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Alpha-Adducin Gly460Trp Polymorphism and Essential Hypertension in Korea

Shin MH, Chung EK, Kim HN, Park KS, Nam HS, Kweon SS, Choi JS

Previous studies have suggested that the Gly460Trp polymorphism of the alpha-adducin gene (ADD-1) is associated with salt sensitivity and primary hypertension. The results of linkage or association studies of ADD-1...
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A Polymorphism of the Renin Gene rs6682082 Is Associated with Essential Hypertension Risk and Blood Pressure Levels in Korean Women

Park J, Song K, Jang Y, Kim Yoon S

PURPOSE: The aim of the present study was to investigate associations between the renin gene (REN) and the risk of essential hypertension and blood pressure (BP) levels in Koreans. MATERIALS AND...
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Analysis of the variations in IL-28RA gene and their association with allergic rhinitis

Chae SC, Park YR, Li CS, Lee JH, Yang YS, Zhang Q, Kim KS, Chung HT

  • KMID: 1094156
  • Exp Mol Med.
  • 2006 Jun;38(3):302-309.
IL-28RA is one of the important candidate genes for complex trait of genetic diseases, but there is no published information of the genetic variation in this gene. We scanned the...
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Association of the Single-Nucleotide Polymorphism and Haplotype of the Complement Receptor 1 Gene with Malaria

Lan Y, Wei CD, Chen WC, Wang JL, Wang CF, Pan GG, Wei YS, Nong LG

PURPOSE: Although the polymorphisms of erythrocyte complement receptor type 1 (CR1) in patients with malaria have been extensively studied, a question of whether the polymorphisms of CR1 are associated with...
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Associations between Single Nucleotide Polymorphisms of High Mobility Group Box 1 Protein and Clinical Outcomes in Korean Sepsis Patients

Lee K, Chang Y, Song K, Park YY, Huh JW, Hong SB, Lim CM, Koh Y

PURPOSE: High mobility group box 1 (HMGB1) plays a central role in the pathogenesis of sepsis and multiple organ dysfunction syndromes. We investigated the associations of a single nucleotide polymorphism...
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Association between excision repair cross-complementation group 1 polymorphism and clinical outcome of platinum-based chemotherapy in patients with epithelial ovarian cancer

Kang S, Ju W, Kim JW, Park NH, Song YS, Kim SC, Park SY, Kang SB, Lee HP

  • KMID: 1094158
  • Exp Mol Med.
  • 2006 Jun;38(3):320-324.
ERCC1 is a DNA repair gene and has been associated with resistance to DNA damaging agents. In this study we hypothesized that a polymorphism of ERCC1 Asn118Asn (C->T) might affect...
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Association of transforming growth factor-b1 gene polymorphisms with a hepatocellular carcinoma risk in patients with chronic hepatitis B virus infection

Kim YJ, Lee HS, Im JP, Min BH, Kim HD, Jeong JB, Yoon JH, Kim CY, Kim MS, Kim JY, Jung JH, Kim LH, Park BL, Shin HD

  • KMID: 1094701
  • Exp Mol Med.
  • 2003 Jun;35(3):196-202.
Transforming growth factor-b1 (TGF-beta 1) can act as both a tumor suppressor and a stimulator of tumor progression. We have examined the relationship between polymorphisms of the TGF-beta 1 gene...
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Molecular variations in Th1-specific cell surface gene Tim-3

Chae SC, Song JH, Pounsambath P, Yuan HY, Lee JH, Kim JJ, Lee YC, Chung HT

  • KMID: 1097110
  • Exp Mol Med.
  • 2004 Jun;36(3):274-278.
The family of T-cell immunoglobulin domain and mucin domain (TIM) proteins is identified to be expressed on T cells. A member of Tim family, Tim-3 (T cell immunoglobulin mucin 3)...
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KISS1 Gene Polymorphisms in Korean Girls with Central Precocious Puberty

Rhie YJ, Lee KH, Ko JM, Lee WJ, Kim JH, Kim HS

Kisspeptin/G-protein couple receptor-54 (GPR54) system plays a key role in the activation of the gonadotropic axis at puberty. Central precocious puberty (CPP) is caused by the premature activation of hypothalamic...
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TERT Polymorphism rs2853669 Influences on Lung Cancer Risk in the Korean Population

