• BMB Reports
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• 제38권4호
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• pp.486-490
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• 2005

Genetic factors are important in the pathogenesis of coronary artery disease (CAD). Angiotensin converting enzyme (ACE) gene insertion(I)/deletion(D) polymorphism is one of the genetic factor found to be related with CAD. We investigated the association between I/D polymorphism of the ACE gene and the presence of CAD. Threehundred and seven patients (187 males and 120 females, aged between 35-80, mean $54.3{\pm}9.8$ years) who underwent diagnostic coronary angiography were included in the study. ACE I/D polymorphism was detected by polymerase chain reaction. Of the 307, 176 had CAD. The most frequently observed genotype in all subjects was ID (47.9 %). However, in patients with CAD the frequency of II genotype was lower whereas DD genotype was higher compared to the controls (p < 0.05). The number of D allele carrying subjects were also higher (p < 0.05) in CAD patients. The logistic regression analysis indicated that the ACE D allele is an independent risk factor (odds ratio = 1.48, 95% CI = 1.01-2.18, p < 0.05). In conclusion, the I/D polymorphism of ACE gene (carrying D allele) is an independent risk factor for CAD in the studied Turkish population.

• BMB Reports
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• 제35권3호
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• pp.251-254
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• 2002

The genetic factors that contribute to the development of coronary artery disease (CAD) are poorly understood. It is likely that multiple genes that act independently or synergistically contribute to the development of CAD and the outcome. Recently, an insertion/deletion (I/D) polymorphism of the human angiotensin I-converting enzyme (ACE) gene, a major component of the renin-angiotensin system (RAS), was identified. The association of the ACE gene D allele with essential hypertension and CAD has been reported in the African-American, Chinese, and Japanese populations. However, other studies have failed to detect such an association. It has been suggested that these inconsistencies may be due to the difference in backgrounds of the population characteristics. In the present study, we investigated the I/D polymorphism of the ACE gene in 103 subjects of both sexes, consisting of 59 normal controls and 44 patients with hypertension. The allele and genotype frequency were significantly different between the hypertensive and control groups (p < 0.01). Among the three ACE I/D variants, the DD genotype was associated with the highest value of the mean systolic blood pressure [SBP] and mean diastolic blood pressure [DBP] (p = < 0.05) in men, but not in women. In the overall population, the mean SBP and DBP was highest in DD subjects, intermediate in I/D subjects, and the least in II subjects.

• 대한한의학회지
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• 제25권1호
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• pp.31-39
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• 2004

Objectives : The purpose of this study is to report the relationship between iridological constitution and interleukin 1 beta (IL-1 $\beta$) gene polymorphism. Methods : Iris constitution were diagnosed by automatic Iris analysis system, Bexel Irina(Korea). The blood was stored at - $20^{\circ}$... until it was ready to be extracted. The genomic DNA was extracted by inorganic procedure. The concentration of DNA was estimated by absorbance at 260 nm. The interleukin-1 beta (IL-1 $\beta$) gene polymorphism was detected by PCR amplification. Results & Conclusions : The author classified 166 individuals according to Iris constitution, and determined IL-1 $\beta$ genotype. The frequencies of Iris constitutions as follows : neurogenic type, 41 (24.7%); abdominal connective tissue weakness type, 53(31.9%); cardio-renal connective tissue weakness type, 50 (30.1%); the others type, 22 (13.3%). Especially, the frequency of abdominal connective tissue weakness type was significantly higher in err genotype than in the remaining constitutions. As a result, The author demonstrated the association among IL-1 $\beta$ genotype, IBD and Iris constitution.

• 한국동물학회지
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• 제25권3호
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• pp.123-129
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• 1982

한국산 초파리집단의 유전적 특성을 생화학적으로 분석하여 분자유전학적 측면에서 집단 유전학적 체계를 확립하기 위하여 한국산 노랑초파리 (Drosophila melanogaster)의 11개 지역의 자연집단 (청량리, 등촌동, 신촌, 용산, 부천, 춘천, 대전, 대구, 광주, 나주 및 노화도)의 $\\alpha$-glycerophosphate dehydrogenase (\\alpha-GPDH) 인자형을 agarose gel 전기영동법에 의하여 조사 분석한 결과는 다음과 같다. 1. 한국산 노랑초파리 11가지 자연집단에서 $\\alpha$-GPDH allele는 상당한 다형현상을 이루고 있다. 2. $\\alpha$-GPDH allele의 heterozygosity는 $45\\sim50%$로서 상다히 높은 값을 보여주고 있다. 3. $\\alpha$-GPDH allele의 FF 인자형의 빈도는 SS인자형과 비슷하나 FS 인자형보다는 낮은 값을 보이고 있다. 4. $\\alpha$-GPDH allele의 F, S 두인자가 거의 비슷한 빈도를 보이고 있다.

