• Asian-Australasian Journal of Animal Sciences
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• 제25권11호
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• pp.1511-1514
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• 2012

Epistasis that may explain a large portion of the phenotypic variation for complex economic traits of animals has been ignored in many genetic association studies. A Baysian method was introduced to draw inferences about multilocus genotypic effects based on their marginal posterior distributions by a Gibbs sampler. A simulation study was conducted to provide statistical powers under various unbalanced designs by using this method. Data were simulated by combined designs of number of loci, within genotype variance, and sample size in unbalanced designs with or without null combined genotype cells. Mean empirical statistical power was estimated for testing posterior mean estimate of combined genotype effect. A practical example for obtaining empirical statistical power estimates with a given sample size was provided under unbalanced designs. The empirical statistical powers would be useful for determining an optimal design when interactive associations of multiple loci with complex phenotypes were examined.

• Genomics & Informatics
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• 제20권4호
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• pp.39.1-39.9
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• 2022

Various methods of frequent pattern mining have been applied to genetic problems, specifically, to the combined association of two genotypes (a genotype pattern, or diplotype) at different DNA variants with disease. These methods have the ability to come up with a selection of genotype patterns that are more common in affected than unaffected individuals, and the assessment of statistical significance for these selected patterns poses some unique problems, which are briefly outlined here.

• International Journal of Industrial Entomology and Biomaterials
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• 제18권2호
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• pp.131-134
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• 2009

The purpose of this study was to establish whether there are differences in the productivity of the same silkworm(Bombyx mori L.) parthenoclones, obtained by two different methods-thermal and combined, as well as to study their genotype structure by several enzyme loci. It was established that all individuals of parthenoclones Joana, Joana(${\downarrow}{\uparrow}$), Pohi and Pohi(${\downarrow}{\uparrow}$), are homozygous by the studied esterase and phosphoglucomutase loci, which substantiated the clones' genetic stability. By comparative analysis of some biological and technological properties, it was found that parthenoclone Pohi(${\downarrow}{\uparrow}$) obtained by low-high temperature activation is characterized by higher values of these properties as compared to parthenoclone Pohi obtained by thermal parthenogenesis. Comparing the two methods of inducing ameiotic parthenogenetic development, we would recommend that parthenoclone Joana is sustained by thermal parthenogenesis, and parthenoclone Pohi-by the combined method (low-high temperature).

• Asian Pacific Journal of Cancer Prevention
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• 제13권7호
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• pp.3109-3112
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• 2012

Background: Many studies have focused on possible associations between the glutathione S-transferase M 1 (GSTM1) null genotype and risk of renal cell carcinoma (RCC), but the impact remains unclear owing to obvious inconsistencies among the findings. The present study aimed to quantify the strength of any association in a meta-analysis. Methods: We searched the PubMed, Embase and CBM databases for studies concerning the association between the GSTM1 null genotype and risk of RCC. We estimated the summary odds ratio (OR) with its 95% confidence intervals (95% CI) to assess the association. Results: The meta-analysis showed the GSTM1 null genotype was not associated with risk of RCC overall (OR = 1.04, 95% CI 0.92-1.18, P = 0.501). For Caucasians, the GSTM1 null genotype was also not associated with risk of RCC (OR=1.02, 95% CI 0.90-1.16, P = 0.761). The cumulative meta-analyses showed a trend of no obvious association between GSTM1 null genotype and risk of RCC as information accumulated. Sensitivity analyses by omitting those studies also did not materially alter the overall combined ORs. No evidence of publication bias was observed. Conclusion: Meta-analyses of available data show that the GSTM1 null genotype is not significantly associated with risk of renal cell carcinoma.

• Asian Pacific Journal of Cancer Prevention
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• 제14권11호
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• pp.6507-6512
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• 2013

The purpose of this study was to evaluate the associations of CYP1A1 genetic polymorphisms with the risk of developing esophageal cancer (EC). A case-control study was carried out in a Chinese population in which 157 hospital based EC cases and 157 population based healthy controls with 1:1 match by age and sex were included. PCR based restriction fragment length polymorphisms (PCR-RFLP) were used to detect genotypes in case and control groups. For the CYP1A1 Ile/Val polymorphism, comparing with wild genotype Ile/Ile, both the heterozygote genotype Ile/Val and the combined variant genotype Ile/Val+Val/Val increased the risk of esophageal cancer (OR: 2.05, 95%CI: 1.19-3.54, OR: 1.86, 95%CI: 1.11-3.12). No significant association was found between the CYP1A1 MspI polymorphism and EC. According to analysis of combined genotypes, the TC/AG combined genotype which contained both variant alleles of these two polymorphisms increased the risk of developing EC (OR: 2.12, 95%CI: 1.16-3.85). Our results suggested that genetic polymorphisms of CYP1A1 may increase the susceptibility to EC.

