• 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.

• Asian Pacific Journal of Cancer Prevention
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• 제13권7호
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• pp.3305-3311
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• 2012

Background: The present study aimed to find the prognostic implications of two polymorphisms in TP53 (p.R72P, PIN3 Ins16bp) and one in CCR5 ($CCR5{\Delta}32$) in sporadic breast cancer patients. Methods: DNA samples of 80 breast cancer patients and 80 age and gender matched unrelated healthy control individuals from Punjab, North West India were analyzed. Results: For p.R72P, the genotype frequency was 13.8% (RR), 58.8% (RP), 27.5% (PP) in patients and 33.9% (RR), 40.0% (RP), 26.5% (PP) in controls. For PIN3 Ins16bp, the genotype frequencies were 53.75% (A1A1), 37.5% (A1A2), 8.75% (A2A2) in patients and 66.3% (A1A1), 31.3% (A1A2), 2.5% (A2A2) in controls. Only 4 (5%) breast cancer patients were heterozygous for $CCR5{\Delta}32$ deletion. Common RR-A1A1-WT/WT genotype was lower while RP-A1A2-WT/WT genotype was higher in patients as compared to controls. RP-A1A1-WT/WT genotype was significantly higher in patients as compared to control individuals (p = 0.008). Conclusion: Though a clear association of any particular genotype with sporadic breast cancer or stage was not apparent, the results of present study were suggestive that sporadic breast cancer patients with RR-A1A1-WT/WT genotype might have a better response to chemotherapy, thus improving their chances of survival.

• 한국환경성돌연변이발암원학회지
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• 제23권1호
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• pp.23-29
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• 2003

To determine the frequencies of the genotypes of estrogen metabolising enzyme (CYP17, CYP1A1, CYP1B1, and COMT) and to identify the high-risk genotypes of these metabolic enzymes to breast cancer in Korean, the author has analysed 115 breast cancer patients and corresponding age and sex matched heathy controls using polymerase chain reaction-restiction fragment length polymorphism (PCR-RFLP). A2/A2 genotype in CYP17 polymorphism, m2/m2 genotype in CYP1A1 polymorphism, and Val/Val genotype in CYP1B1 had 0.95, 1.40 and 0.76 relive risks to breast cancer comparing with reference genotypes of each polymorphism, respectively. Among the genotypes of COMT enzyme polymorphism, L/H and L/L genotypes had 0.97 and 1.54 relative risks to breast cancer, respectively. According to the number of high risk genotype, the patients with one or two putative high risk genotypes had 0.95 and 1.94 relative risks to breast cancer, respectively. This study have demonstrated the unique frequency of genotypes of estrogen metabolizing enzyme in Korean healthy women, which will provide the basic data and insights to study the estrogen related conditions in Korean women including breast and endometrial cancers. And it also indicates that the well-known high risk genotypes of estrogen metabolizing enzymes are not significantly associated with the development of breast cancer in Korean women.

• Toxicological Research
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• 제18권4호
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• pp.341-347
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• 2002

Hypertension is a multifactorial disorder in which the genetic and environmental factors are involved. In a view of the effects for hypertension as a risk factor for hypertension, we investigated the genotype and allele frequencies in the four RFLPs of the apo AI-CIII-AIV gene cluster (G to A mutation at position -75 in the apo AI promoter SstI RFLP in the ape CIII gene and HincII and HinfI RFLPs in the apo AIV gene) in the Korean patients with hypertension and normal controls. The AA genotype frequency of the G to A promoter polymorphism in hypertensives was significantly higher than that of normotensives (P < 0.05). None of the other polymorphisms showed a difference in genotype frequency between two groups. Therefore, our result suggest that the G to A promoter polymorphism of the ape AI gene may be useful as genetic marker in the ethiology of hypertension.

• Korean Journal of Acupuncture
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• 제21권1호
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• pp.41-50
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• 2004

Objectives : This study was designed to investigate the differences of effects in smoking cessation after acupuncture treatment and we hypothesized that the discrepancies might be caused by individual genetic differences. Methods : Acupuncture treatment was given to the subjects three times a week for the 231 healthy male Korean smokers without personal or familial history of psychiatric or neurological illness. We evaluated for differentiate responder and non-responder who showed more than 50% decrease in the cigarette consumption or the desire for smoking were regarded as responder, and less than 25% decrease in the cigarette consumption or the desire for smoking were regarded as non-responder, respectively. Allele and genotype frequencies of the Taq1 A polymorphism of dopamine D2 receptor (DRD2) gene were compared in 231male smokers. Chai-square analyses were performed to test for an interactive effect between the DRD2 Taq1 A allele. Results : The allele frequencies and genotype distributions of DRD2 gene among the smokers (n = 231) showed significant the differences in their genotype distributions. The responder and non-responder showed the difference in genotype distribution with a prevalence of A1 allele. A slightly positive association of DRD2 Taq1 A1 genotypes with smoking was observed. Conclusions : This experiment results indicate that the present of DRD2 allele genotype showing significant difference in the genotype distributions between responders and non-responders could be explained by the difference in the genetic effect of DRD2 A1 allele.