• Korean Journal of Mathematics
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• 제30권1호
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• pp.67-72
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• 2022

For a locus with two alleles (I^A and I^B), the frequencies of the alleles are represented by $$p=f(I^A)={\frac{2N_{AA}+N_{AB}}{2N},\;q=f(I^B)={\frac{2N_{BB}+N_{AB}}{2N}$$ where N_AA, N_AB and N_BB are the numbers of I^AI^A, I^AI^B and I^BI^B respectively and N is the total number of populations. The frequencies of the genotypes expected are calculated by using p², 2pq and q². Choi showed the method of whether some genotypes is in these probabalities. Also he calculate the probability generating function for offspring number of genotype under a diploid model( [1]). In this paper, let x(t, p) be the probability that I^A become fixed in the population by time t-th generation, given that its initial frequency at time t = 0 is p. We find adapted equations for x using the mean change of frequence of alleles and fitness of genotype. Also we apply this adapted equations to several diploid model and it also will apply to actual examples.

• Asian Pacific Journal of Cancer Prevention
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• 제15권17호
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• pp.7357-7362
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• 2014

Interleukin-6 (IL-6), a central proinflammatory cytokine, maintains immune homeostasis and also plays important roles in cervical cancer. Therefore, we aimed to evaluate any associations of IL-6 gene polymorphisms at positions -174 and -572 with predisposition to cervical cancer in a Chinese population. The present hospital-based case-control study comprised 518 patients with cervical cancer and 518 healthy controls. Polymorphisms of the IL-6 gene were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Patients with cervical cancer had a significantly higher frequency of the IL-6 -174 CC genotype [odds ratio (OR) =1.52, 95% confidence interval (CI) = 1.06-2.19; p=0.02], IL-6 -572 CC genotype (OR =1.91, 95% CI = 1.16-3.13; p=0.01) and IL-6 -174 C allele (OR =1.21, 95% CI = 1.02-1.44; p=0.03) compared to healthy controls. When stratifying by the FIGO stage, patients with III-IV cervical cancer had a significantly higher frequency of IL-6 -174 CC genotype (OR =1.64, 95% CI =1.04-2.61; p=0.04). The CC genotypes of the IL-6 gene polymorphisms at positions -174 and -572 may confer a high risk of cervical cancer. Additional studies with detailed human papillomavirus (HPV) infection data are warranted to validate our findings.

• 대한종양외과학회지
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• 제9권2호
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• pp.80-86
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• 2013

Purpose: Hypermethylation of human mut L homologue 1 (hMLH1) promoter region is known to cause sporadic microsatellite instability (MSI) colorectal cancers. 5,10-methylenetetrahydrofolate reductase (MTHFR) is the key enzyme in folate metabolism, acting as a methyl donor for DNA methylation. In this study, we investigate whether the polymorphism of MTHFR 677C>T plays a role in the alteration of the promoter-specific hypermethylation, predisposing to MSI colorectal cancers. Methods: Total of 487 sporadic colorectal cancer patients in CHA Bundang Medical Center were collected. MSI was identified when two or more are positive among five microsatellite markers (BAT25, BAT26, D17S250, D5S346, D2S123). The others were classified as microsatellite stable (MSS). Polymorphism of MTHFR 677C>T was genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: MSI was observed in 65 of 487 patients (12.73%). MSI colorectal cancers showed similar clinicopathological features with previously reported; younger age onset, right-sided preponderance, mucinous and poorly differentiated histology, lower stage, fewer lymph node metastases than MSS tumors (each P<0.05). The frequency of MTHFR 677TT genotype was 17.7% in the MSI group higher than 14.6% in the MSS group (P=0.17). Although not statistically significant, compared to the MTHFR 677CC referent, MTHFR 677 CT+TT genotype was more likely to have MSI than MSS (odds ratio, 1.81; 95% confidence interval, 0.94 to 3.68; P=0.06). Conclusion: This study demonstrated higher frequency of MTHFR 677TT genotype in MSI colorectal cancers. Furthermore, individuals with MTHFR 677CT+TT variant type might potentially develop MSI rather than MSS colorectal cancers.