• 한국환경성돌연변이발암원학회지
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• 제20권1호
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• pp.26-33
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• 2000

Genetic polymorphisms of metabolizing enzymes to chemical carcinogens have been recognized as a major important host factors in human cancers. To datermine the frequencies of genotypes of CYP1A1 and GSTM1 metabolizing enzymes in healthy controls and head and neck cancer patients in Korean and to identify the relative high risk genotypes of these metabolizing enzymes to head and neck cancer, we have analyzed 133 head and neck cancer patients and corresponding healthy controls matched in age and sex using polymerase chain reaction-restriction fragment length polymorphism (PCR-RELP). In analysis of CYP1A1, the Val/Val genotype of exon 7 polymorphism and m2/m2 genotype of Msp 1 polymorphism were associated with higher relative risks to head and neck cancers (Odds ratio : 2.34, 95% CI : 0.79-6.96 and 1.27, 95% CI : 0.59-2.73, respectively). In combined genotyping of CYP1A1 and GSTMI enzymes polymorphisms, the patients with Val/Val ad GSTM1(-), and m1/m21 and GSTM1(-) combined genotypes had higher relative risks than the patients with each base genotype of combined genotypes (Odds ratio : 4.57, 95% CI : 0.5-41.25 and 1.65, 95% CI L 0.73-3.77, respectively). These results sugget the combined genotyping of metabolizing enzymes could be useful for predicting individual genetic susceptibility and screening the high risk subpopulation to head and neck cancer in Korea.

• 대한두경부종양학회지
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• 제18권2호
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• pp.150-156
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• 2002

Objectives: Most of human cancers may result from exposure to environmental carcinogens, and individual effectiveness in the detoxification of these chemicals will influence susceptibility to malignant disease. Glutathione S-Transferases(GSTs) enzymes are involved in the detoxification of active metabolites of many carcinogens from tobacco smoke and may be important in modulating susceptibility to smoke-related cancer. The purpose of this study is to determine the polymorphism of GSTM1, GSTT1, and GSTP1 in control group and head and neck squamous cell carcinoma group of Korean, and to investigate the effect of GSTs polymorphism on the risk of head and neck cancer. Materials and Methods: A hospital-based case-control study was performed with a group of 133 control individual and 136 head and neck squamous cell carcinoma patients. The polymorphisms of GSTs were analysed using polymerase chain reaction in GSTM1 and GSTTl, and polymerase chain reaction-restriction fragment length polymorphism in GSTP1. Results: The relative risk (odds ratio) of GSTM(-) genotype was 1.14(95% CI, 0.70-1.85) compared to GSTM1(+). The odds ratio of GSTTl(-) genotype was 0.91(95% CI, 0.55-1.50). In old age($65$) group, the odds ratio of GSTT1(-) genotype was 5.2(95% CI, 1.53-17.89). The GSTP1 Val/Val genotype conferred a 1.7-fold risk(95% CI, 0.40-7.34) of head and neck cancer compared with GSTP1 Ile/Ile genotype. Among the combined genotypes of GSTs, GSTM1(-)/GSTT1(+)/GSTP1 Val/Val and GSTM1(-)/GSTTl(-)/GSTP1 Ile/Val genotypes conferred a 2.6-fold and 1.3-fold risk(95% CI, 0.24-14.15 and 0.43-3.14) compared with the GSTM1(+)/GSTTl(+)/GSTP1 Ile/Ile genotype, respectively. Conclusion: Polymorphism of GSTs might modulate susceptibility to head and neck cancer in Korean population. The genotype of GSTP1 Val/Val and combined genotypes of GSTM1(-)/GSTT1(+)/GSTP1 Val/Val, and GSTM1(-)/GSTT1(-)/GSTP1 Ile/Val might be important risk factors to determine the individual susceptibility to head and neck squamous cell carcinoma.

• 대한한의학회지
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• 제24권4호
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• pp.102-112
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• 2003

The homozygous deletion allele of the angiotensin converting enzyme gene (ACF/DD), homozygous threonine allele of the angiotensinogen gene (AGN/TT), and the 4 allele of the apolipoprotein E gene (apoE/4) are reported to be associated with ischemic heart disease. Ischemic cerebrovascular disease (ICVD) is another atherosclerotic disease, and the effects of these polymorphisms on ICVD have been confusing. In this study, I investigated whether ACF/DD, AGN/TT, and apoE/4 genotypes are associated with ICVD and whether genetic risk is enhanced by the effect of one upon another. I ascertained these genotypes in patients with ICVD (n=121) diagnosed by brain computed tomography. Control subjects for the ICVD were randomly selected from subjects matched for age, gender, and history of hypertension with patients. Frequency of ACF/DD genotype was somewhat higher in the patients with ICVD than in the controls (18％ vs. 15％). Incidence of ICVD was higher in subjects with the apoE/4/4 genotype than in the other genotypes (50％ vs. 27-29％). Incidence of ICVD was much higher in subjects with the AGN/TT genotype than in AGN/MM genotype (36％ vs. 17％). Furthermore, the AGN/TT genotype greatly increased the relative risk for ICVD in the subjects with ACF/DD genotype (80.0％ vs. 20.0％, P=0.089). Finally, incidence of ICVD was much higher in the subjects with both apoE/2/4 and AGN/TT genotype than in the other genotypes (83.3％ vs. 16.7％, P=O.095). These results suggest that AGN/TT enhances the risk for ICVD associated with ACF/DD and apoE/2/4.

