ACE Gene Polymorphism in Children with Nephrotic Syndrome in the Indonesian Population

スポンサーリンク

概要

• 論文の詳細を見る

• Background: The angiotensin converting enzyme (ACE) gene carries insertion (I)and deletion (D) polymorphism within its intron 16. The presence of D-allele in theACE gene has been reported as a probable genetic risk factor for idiopathic nephroticsyndrome (INS), especially the subtype of focal segmental glomerulosclerosis (FSGS).The D-allele may be related to poor responsiveness to steroid therapy. To clarify therelationship between the D-allele and INS, we studied the prevalence of the D-allele inthe Javanese-Indonesian patients. Additionally, we also analyzed relationship betweeneach genotype and steroid sensitivity among the MCNS patients.Methods: Eighty-five Javanese-Indonesian patients under 15 years of age with INSwere enrolled in this study: 16 patients with FSGS and 69 patients with minimal changenephrotic syndrome (MCNS). As controls, 68 healthy adult Javanese-Indonesians withno history of kidney disease volunteered to participate in this study. Genotypes basedon the polymorphisms (I/D) were determined by using a PCR method. As for thesteroid responsiveness, the information of 14 out of 16 FSGS patient (87.5%) and 69 outof 69 MCNS patients (100%) was available.Results: The genotype frequencies in the FSGS patients were II 37% (6/16), ID 44%(7/16) and DD 19% (3/16), and the D-allele frequency was 41% (13/32). The genotypefrequencies in the MCNS patients were II 56% (39/69), ID 38% (26/69) and DD 6%(4/69), and the D-allele frequency was 25% (34/138). The genotype frequencies in thecontrols were II 60% (41/68), ID 31% (21/68), and DD 9% (6/68), and the D-allelefrequency was 26% (33/136). None of the FSGS patients were sensitive to steroid, whilealmost all MCNS patients (66/69) were sensitive to steroid. The genotype frequenciesamong steroid-sensitive MCNS patients were consistent with those of the controls,suggesting that there was no relationship between each genotype and steroid sensitivity.Conclusions: In the Javanese-Indonesian population, none of the comparisonsshowed any significant differences in the genotypic distribution and allelic frequenciesamong the three groups, FSGS, MCNS and controls, although D-allele tended to existmore frequently in FSGS patients than in the MCNS patients and controls. In addition,the D-allele frequency was not related to steroid sensitivity in the MCNS patients.T. H. SASONGKO et al.42INTRODUCTION

• 神戸大学の論文

著者

• 李 明鎭

  神戸大学大学院 医学系研究科 公衆衛生学分野

• 野津 寛大

  Department Pediatrics Kobe University Graduate School Of Medicine

• Matsuo M

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• サデワ アフマド・ハミム

  Department Of Public Health Kobe University Graduate School Of Medicine

• Sadewa Ahmad

  Kobe Univ. Graduate School Of Medicine

• Sadewa Ahmad

  神戸大学 大学院医学系研究科小児

• Hamim Ahmad

  Department Of Environmental Health And Safety Faculty Of Medicine Kobe University Graduate School Of

• Matsuo Masafumi

  Kobe University Graduate School Of Medicine

• AYAKI Hitoshi

  Department of Public Health, Kobe University Graduate School of Medicine

• Sasongko Teguh

  Kobe University Graduate School of Medicine

• KusumaPungky Ardani

  Gadjah Mada University School of Medicine

• Damanik Martua

  Gadjah Mada University School of Medicine

• Lee Myeong

  Kobe University Graduate School of Medicine

• Ayaki Hitoshi

  Kobe University Graduate School of Medicine

• Nozu Kandai

  Kobe University School of Medicine

• Goto Akinobu

  Kobe University School of Medicine

• Nishio Hisahide

  Kobe University Graduate School of Medicine

• Nishio Hisahide

  Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University

• Nishio Hisahide

  Department Of Pubic Health And Genetic Epidemiology Kobe University Graduate School Of Medicine

• Lee Myeong

  神戸大学 医学研究科遺伝疫学

• Ayaki H

  Department Of Public Health Kobe University Graduate School Of Medicine

• Nishio H

  Department Of Public Health Kobe University Graduate School Of Medicine

• Mizutori Masakazu

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• Lee Myeong　jin

  Department Of Public Health Kobe University Graduate School Of Medicine

• サソンコ T.

