• Journal of Genetic Medicine
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• v.6 no.2
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• pp.121-130
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• 2009

Medical Research Center, Seoul National University College of Medicine, Seoul, Korea To analyze a wide variety of polymorphisms in patients with endometriosis is important since this disease has a strong genetic component. Until now, more than 30 Korean studies have been performed in order to elucidate the possible role of specific polymorphisms in the susceptibility to endometriosis. The most meaningful polymorphisms in Korean patients with endometriosis came from studies investigating GSTM1, AhRR, ER-alpha, VEGF, AHSG, and TNF-alpha. However, following studies should be made to confirm the consistency of the data to have some implications in the prediction of endometriosis. In this review, we also present the future direction of the association studies in complex trait disease such as endometriosis.

• Journal of the Korean Chemical Society
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• v.50 no.2
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• pp.123-128
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• 2006

Behcet's disease (BD) is a systemic vasculitis characterized by recurrent oral and genital ulcers, and ocular inflammation, and which may involve the joints, skin, central nervous system and gastrointestinal tract. Although the exact pathogenesis for BD is not completely understood, it has been suggested that the disease is triggered in genetically susceptible individuals by environmental factors, such as microbial agents. It is noted that multiple genes, including MHC (major histocompatibility complex) and non-MHC genes, are implicated in the pathogenesis of BD. This study tries to determine whether IL-6 gene polymorphisms are associated with susceptibility to Behcet's disease in Koreans. Gene polymorphisms were typed by VNTR (variable number of tandem repeat), RFLP (restriction fragment length polymorphism), DHPLC (denaturing high performance liquid chromatography).There were no evidences for genetic association conferred by the IL-6prom polymorphism. However, significant differences in the IL-6vntr genotype and allele frequencies were found between patients with BD and controls. The IL-6vntr*C allele appeared to be an additional susceptibility gene to Korean BD. Further studies in other populations and gene are required to confirm these results.

• Korean Journal of Plant Tissue Culture
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• v.26 no.4
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• pp.235-240
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• 1999

The usefulness of randomly amplified polymorphic DNA (RAPD) was evaluated to access the genetic variation in somaclones derived from different cytotype plants of Scilla scilloides Complex, AA (2n=16), BB (2n=18) and AABB (2n=34). Three arbitrary decamer primers were successfully used to amplify genomic DNA from the somaclones. DNA polymorphism was observed between cytotypes. The total number of bands in AA, BB and AABB somaclones were 110, 116 and 103, and marker bands examined were 15, 19 and 26, respectively. The diversity of types using PCR in AA, AABB and BB somaclones were 39.2%, 72.3% and 45.7%, respectively. RAPD band patterns suggest that type AA is more stable than type BB and AABB. The frequencies of specific band in AA, BB or AABB somaclones were 0.9%, 4.3% and 4.9%, respectively. The applicability and reliability of RAPD markers for evaluating the somaclones are discussed.

• Sleep Medicine and Psychophysiology
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• v.14 no.1
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• pp.26-32
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• 2007

Objectives: Angiotensin-converting enzyme (ACE) gene polymorphism has been reported to be associated with depression and therapeutic outcome in depression. The purpose of this study was to determine whether ACE gene polymorphism is associated with seasonal variation in mood and behavior in a young Korean college student sample. Methods: 297 young Korean medical students were recruited in this study. All subjects were free of major medical and psychiatric problems. They were genotyped for the ACE gene polymorphism and evaluated the seasonal variation in mood and behavior by the Seasonality Pattern Assessment Questionnaire (SPAQ). Results: Global Seasonality Score (GSS) of SPAQ between three genotypes were not different. However, comparison of the group that showed seasonality of mood and behavior during winter with the group that did not showed seasonality indicated significant difference in genotype distribution ($x^2=6.79$, p=0.034). The D allele non-carrier (ll genotype) frequency was significantly higher in winter seasonality group than non-seasonality group ($x^2=6.59$, p=0.010；odds ratio [OR]=2.27, 95% confidence interval [CI] 1.20-4.28). Conclusion: These results suggest that the ACE gene polymorphism is related to winter-type seasonality in a Korean population.

