• Childhood Kidney Diseases
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• v.7 no.1
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• pp.52-59
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• 2003

Purpose : The renin-angiotensin system(RAS) plays an important role in renal growth and development. We have studied the prevalence of renal anomalies and documented the association between karyotype and renal anomalies using IVP and ultrasonography. Furthermore, to investigate the impact of RAS gene polymorphism on renal anomaly in Turner syndrome, we examined the ACE I/D genotype, angiotensinogen(AGT) gene M235T, angiotensin receptor type 1(ATR) gene A1166C. Methods : Cytogenetic analysis was performed in 33 Turner syndrome patients on peripheral blood lymphocytes. Ultrasonography(US) of the kidneys and collecting system and intravenous pyelography(IVP) were perfomed in all patients. Nuclear scintigraphy{Tc 99m dimercaptosuccinic acid(DMSA) scan} was also performed for the definite renal diagnosis if indicated. And, ACE I/D genotype, angiotensinogen(AGT) gene M235T, angiotensin receptor type 1(ATR) gene A1166C were examined by PCR amplification of genomic DNA samples. Results : The prevalence of renal anolmalies in Turner syndrome was 36.4%(12/33). The Karyotype 45, X was observed in 18 of the 33 girls(54.5%), of whom 8(44.4%) had renal anomalies. Mosaic karyotypes were observed in 11(33.3%) and four(12.2%) had a non-mosaic structural aberration of the X chromosome. In this group 4(25.7%) had renal anomalies. More renal anomalies were associated with the 45, X karyotype than those with mosaic/structural abnormalities of X chromosome, but the difference was not statistically significant(P>0.05). And, there was no significant differences in the RAS gene polymorphism and allele frequencies between renal anomaly group and normal group in Turner syndrome. Conclusion : The prevalence of renal anolmalies in Turner syndrome was 36.4%. There is no significant differences in the RAS gene polymorphism and allele frequencies between the renal anomaly group and the normal group in Turner syndrome.

• Journal of Sasang Constitutional Medicine
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• v.11 no.2
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• pp.185-194
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• 1999

Recently some report has been published on the classification of Sasang constitution by analysis of genetic polymorphism. In this study, to present the ideas in the study on the classification of Sasang constitution based on the genetic variation of individuals, we reviewed the previous studies dealing with relationship between genetic polymorphism and Sasang constitution and suggested new molecular biological methodologies applicable to the classification of Sasang constitution. The results were as follow; 1. In the studies on the classification of constitution by analysis of genetic polymorphism, the special genes were desirable as subjects rather than the non-functional part of genome such as inter-gene and intron. Since microsatellite is usually located in inter-gene or intron, representation of constitutions may not associated with the polymorphism of certain microsatellite. 2. It may possible that polymorphism patterns of the genes related to the expression of individuality is associated with the types of Sasang constitutions. Therefore, angiotensin converting enzyme (ACE) which known have some role in the determination the human performance is one of the candidate genes can use for the classification of Sasang constitutions. 3. It is well known that HLA types are very variable in human and closely associated with the determination of susceptibility for certain disease. The studies on the polymorphism of HLA types may applicable to the classification of Sasang constitutions. 4. DNA chip technique which developed recently for the analysis of the expression of human genes may powerful tools in the study of Sasang medicine.

• Childhood Kidney Diseases
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• v.9 no.2
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• pp.193-200
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• 2005

Purpose : An atrophic renal scar(RS) is one of the underlying causes for childhood hyper tension and chronic renal failure. The risk factors for atrophic renal scar were evaluated. Methods : 41 children, who presented with first febrile urinary tract Infection at the Ewha Womans University Hospital between 1995 and 2003 and had generalized atrophic RS on $^{99m}Tc-DMSA$ renal scan, were retrospectively studied. Atrophic RS was divided into severe atrophic RS(n=14) if relative uptake on renal scan was below 10$\%$, or mild atrophic RS(n=27) if relative uptake on renal scan was between 10-35$\%$. RS was defined as congenital if the scar was detected on the first renal scan, and as acquired if the scar developed on the follow-up renal scan from acute pyelonephritis of the first renal scan. The control group was consisted of randomly selected 41 children with segmental RS. The risk factors for atrophic RS such as the generation time, VUR, gender and ACE gene polymorphism were evaluated. Results : The age distribution of atrophic RS and segmental RS did not differ significantly (P>0.05). The rate of congenital RS in atrophic RS was 61.0$\%$(25/41), which was significantly higher than 9.8$\%$(4/41) of segmental RS(P<0.01). Atrophic RS developed mote frequently in male children(M:F 68.3$\%$ 31.7$\%$) than segmental RS(M:F 41.4$\%$ .58.5$\%$)(P<0.05). Vesicoureteral reflux(VUR) was found in 92.7$\%$(38/41) of 4he atrophic RS, which was significantly higher than 53.7$\%$(22/41) of segmental RS(P<0.05). In children without VUR, the male to female ratio did not differ between atrophic RS and segmental RS(P>0.05) But in children with VUR, there was a higher proportion of males with severe atrophic RS than segmental RS($85.7\%:45.5\%$) ACE gene polymorphism did not differ between the atrophic and segmental RS groups, irrespective of the presence of VUR(P>0.05). Conclusion : Most atrophic RSs were congenital which could not be preventable postnatally and the major risk factors were VUR and the male gender. ACE gene polymorphism was not the significant risk factor for an atrophic RS. (J Korean Soc Pedialr Nephrol 2005;9:193-200)