• Neonatal Medicine
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• 제16권2호
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• pp.137-145
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• 2009

목 적: 본 연구의 목적은 한국 미숙아에서의 IL-10 유전자형의 빈도와 신생아 호흡 곤란증의 발생 빈도와의 연관성을 조사하고자 하였다. 방 법: 이대목동병원에서 2003년도 11월부터 2008년도 7월에 태어난 214명의 미숙아를 대상으로 하였다. 제대혈과 모체혈에서 IL-10 유전자(IL-10 -1082A/G, -819T/C, -592A/C) 의 다형성을 조사하였고, 임상적인 자료는 의무기록조사를 통해서 분석하였다. 결 과: 미숙아를 분만한 한국 엄마들의 유전자형 빈도는 기존의 보고된 바와 달랐다. IL-10-1082GG homozygote는 발견되지 않았고, 다변량 회귀분석에서 호흡곤란증은 IL-10-592AC/CC 유전형에서 AA 유전자형보다 적게 발현되었다(P=0.033). 호흡곤란증의 위험도가 모체가 IL-10-819TC/CC 유전자형인 경우 TT 유전자형보다 적게 발견되었다(P-0.030). 하지만 제대혈에서는 이러한 차이가 없었다. 각각의 유전자형에서 분석해보면 IL-10 A-1082G/T-819C/A-592C 중, ACC haplotype인 경우, 호흡곤란증에서 보호되는 효과가 있었다(P=0.07). 결 론: 모체의 IL-10-592A/C 과 IL-10-819T/C 유전자 다형성이 미숙아에서 호흡곤란증의 발생에 관여한다고 생각된다.

• 생물정신의학
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• 제14권4호
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• pp.241-248
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• 2007

Objectives : Schizophrenia is equally distributed in both sexes. However, later-onset, milder psychopathology, and better outcome are associated with the females. This reason is thought to be partly due to the estrogen system. Recently, it was suggested that estrogen receptor 1(ESR1) gene polymorphisms might affect the expression of ESR1 and were associated with several psychiatric disorders. Thus, we investigated the association between two single nucleotide polymorphisms(SNPs) in the ESR1 gene and Korean schizophrenic patients in this study. Methods : Genotype, allele, and haplotype frequencies of the two SNPs(rs 2234693 and rs 2228480) were analyzed between 218 Korean controls and 158 Korean schizophrenic patients. Also, age of onset and negative symptom scale scores according to genotypes were analyzed in the patients with schizophrenia. Results : There was a significant difference in allele frequencies of rs 2234693 between the schizophrenic patients and the controls(p=0.03). Genotype distributions(p=0.03) and allele frequencies(p=0.01) of rs 2234693 were significantly different between the female schizophrenic patients and the female controls. The frequency of TC-CC genotypes compared with TT genotype in the female schizophrenic patients was significantly higher than that in the female controls(OR=2.36). The mean age of onset in the schizophrenic patients with TC-CC genotypes was significantly lower than that in the patients with TT genotype. The frequency of rs 2234693C- rs 2228480G haplotype in the female schizophrenic patients was relatively higher than that in the female controls. Conclusions : These results of our study support the possibility that the ESR1 gene polymorphisms might be involved in the susceptibility of females to schizophrenia and play a role in sex difference of schizophrenia.

• 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.

• Asian Pacific Journal of Cancer Prevention
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• 제16권7호
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• pp.3073-3077
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• 2015

Background: TP53 mutations are the most common genetic alterations in human cancers. There are also several polymorphisms in both exons and introns of TP53 that may influence its anti-tumor functions and increase the risk of cancer development. Associations of the TP53 intron 6 G13964C polymorphism with increased risk of development of several cancers have been investigated in numerous studies, but the results were controversial and conflicting. In this study, we aimed to investigate the probable association of this polymorphism with risk of both thyroid and breast cancers among the Iranian-Azeri population. Materials and Methods: We performed two separate case control studies on associations of the intron 6 polymorphism with two different kinds of cancer. In one case-control study, a total of 75 patients with thyroid carcinoma and 180 controls were analyzed and the other study included 170 patients with breast cancer and 135 healthy women. The intron 6 genotype was determined by RFLP-PCR and the SPSS 16 program was applied for data analysis. Results: For thyroid cancer, the frequencies of GG genotype were 96.0% in patients and 93.3% in controls. The GC genotype had a frequency of 4.0 % in patients and 6.7% in controls. In the study on breast cancer, the frequency of GG and GC genotypes in patients were 95.3% and 4.7%, respectively. In breast related control group, the frequency of GG genotype was 93.3 % and the frequency of GC genotype was 6.7%. None of the cases and controls had the CC genotype. Conclusions: There was no significant association between the TP53 intron 6 G13964C polymorphism and risk of development of both thyroid and breast cancer in Iranian-Azeri patients.

• Asian-Australasian Journal of Animal Sciences
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• 제17권10호
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• pp.1366-1368
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• 2004

The Mafriwal dairy cattle was developed to meet the demands of the Malaysian dairy Industry. Although there are reports on its production and reproductive performance, there has been no work on its molecular characterization. This study was conducted to characterize the Mafriwal dairy cattle using microsatellite markers. Fifty two microsatellite loci were analysed for forty Mafriwal dairy cows kept at Institut Haiwan Kluang, Malaysia. The study showed two microsatellite loci to be monomorphic. Allele frequencies for the polymorphic loci ranged from 0.01 to 0.31. Genotype frequencies ranged from 0.03 to 0.33. The mean overall heterozygosity was 0.79. All polymorphic microsatellite loci deviated significantly (p<0.01) from Hardy-Weinberg equilibrium. The Mafriwal dairy cattle showed high genetic variability despite being a nucleus herd and artificial insemination being practiced.