• Pediatric Infection and Vaccine
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• v.15 no.2
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• pp.195-201
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• 2008

Purpose : We hypothesized that the mannose binding lectin gene (MBL2), a key molecule of innate immunity may contribute to the development of Kawasaki disease (KD) in early childhood. This study was performed to investigate the polymorphisms of MBL2 and the risk of developing KD in Korean children. Methods : The study subjects were 112 children with KD who were admitted to the Seoul National University Bundang Hospital between October 2003 and March 2005. The control subjects consisted of 224 anonymous, healthy Korean blood donors. Extracted genomic DNA was amplified for codon 54 of MBL2 exon 1 and alleles (a and b) were assigned via sequencing analysis. The frequency of the alleles of the MBL2 exon 1 was compared between the case and control groups. Results : The median age of patients was 27 months (range, 3 months-7 years), 45.5% were <24 months of age and 54.5% were ${\geq}2$ years. The genotype distribution reached Hardy-Weinberg equilibrium in both cases and control subjects. In the cases with KD, the genotypic frequencies of codon 54 polymorphisms were 67.9% for aa, 29.5% for ab, and 2.6% for bb. There were no significant differences in the overall distribution of the polymorphisms between the cases and the control subjects. In addition, the genotype distribution was not different according to age. Conclusions : Our findings indicate that the codon 54 polymorphism of the MBL2 gene is not likely to contribute to the risk of developing KD in Korean children. Further studies on the development of coronary artery lesions with regard to MBL2 genotypes are warranted.

• The Journal of Internal Korean Medicine
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• v.25 no.4
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• pp.18-24
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• 2004

연구배경 : 플라스미노겐 활성 억제인자-1 (plasminogen activator inhibitor-1; PAI-1)은 허혈성 뇌경색의 발생의 원인이 되는 섬유소 용해작용의 저하를 매개하는 인자로서, PAI-1의 작용이 촉진되면 섬유소 용해기능이 저하되어 관상동맥 및 뇌혈관질환의 발생을 증가시키게 된다. PAI-1 유전자의 촉진자(promoter) 영역에는 -675 4G/5G (4G/5G)와A -844G (A/G)의 두 개의 유전자 다형성이 존재하며, 이는 PAI-1의 유전자 전사과정에 영향을 미쳐 혈청 PAI-1의 농도를 증가시키고 결과적으로 허혈성 뇌경색의 발생확률을 높이는 작용을 하게 된다. 연구방법 : 허혈성 뇌경색으로 진단 받은 167명의 환자와 173명의 건강인의 말초혈액에서 DNA를 분리한 후 PAI-1의 4G/5G와 A/G 유전자 다형성에 대한 연쇄중합반응 및 제한효소 절편길이 다형성 (polymerase chain reaction-restriction fragment length polymorphism; PCR-RFLP) 방법을 이용하여 허혈성 뇌경색 발생과 유전자 다형성과의 관계를 비교 분석하였다. 결과 : 허혈성 뇌경색 환자에서의 4G/4G의 유전자형의 빈도는 15.0%으로 정상 대조군의 33.5%에 비해 현저하게 낮게 나타났다 (P < 0.0001). 각각의 유전자형과 허혈성 뇌경색의 발생 위험도 (odd ratio ; OR)와의 관계를 분석했을 때 4G/4G 유전자형을 가질 경우 위험도는 0.35배로 현저하게 낮아졌으며, (P < 0.0001), 5G/5G 유전자형을 가질 경우 위험도는 4.49배 로 현저하게 높아졌다 (P < 0.0001). 그러나, A/G 유전자 다형성과 허혈성 뇌경색의 발생과는 유의한 연관성을 발견하지 못하였다. 결론 : 이상의 결과로 볼 때 PAI-1 유전자의 4G/4G 유전자형은 허혈성 뇌경색의 발생 비율을 감소시키는 작용을 하는 것으로 여겨진다.

• Journal of Life Science
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• v.14 no.2
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• pp.275-279
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• 2004

Gene polymorphisms of cytokines and their receptors are attractive candidates as genetic factors in the pathogenesis of immune-mediated diseases and have been reported to be associated with disease susceptibility to autoimmune, inflammatory and infectious diseases. IL-29 is one of important candidate genes for complex trait of genetic diseases but there is no published survey of single nucleotide polymorphisms (SNPs) in this gene. In this study, for the first time, we have examined the full genomic sequence of IL-29 including the promoter regions to identify SNPs. We examined the frequencies of genotypes and alleles at the SNP site of IL-29 in allergic rhinitis patients and non-allergic rhinitis controls using the direct sequencing method to determine whether this IL-29 SNP is associated with allergic rhinitis in Korean population. We identified one novel SNP (1184C＞A) in the intron 2 and one novel variation site (-1842_-1841dupGA) in the promoter region of human IL-29 gene. The P values of SNP or variation site were not significant between the healthy controls and allergic rhinitis patients. Our results suggest that the 1184C＞A polymorphism and -1842_-1841dupGA variation site in human IL-29 gene were not associated to allergic rhinitis.