• 생명과학회지
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• 제22권3호
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• pp.398-406
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• 2012

이 연구는 한국인에서 적용할 수 있는 근력관련 유전적 소인을 ACE 유전자와 ACTN3 유전자를 단일유전자 수준과 다중유전자 수준에서 관계성을 규명하는데 목적이 있다. 연구의 목적을 위해 근력운동종목의 엘리트선수 158명, 국가대표선수 106명, 대조군 676명을 동원하여 ACE ID 다형성과 ACTN3 R577X 다형성 분포를 분석했다. 연구결과, ACE 다형성에서 II 유전형 및 I 대립형질은 유의하게 높은 분포를 가졌고, 반면 DD 유전형 및 I 대립형 질은 유의하게 낮은 분포를 가졌다(Top-Class vs. Control: 41.4% vs. 32.1 for II genotype, 67.1% vs. 57.7% for I allele, p<0.05). ACTN3 다형성에서 RR 유전형 및 R 대립형질은 유의하게 높았고 XX 유전형 및 R 대립형질은 유의하게 낮았다(Top-Class vs. Control: 42.3% vs. 29.0 for RR genotype, 65.3% vs. 54.8% for R allele, p<0.05). 다중유전자 수준에서 근력은 ACE 다형성과 ACTN3 다형성이 조합된 우성조합유전형(II/ID+RR/RX)이 최우수 경기력에서 유의하게 높은 분포를 가졌다(Top-Class vs. Control: 82.9% vs. 66.7% for II/ID+RR/RX, p<0.05). 또한 최우수 경기력을 가진 국가대표는 엘리트와 대조군 보다 유의하게 높은 TGS를 가졌다($66{\pm}0.9$ vs. $58{\pm}1.9$ vs. $56{\pm}2.3$, p<0.05). 이를 근거로 우성조합유전형이 최우수 근력 경기력을 가질 가능성에 대한 승산비는 2.43배(CI:1.45-4.09, p<0.001)였다. 따라서 ACE 다형성과 ACTN3 다형성은 한국인에서 근력과 관계된 유전형으로 확인되었으며, 두 유전자는 상호 조합된 다중유전형에서 근력 경기력에 영향을 줄 것으로 사료된다. 또한 ACE 다형성과 ACTN3 다형성을 조합한 다중유전자는 근력 경기력을 예측할 수 있은 유전적 요인으로 사료되었다.

• 생명과학회지
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• 제25권1호
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• pp.84-92
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• 2015

Interferon inducible transmembrane protein (IFITM) family 유전자는 인터페론(IFNs)의 동형 세포부착 기능 및 세포의 항-증식 활성과 같은 몇 가지 세포증식 과정에 연관되어 있다. 본 연구에서는 IFITM2 및 IFITM5 SNPs이 궤양성대장염의 감수성과 연관되어 있는지 알아 보고자 했다. 본 연구에서 직접 염기서열 분석법을 사용하여 IFITM2 유전자에서 총 13개, IFITM5 유전자에서는 12개의 유전적 변이를 발굴하였다. 이들의 SNPs의 유전자형 분석은 PCR-RFLP 법과 Taq-Man probe 분석법을 사용하였고, 일배체형 빈도 분석은 EM algorithm을 사용하여 분석하였다. 궤양성대장염 환자에서 IFITM2 및 IFITM5 SNPs의 유전자형과 대립유전자 빈도는 건강인 대조군과 비교했을 때 유의성이 없었다. 궤양성대장염 환자와 정상인 대조군에서 IFITM1의 rs77537847, IFITM2의 rs909097, IFITM5의 rs56069858을 지표로 하는 유전자형 조합 빈도를 분석한 결과 주된 유전자형 조합빈도에서는 유의성이 없는 것으로 나타났으나, 궤양성대장염 환자와 건강인 대조군의 GGT 유전자형조합 빈도 분석에서는 유의하게 다른 차이를 보였다(p=0.002). 이러한 결과에 의거하여 IFITMs의 SNPs 유전자형 조합이 궤양성대장염의 감수성과 연관성이 있고, 궤양성대장염의 유용한 유전자 마커로 사용 할 수 있다고 생각된다.