Yoo SS, Do SK, Choi JE, Lee SY, Lee J, Cha SI, Kim CH, Park JY

Short telomeres are known as one of the risk factors for human cancers. The present study was conducted to evaluate the association between 6 polymorphisms, which were related with short...
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The IL-1B Genetic Polymorphism Is Associated with Aspirin-Induced Peptic Ulcers in a Korean Ethnic Group

Cho JH, Choi JS, Chun SW, Lee S, Han KJ, Kim HM

BACKGROUND/AIMS: Single nucleotide polymorphisms (SNPs) are associated with aspirin-induced peptic ulcers. However, SNPs of specific genes vary among races, and data regarding SNPs in the Korean population are scarce. In...
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ITPKC and SLC11A1 Gene Polymorphisms and Gene-Gene Interactions in Korean Patients with Kawasaki Disease

Kim KY, Bae YS, Ji W, Shin D, Kim HS, Kim DS

PURPOSE: Kawasaki disease (KD) is an acute systemic vasculitis. Both the etiology of KD and the erythema of Bacille Calmette-Guérin (BCG) injection sites observed in the disease are poorly understood....
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A Novel Association between Lysyl Oxidase Gene Polymorphism and Intracranial Aneurysm in Koreans

Hong EP, Jeon JP, Kim SE, Yang JS, Choi HJ, Kang SH, Cho YJ

PURPOSE: Lysyl oxidase (LOX) controls the cross-linking and maturation of elastin and collagen fibers. In this study, we investigated the association between LOX gene polymorphisms and intracranial aneurysm (IA) formation...
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Gender-Specific Associations between CHGB Genetic Variants and Schizophrenia in a Korean Population

Shin JG, Kim JH, Park CS, Kim BJ, Kim JW, Choi IG, Hwang J, Shin HD, Woo SI

PURPOSE: Schizophrenia is a devastating mental disorder and is known to be affected by genetic factors. The chromogranin B (CHGB), a member of the chromogranin gene family, has been proposed...
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A genetic effect of IL-5 receptor alpha polymorphism in patients with aspirin-exacerbated respiratory disease

Losol P, Kim SH, Shin YS, Ye YM, Park HS

  • KMID: 2154233
  • Exp Mol Med.
  • 2013 Mar;45(3):e14.
Persistent eosinophil activation in both the upper and lower airway mucosa is a central feature of aspirin-exacerbated respiratory disease (AERD). Eosinophil activation and survival are profoundly influenced by interleukin 5...
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eNOS3 Genetic Polymorphism Is Related to Post-Ablation Early Recurrence of Atrial Fibrillation

Shim J, Park JH, Lee JY, Uhm JS, Joung B, Lee MH, Ellinor PT, Pak HN

PURPOSE: Previous studies have demonstrated an association between eNOS polymorphisms and atrial fibrillation (AF). We sought to determine whether eNOS polymorphisms are associated with AF recurrence after a radiofrequency catheter...
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Common variants at the promoter region of the APOM confer a risk of rheumatoid arthritis

Hu HJ, Jin EH, Yim SH, Yang SY, Jung SH, Shin SH, Kim WU, Shim SC, Kim TG, Chung YJ

Although the genetic component in the etiology of rheumatoid arthritis (RA) has been consistently suggested, many novel genetic loci remain to uncover. To identify RA risk loci, we performed a...
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Differential Parental Transmission of Markers in BCL3 among Korean Cleft Case-parent Trios

Park BY, Sull JW, Park JY, Jee SH, Beaty TH

OBJECTIVES: Isolated cleft lip with or without cleft palate (CL/P) is among the most common human birth defects, with a prevalence of approximately 1 in 700 live births. The B-Cell...
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Age-dependent dichotomous effect of superoxide dismutase Ala16Val polymorphism on oxidized LDL levels

Dedoussis , Kanoni S, Panagiotakos DB, Louizou E, Grigoriou , Chrysohoou C, Pitsavos C, Stefanadis C

We investigated the association between superoxide dismutase (SOD) Ala16Val polymorphism and the levels of oxidized LDL lipoprotein-C (ox-LDL-C) in two age-different Greek cohorts. Four hundred fifteen middle-aged (n=147 females: 43.2+/-13...
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Comprehensive Variant Screening of the UGT Gene Family

Kim JY, Cheong HS, Park BL, Kim LH, Namgoong S, Kim JO, Kim HD, Kim YH, Chung MW, Han SY, Shin HD

PURPOSE: UGT1A1, UGT2B7, and UGT2B15 are well-known pharmacogenes that belong to the uridine diphosphate glucuronyltransferase gene family. For personalized drug treatment, it is important to study differences in the frequency...
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