• Korean Journal of Biological Psychiatry
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• v.2 no.2
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• pp.248-251
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• 1995

정신분열병의 약물치료에서 중요한 역할을 하는 도파민의 기전은 지금까지 5종류의 수용체들이 발견되고 클론되면서, 새롭고 보다 근본적인 유전학적 접근을 통해 규명될 수 있게 되었다. 특히, 도파민 수용체 D4 (DRD4)는 막단백질의 세포질쪽 세번째굴곡에 48-bp반복 다형성배열을 가지고있다. 이러한 다형성 반복배열이 신호전달에 참여할 가능성이 높은 막단백질의 세포질쪽 굴곡에 있다는것은, 각 개인의 항정신병약물에 대한 민감성의 차이를 포함하여 정신분열병에 대한 개개인의 유전적 차이를 진단할 수 있는 가능성을 제시한다. 이러한 가능성을 검증하기 위하여 주로 손쉽고 빠른 중합효소연쇄반응(PCR)을 사용하여 DRD4의 아형들을 분류하게 되는데, DRD4의 PCR은 그 반복배열과 그 주변배열의 높은 GC함량(78% G+C) 때문에 일반적인 PCR 방법을 변형시켜 사용해야한다. DRD4의 아형을 분류하기 위해 변형된 PCR은 통상적으로 7-deaza dGTP와 10% DMSO를 사용하게된다. 이러한 DRD4 PCR은 대부분의 경우 성공하지만, 항상 모든 시료에서 PCR이 성공되는것은 아니었으며 반복적으로 시도하여 증폭시킬 수 있었다. 이러한 어려움은 대부분이 template DNA에 문제가 있을것으로 의심되며 DNA정제 또는 template DNA를 제한효소로 적절하게 무작위절단하여 성공율을 높일 수 있었다.

• Clinical and Experimental Pediatrics
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• v.50 no.1
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• pp.28-32
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• 2007

Purpose : Human angiotensin converting enzyme (ACE) gene shows an insertion/deletion polymorphism in 16 intron, and three genotypes are determined by whether a 287 bp fragment of the DNA is present or not; II, ID and DD genotype. DD genotype has been suggested as a risk factor of chronic nephrotic disease such as IgA nephropathy and diabetic nephropathy, various cardiovascular diseases and several other diseases. ACE activity increases in acute hepatitis, chronic persistent hepatitis, chronic active hepatitis and cirrhosis. On the other hand, patients with fatty livers have normal ACE activity. This study was designed to find out the relation between polymorphsims of the ACE genes and neonatal hyperbilirubinemia in Koreans. Methods : The genomic DNA was isolated from 110 full-term Korean neonates who had hyperbilirubinemia with no obvious causes (serum bilirubin$${\geq_-}12mg/dL$$) and 164 neonates of a control population (serum bilirubin <12 mg/dL). We performed polymerase chain reaction (PCR) to see the allele of the ACE gene. Electrophoresis was done in the PCR products in 1.5 percent agarose gel, and then DNA patterns were directly visualized under ethidium bromide staining. Results : ACE genotypes in the hyperbilirubinemia group are as follows; 26.36 percent for II, 53.64 percent for ID, 20.00 percent for DD, 0.532 for I allele and 0.468 for D allele. These distributions were not significantly different from those in the control group; 24.39 percent for II, 51.83 percent for DI, 23.78 percent for DD, 0.503 for I allele and 0.497 for D allele. Conclusion : In this study, ACE gene polymorphism was detected in the neonatal hyperbilirubinemia and control group. The most frequent genotype was ID. Our results indicate that the ACE gene polymorphism is not associated with the prevalence of neonatal hyperbilirubinemia in Koreans.

• Korean Journal of Clinical Laboratory Science
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• v.56 no.1
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• pp.66-72
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• 2024

Lipid metabolic disorders are commonly encountered in clinical practice. Dyslipidemia and its prevalence rate are strongly associated with the morbidity and mortality of cardiovascular disease worldwide. We conducted a genetic analysis to determine the association between genetic polymorphisms of the ABO gene in adults middle-aged (40~69 years) with dyslipidemia in the Korean population. A total of 6,750 subjects from the Korea Association REsource (KARE) were selected for this study. Using the genetic and epidemiologic data of 4,403 dyslipidemia cases and 2,347 normal controls from the KARE, single nucleotide polymorphisms (SNPs) in ABO gene were analyzed for their genetic correlation. Eleven SNPs out of the ABO gene demonstrated a statistically significant association with dyslipidemia. Among them, rs8176707 in ABO gene statistically showed the most significant correlation with dyslipidemia (P-value=0.002, odds ratio=0.82, 95% confidence interval=0.78~0.86). The minor allele of T polymorphism within the ABO intron genetic region was associated with a decreased risk of dyslipidemia. This study uncovered a significant association between genetic polymorphism in the ABO gene and dyslipidemia. This finding suggest that ABO SNPs markers have a genetic correlation with the etiology of dyslipidemia.