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.24
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• pp.10691-10695
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• 2015

Background: Association of angiotensin converting enzyme (ACE) gene polymorphisms with lung cancer susceptibility remains uncertain and varies with ethnicity. Northeast India represents a geographically, culturally, and ethnically isolated population. The area reports an especially high rate of tobacco usage in a variety of ways of consumption, compared with the rest of the Indian population. Materials and Methods: We conducted a population based case control study in two major high risk region for lung cancer from Northeast India. A total of 151 consecutive lung cancer cases diagnosed histopathologically and equal numbers of controls were recruited with record of relevant sociodemographic information. Blood samples were collected and processed to identify ACE gene polymorphism. Results: Significantly higher (40.4 % vs 29.1%, OR=1.97, CI=1.04-3.72; p=0.037) prevalence of the ACE II genotype was observed among lung cancer cases. Smoking was significantly associated with increased risk of lung cancer (OR=1.70, CI=1.02-2.81; p=0.041). An enhanced risk was also observed for interaction of ACE II genotype with tobacco smoking (OR=4.09, CI=1.51-11.05; p=0.005) and chewing (OR=3.68, CI=1.22-11.13; p=0.021). Conclusions: The present study indicates significant association s of the ACE II genotype with lung cancer in high risk Northeast India.

• Childhood Kidney Diseases
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• v.8 no.1
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• pp.18-25
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• 2004

Purpose : Alport syndrome is clinically characterized by hereditary progressive nephritis causing ESRD with irregular thickening of the GBM and sensory neural hearing loss. The mutations of type IV collagen gene(COL4A5) located on the long arm of X chromosome is considered responsible for most of the structural abnormalities in the GBM of Alport patients. Since no definite clinical prognostic predictor has been reported in the disease yet, we designed this study to evaluate the significance of genetic polymorphism of the angiotensin converting enzyme in children with Alport syndrome as a prognostic factor for disease progression. Methods : ACE I/D genotype were examined by PCR amplification of the genomic DNA in 12 patients with Alport syndrome and 12 of their family members. Alport patients were divided into two groups; the conservative group, those who had preserved renal function for more than 10 years of age, the early CRF group, those who had progressed to CRF within 10 years of age. Results : The mean age of onset was $3.45{\pm}2.4$ years in the conservative group, $4.4{\pm}1.2$ years in the early CRF group. Sex ratios were 5:3 and 2:1 in each group. Among 12 cases of patients, 4 cases were in early CRF group and their mean duration of onset to CRF was 4.5 yews(8.9 years of age). Eight patients(67%) were in the conservative group and they had normal renal function for more than 10 years of age(mean duration of renal preservation was 10.6 years). The incidence of II type ACE gene were in 25.0%(3 cases), ID type in 41.7%(5 cases), DD type in 33.3%(4 cases). There was no significant difference between Alport patient and normal control(II type 44.3%, ID type 40.9%, DD type 14.8%). The incidence of DD type of early CRF group were higher than that of the conservative group(75% vs 12.5%)(p<0.05). There was no difference in ACE gene polymorphism between normal Alport family members and control group. Conclusion : Even though there was no significant difference of ACE polymorphism between Alport patients and the normal control group, the incidence of DD type is significantly increased in early CRF group which means DD type of ACE polymorphism has a possibility of being a predictor for early progression to CRF in Alport patients.

• 대한예방의학회:학술대회논문집
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• 2002.05a
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• pp.92-92
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• 2002

• Childhood Kidney Diseases
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• v.5 no.1
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• pp.43-50
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• 2001

Purpose : The urinary tract infection associated with vesicoureteral reflux(VUR) in children may result in serious complications such as renal scarring, hypertension, proteinuria and end stage renal disease. The purpose of this study was to evaluate the factors affecting renal scar such as age, gender, grade of VUR, and ACE gene polymorphism, and body growth in the patients with and those without renal scar associated with VUR Methods : During the period from January 1994 to July 2000, We had 93 children with urinary tract infection associated with VUR who were admitted to the Department of pediatrics of Chonbuk National University Hospital. The patients were divided into two groups according to follow up 99mTc-DMSA renal scan; patients with renal scar group and those with non-scar group. We analyzed and compared the factors associated with renal scarring between the two groups. Results : There were no significant difference in gender, causative organism, ACE gene polymorphism, height and weight at diagnosis between renal scar group and non-scar group. Fifty four patients were in renal scar group and forty seven of them had VUR. The age at diagnosis was significantly higher in renal scar group (2.48${\pm}$2.64yr) than in non renal scar group (1.26${\pm}$1.83yr). Especially, the infants who were less than 1 year of age with VUR developed relatively more renal scar compared with infants older than 1 tear of age. The incidence of renal scarring showed a direct correlation with the severity of VUR. Conclusion : The factors affecting renal scar formation were age at diagnosis, presence and grade of VUR, but the other factors such as gender, causative organism, ACE gene polymorphism were not associated with renal scarring. Therefore, further evaluation about uropathogenic E coli and foflow up study about body growth associated with severity of renal scar would be necessary. (J. Korean Soc Pediatr Nephrol 5 : 43- 50, 2001)

