele frequency (MAF) and <0.01 heterozygosity. Pro programs were performed to obtain the odds ratio, 95% confidence interval, and p-value. Multiple logistic regression models were conducted to analyze the genetic data.Results: In our genotype and allele analyses, there were significant differences in the codominant 2 model of the rs3087459 SNP genotype and also in the CGG haplotype between the control group and the asthma group. Genotype and allele analyses were conducted between the deficiency and excess syndrome group. There were significant differences in the dominant and log-additive model and also in the frequency of C-alleles of rs3087459 SNP genotype. There were significant differences in codominant 1, dominant and log-additive model and T-allele of rs5370 SNP genotype. The AGG haplotype also revealed significant differences.Conclusions: EDN1 SNPs (rs3087459, rs5370) showed a significant association with symptomatic excess syndrome in Korean asthmatic patients.

• Asian-Australasian Journal of Animal Sciences
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• v.17 no.10
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• pp.1334-1337
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• 2004

The present study was conducted to detect polymorphism at growth hormone gene in Karan Fries bulls. A 428 bp fragment of growth hormone gene spanning over $4^{th}$exon, $4^{th}$intron and $5^{th}$ exon was amplified and digested with AluI restriction enzyme to identify polymorphism at this locus. Karan Fries bulls were found to be polymorphic at this locus. Two genotypes LL and LV were identified in Karan Fries with higher allelic frequency for L allele. In Karan Fries males, the average birth weight, 3 months body weight and daily body weight gains of LL homozygotes were significantly higher than that of LV heterozygotes. Genetic distances of KF bulls with respect to genotype along with 3 months body weight and average daily body weight gain forms a single cluster of bulls with LL genotype, while individuals with LV genotype forms three distinct clusters indicating more influence of L allele on growth traits.

• Journal of Plant Biotechnology
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• v.5 no.4
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• pp.245-250
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• 2003

An efficient procedure was developed for adventitious shoot bud induction and plantlet regeneration from various explants of the ten genotypes of Pepper (Capsicum annuum L.) using Thidiazuron (TDZ). Among various treatments at 1.0-3.0 mg/L TDZ Induced maximum number of adventitious shoots depending upon the explant type and genotype compared to other treatments. Among the explants tested, leaf induced maximum number of adventitious shoots than the cotyledons. TDZ-mediated organo-genesis was possible in 10 pepper cultivars, the extent of the response being genotype-dependent. Of the ten genotypes tested, C. annuum cvs CA960, $G_4$ and X-235 were produced maximum number of adventitious shoots and Sell was the least, and all other genotypes gave moderate response. Elongation of multiple shoots was observed on medium supplemented with SA (0.05 mg/L) in combination of IAA (0.05 mg/L). Differences in ability for in vitro shoot regeneration and elongation depend upon the variety and explant type. The elongated shoots were success. Fully rooted on MS medium containing at 1.0 mG/L IAA. Plantlets regenerated from different explants of ten genotypes were found to be diploid (2n=24) and were devoid of any chromosomal aberrations. Regenerated plants were successfully established in soil where 85-90% of them developed into morphologically normal and fertile plants.