• Molecules and Cells
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• 제37권1호
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• pp.66-73
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• 2014

Myeloid-derived suppressor cells (MDSCs) play an important role in impairing the function of T cells. We characterized MDSCs in two chronic hepatitis C (CHC) cohorts: a cross-sectional group that included 61 treatment-naive patients with CHC, 14 rapid virologic response (RVR) cases and 22 early virologic response (EVR) cases; and a longitudinal group of 13 cases of RVR and 10 cases of EVR after pegylated-interferon-${\alpha}$/ribavirin treatment for genotype 1b HCV infection. Liver samples from 32 CHC patients and six healthy controls were subjected to immunohistochemical analysis. MDSCs frequency in treatment-naive CHC was significantly higher than in RVR, EVR, or healthy subjects and was positively correlated with HCV RNA. Patients infected with HCV genotype 2a had a significantly higher frequency of MDSCs than those infected with genotype 1b. Decreased T cell receptor (TCR) ${\zeta}$ expression on $CD8^+$ T cells was significantly associated with an increased frequency of MDSCs in treatment-naive CHC patients and was restored by L-arginine treatment in vitro. Increased numbers of liver arginase-$1^+$ cells were closely associated with the histological activity index in CHC. The TCR ${\zeta}$ chain was significantly downregulated on hepatic $CD8^+$ T cells in CHC. During antiviral follow up, MDSCs frequency in peripheral blood mononuclear cells was directly correlated with the HCV RNA load in the plasma and inversely correlated with TCR ${\zeta}$ chain expression in $CD8^+$ T cells in both RVR and EVR cases. Notably, the RVR group had a higher frequency of MDSCs at baseline than the EVR group. Collectively, this study provides evidence that MDSCs might be associated with HCV persistence and downregulation of CD8 ${\zeta}$ chain expression.

• 한국수정란이식학회지
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• 제30권3호
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• pp.183-188
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• 2015

본 연구는 제주마 집단의 모색유전자 분포 특성 및 세대별 모색 유전자 변화 양상을 분석하기 위해 제주특별자치도에서 관리하는 제주마, 1,462두에 대한 모색 관련 유전자인 MC1R, ASIP, ECA3-inversion, STX17을 분석하였다. 흑모색과 관련된 MC1R 유전자의 $E^+/E^+$와 $E^+/E^e$ 유전자형 빈도는 각각 0.122와 0.447로 조사되었고, 적색(chestnut) 유전자형인 $E^e/E^e$ 유전자형 빈도는 0.429로 확인되었다. ASIP 유전자의 $A^A/A^A$, $A^A/A^a$ 및 $A^a/A^a$ 유전자형 빈도는 각각 0.46, 0.448, 0.091로 확인되어 $A^a/A^a$ 유전자형 빈도가 낮았다. 토비아노(Tobiano) 형태를 발현하는 To/To와 +/To 유전자형은 각각 0.001과 0.119로 토비아노 형태의 모색은 12%를 점유하고 있었다. 회색 모색과 관련된 STX17의 G/G와 G/g 유전자형의 빈도는 각각 0.002와 0.680로 나타나 제주마 집단에 회색마는 68.2%를 점유하였다. 세대별 모색 변화는 MC1R, ASIP 유전자에서는 큰 변화를 확인할 수 없었다. ECA3-inversion에서는 토비아노를 발현하는 To allele은 세대변화에 따라 유의적으로 감소하였고(p<0.05), 회색 모색과 관련된 STX17 G allele은 세대변화에 따라 유의적으로 증가하였다(p<0.05). 본 연구결과, 제주마 집단의 모색 다양성을 유지하기 위해서는 종마 선정 단계에 모색 유전자의 검토가 필요한 것으로 사료되었다.

• 대한한의학회지
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• 제25권4호
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• pp.209-219
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• 2004

The author investigated whether ACE/DD, AGN/TT, and ApoE/ε4 genotypes are associated with CI and whether genetic risk is enhanced by Sasang constitutional classification. The author ascertained these genotypes in patients with CI (n=211), diagnosed by brain computed tomography. Control subjects for the infarction group were randomly selected from 319 subjects matched for age, gender, and history of hypertension with patients. The ACE/DD genotype was not associated with CI. However. there was significant association between ApoE polymorphism and CI (x²=15.089, p<.05). Furthermore, frequency of AGN/TT genotype was higher in the patients with CI than in the controls (x²=20.072, p<.05). The frequency of T allele Was 0.91 in patients and 0.82 in controls (x²=17.237, p<.05). However, the Sasang constitutional classification did not increase the relative risk for CI in the subjects with ApoE/ε4 or AGN/T allele. These results suggest that ApoE and AGN polymorphism predict CI. but Sasang constitutional classification does not enhance the risk for CI associated with ApoE/ε4 or AGN/TT in a Korean population.