• Journal of Sasang Constitutional Medicine
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• v.10 no.2
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• pp.283-290
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• 1998

Sasang Constitutional Medicine focuses on the different constitutional manifestations of the individual's nature and emotions. The nature and emotions drive the ascending and descending of Qi in the body. And this dynamics of the Qi's ascent and descent shapes the different types of structures, functions and temperaments. Although Sasang Constitutional Medicine has many advantages, its diagnosis of the constitution still depends on the doctors' own idea and has no objective identification. So many doctors in Korea have been trying to solve this problem. Recently, there are several efforts to find out the relationship between genetic information and constitution. By the way, May, 1998 there is a astonishing report about the gene which determines the human performance, that is ACE(angiotensin converting enzyme). And it suggests that the I allele was associated with improved endurance performance. ACE has three genotype including II, ID and DD. "I" means insertion and "D" means deletion. We determined the type of the Sasang constitution with QSCCII questionaire and the one's ACE genotype with PCR of the 127 people and we discovered the relationship between the constitution and the ACE genotype. The result is as follow. Among 39 people who have the II genotype, 7(18%) belong to Taeum(Taiyin), 9(23.1%) belong to Soyang(Shaoyang) and 23(59%) belong to Soeum(Shaoyin). Among 62 people who have the ID genotype, 18(29%) belong to Taeum(Taiyin), 21(33.9%) belong to Soyang(Shaoyang) and 23(37.1%) belong to Soeum(Shaoyin). Among 26 people who have DD genotype, 11(42.3%) belong to Taeum(Taiyin), 4(15.4%) belong to Soyang(Shaoyang) and 11(42.3%) belong to Soeum(Shaoyin). This data indicates that there are implicable relationship between the Sasang constitution and ACE genotype. Especially people who have II genotype have much possibility to be a Soeum(Shaoyin) person (59%) and Soyang(Shaoyang) person have less possibility to have DD genotype (15.4%). With this conclusion, we suggest further study of relationship between the Sasang constitution and ACE genotype and we think that other polymorphism can be a candidate of the partner of Sasang constitution.

• The Korean Journal of Applied Statistics
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• v.18 no.2
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• pp.297-310
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• 2005

In this study we investigate the association between the haplotype block of 4 SNPs in ACE genes and hypertension with a case-control dataset of size of 277 and 40 families data collected from Kangwha studies. To this end we perform a haplotype-based case-control association study and a haplotype-based TDT study. We do the same analysis with tag-SNPs that can identify the haplotype block. Through a cladogram analysis we make the evolution-tree of haplotypes and then classify the haplotypes into a few clades by collecting haplotypes exposed to the disease to the same extent. We also discuss the association between these clades and hypertension.

• Clinical and Experimental Pediatrics
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• v.52 no.2
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• pp.187-193
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• 2009

Purpose : Adiponectin is a molecule that plays an important role in the metabolic syndrome. In addition, its concentration is known to be decreased in obesity, type 2 diabetes, and coronary artery disease. Although a relationship between hypertension and serum adiponectin concentrations has been reported by several authors, such findings continue to be debated. We investigated whether hypoadiponectinemia is related to hypertension in adolescents and studied the associated genetic polymorphism. Methods : Forty hypertensive adolescents (Age 16-17 years old) and twenty normotensive matched subjects were included. Serum adipo-nectin, insulin, renin, aldosterone and angiotensin converting enzyme (ACE) levels were compared. Their carotid intima-media thickness (cIMT) and pulse wave velocity (PWV) were measured. Polymorphisms of the adiponectin I164T gene were investigated using polymerase chain reaction (PCR). Results : The hypertensive adolescents had significantly greater cIMT and PWV. In addition, the serum aldosterone, renin and insulin levels were significantly higher in the hypertensive group. The plasma concentrations of adiponectin did not differ significantly between the two groups. TC genotype was not found in our study subjects; they all had the TT genotype of the adiponectine gene. Conclusion : The results of our study showed that adiponectin levels were not significantly different in adolescents with hypertension. There was no distinctive genetic polymorphism observed in this group of patients. Further large scale studies are needed to clarify the association between genetic variations and adiponectin in hypertensive adolescents.