1.Polymorphism in the promoter region of the klotho gene (G-395A) is associated with early dysfunction in vascular access in hemodialysis patients.
Youngsu KIM ; Sun Joo JEONG ; Hyung Suk LEE ; Eun Jung KIM ; Young Rim SONG ; Sung Gyun KIM ; Ji Eun OH ; Young Ki LEE ; Jang Won SEO ; Jong Woo YOON ; Ja Ryong KOO ; Hyung Jik KIM ; Jung Woo NOH ; Seung Ho PARK
The Korean Journal of Internal Medicine 2008;23(4):201-207
BACKGROUND/AIMS: Vascular access dysfunction is an important cause of morbidity and mortality in hemodialysis (HD) patients. Recent studies have shown that a klotho gene mutation is related to endothelial dysfunction, thrombosis, and arteriosclerosis, which are regarded as causes of vascular access dysfunction. We investigated the relationship between the klotho G-395A polymorphism and early dysfunction in vascular access in HD patients. METHODS: Patients who underwent vascular access operations between 1999 and 2002 were enrolled (n=126). Genotyping was performed by allelic discrimination using a 5'-nuclease polymerase chain reaction assay. Clinical data that could be relevant to access dysfunction were obtained from medical records. Early dysfunction of vascular access was defined as the need for any angioplastic or surgical intervention to correct or replace a poorly or nonfunctioning vascular access within 1 year and at least 8 weeks after initial access placement. RESULTS: Of the 126 patients, the genotype frequency of G-395A was 72.2% for GG (n=91), 24.6% for GA (n=31), and 3.2% for AA (n=4), and the frequency of minor allele was 0.155. Clinical data were similar between the two groups, divided according to the status of the A allele. Early dysfunction occurred in 34 (27.0%) of patients, but it occurred at a significantly higher rate in A allele carriers (45.7%, 16/35) than in noncarriers (19.8%, 18/91; p=0.003). CONCLUSIONS: Our results suggest that the klotho G-395A polymorphism could be a risk factor for early dysfunction of vascular access in HD patients.
Aged
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*Arteriovenous Shunt, Surgical
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Catheters, Indwelling
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Cohort Studies
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Female
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Glucuronidase/*genetics
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Humans
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Kidney Failure, Chronic/complications/*genetics/therapy
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Male
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Middle Aged
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Polymorphism, Genetic/*genetics
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Promoter Regions, Genetic/genetics
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*Renal Dialysis
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Vascular Diseases/complications/genetics
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Vascular Patency/*genetics
2.Congenital nephrogenic diabetes insipidus with end-stage renal disease.
Hyun Ho RYU ; Jong Hoon CHUNG ; Byung Chul SHIN ; Hyun Lee KIM
The Korean Journal of Internal Medicine 2015;30(2):259-261
No abstract available.
Adult
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DNA Mutational Analysis
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Diabetes Insipidus, Nephrogenic/*complications/diagnosis/genetics/therapy
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Disease Progression
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Genetic Predisposition to Disease
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Humans
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Kidney Failure, Chronic/diagnosis/*etiology
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Male
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Mutation
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Phenotype
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Receptors, Vasopressin/genetics
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Renal Dialysis
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Tomography, X-Ray Computed
3.Angiotensin-converting enzyme inhibitor versus angiotensin 2 receptor antagonist therapy and the influence of angiotensin-converting enzyme gene polymorphism in IgA nephritis.
Keng-Thye WOO ; Yeow-Kok LAU ; Choong-Meng CHAN ; Kok-Seng WONG
Annals of the Academy of Medicine, Singapore 2008;37(5):372-376
INTRODUCTIONIn this study of 109 patients with IgA nephritis (IgAN), we compared the longterm effects on patients treated with angiotensin converting enzyme inhibitor (ACEI) or angiotensin receptor antagonist (ATRA) alone with respect to renal outcome in terms of ESRF from 1995 to 2006. The renal outcome is also correlated with the ACE gene ID polymorphism to study its influence on response to ACEI/ATRA therapy.
MATERIALS AND METHODSSeventy-seven patients were on treatment with ACEI/ATRA (22 on ACEI alone, 47 on ATRA alone and 8 on both). The other 32 patients were on no treatment (control group).
RESULTSCompared to controls, treated patients had lower serum creatinine (P <0.001), lower proteinuria (P <0.001) and fewer number progressing to ESRF (P <0.001). For those with the II and ID genotype there were significantly fewer patients with ESRF in the treatment group. With the DD genotype, treatment did not change the poor renal outcome with regard to ESRF. Patients on ACEI therapy had a higher incidence of ESRF compared to those on ATRA (P <0.001). For the control group, the projected number of years-to-ESRF was 10 years. For those on ACEI therapy it was 11 years, and for those on ATRA therapy it was 24 years. Among patients with the II genotype, those treated with ATRA had significantly less incidence of ESRF compared to those treated with ACEI (P <0.001).
CONCLUSIONATRA therapy was found to be effective in retarding disease progression to ESRF in IgAN compared to ACEI therapy. Genotyping showed better response to ATRA therapy only for those with the II genotype.
Adult ; Angiotensin II Type 1 Receptor Blockers ; therapeutic use ; Angiotensin-Converting Enzyme Inhibitors ; therapeutic use ; Case-Control Studies ; Disease Progression ; Female ; Genetic Predisposition to Disease ; genetics ; Glomerulonephritis, IGA ; complications ; drug therapy ; genetics ; Humans ; Hypertension ; complications ; drug therapy ; Kidney Failure, Chronic ; etiology ; Male ; Peptidyl-Dipeptidase A ; genetics ; Polymorphism, Genetic ; genetics ; Retrospective Studies