  マレーシア

• Matsuo Masafumi

  Kobe Univ. Graduate School Of Medicine Kobe Jpn

関連論文

• Novel Mutations in 21 Patients with Tuberous Sclerosis Complex and Variation of Tandem Splice-acceptor Sites in TSC1 exon 14
• ベトナム人脊髄性筋萎縮症患者におけるSMN2遺伝子量ならびにNAIP遺伝子量について
• Clinical Types, Molecular Genetic Diagnosis & Genetic : clinical Correlation in Patients with Spinal Muscular Atrophy
• Deletion of the SMN1 and NAIP Genes in Vietnamese Patients with Spinal Muscular Atrophy
• Molecular Genetic Analyses of Five Vietnamese Patients with Spinal Musucular Atrophy
• カドミウム暴露によるホメオボックス遺伝子の発現変動
• 全国調査における典型的溶血性尿毒症症候群の重症化因子の検討
• Association of Cumulative Cyclosporine Dose with Its Irreversible Nephrotoxicity in Japanese Patients with Pediatric-Onset Autoimmune Diseases(Biopharmacy)
• 志賀毒素を介さず発症した溶血性尿毒症症候群5症例の予後と腎組織像に関する検討
• A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism
• 小児SLE患者に対する高用量ミゾリビン投与の試み
• Prediction of systemic exposure to cyclosporine in Japanese pediatric patients
• Rituximab treatment for posttransplant lymphoproliferative disorder (PTLD) induces complete remission of recurrent nephrotic syndrome
• The effect of aldosterone blockade in patients with Alport syndrome
• Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation
• イタイイタイ病認定患者・要観察者のエストロゲン受容体遺伝子の多型性
• Molecular Diagnosis, Correlation of Clinical and Deletion Data in Duchenne Muscular Dystrophy
• Complementation Group Analysis of Four Chinese Xeroderma Pigmentosum Patients
• Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma
• Effects of Polymorphisms of MDR1, MRP1, and MRP2 Genes on Their mRNA Expression Levels in Duodenal Enterocytes of Healthy Japanese Subjects(Biopharmacy)
• The C677T Mutation in the Methylenetetrahydrofolate Reductase Gene among the Indonesian Javanese Population
• HnRNP C1/C2 May Regulate Exon 7 Splicing in the Spinal Muscular Atrophy Gene SMN1
• 良性家族性新生児痙攣を有する日本人一家系内の生殖細胞に生じたKCNQ2遺伝子変異(p. R213W)
• A Strong Exonic Splicing Enhancer in Dystrophin Exon 19 Achieve Proper Splicing Without an Upstream Polypyrimidine Tract
• Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy
• Ureaplasma urealyticum and Mycoplasma hominis Presence in Umbilical Cord is Associated with Pathogenesis of Funisitis
• Mutation Analysis of the Ornithine Transcarbamylase (OTC) Gene in Five Japanese OTC Deficiency Patients Revealed Two Known and Three Novel Mutations Including a Deep Intronic Mutation
• Mosaic Tetrasomy 9p Case with the Phenotype Mimicking Klinefelter Syndrome and Hyporesponse of Gonadotropin-Stimulated Testosterone Production
• 日本人のSMN1遺伝子上にC117T多型を見出した
• Quantification of lysophosphatidylcholines and phosphatidylcholines using liquid chromatography-tandem mass spectrometry in neonatal serum
• Evaluation of mutation effects on UGT1A1 activity toward 17β-estradiol using liquid chromatography-tandem mass spectrometry
• Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase Deficiency in Vietnam
• Nobel cryptic exons identified in introns 2 and 3 of the human dystrophin gene with duplication of exons 8-11
• Prenatal diagnosis of a Japanese family at risk for tay-sachs disease : application of a fluorescent competitive allele-specific polymerase chain reaction (pcr) method
• タイ国のGilbert症候群患者姉妹のUGT1A1遺伝子に認められた新しいミスセンス異変
• Screening for G71R mutation of the UGT1A1 gene in the Javanese-Indonesian and Malay-Malaysian populations
• インドネシア東ジャワ地方の前頭骨篩骨脳瘤患者にMTHFR遺伝子のC677T変異は認められなかった
• The C677T Mutation in the Methylenetetrahydrofolate Reductase Gene among the Indonesian Javanese Population
• ACE Gene Polymorphism in Children with Nephrotic Syndrome in the Indonesian Population
• Spectrum of Spontaneous Mutations in the Cyclic AMP Receptor Protein Gene on Chromosomal DNA of Escherichia coli
• Double fetus-in-fetu : A case report with three-dimensional computed tomography findings
• Comparative research on epidemiological aspects of tsutsugamushi disease (scrub typhus) between Korea and Japan
• evidence-based practice guideline for the treatment of chronic kidney disease
• Comparative study on deletions of the dystrophin gene in three Asian populations
• Screening for glucose-6-phosphate dehydrogenase deficiency using a modified formazan method : A pilot study on Filipino male newborns
• Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase Deficiency in Malays in Malaysia
• 3冬季にわたる、インフルエンザウイルス上気道感染症(FLU-URTI)流行時におけるRSV下気道感染症(RSV-LRTI)患者の臨床的重症度の検討
• A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5
• Gly71Arg mutation of the bilirubin UDP-glucuronosyltransferase 1A1 gene is associated with neonatal hyperbilirubinemia in the Japanese population
• Molecular genetics of spinal muscular atrophy : contribution of the NAIP gene to clinical severity
• Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient
• Purine-rich exon sequences are not necessarily splicing enhancer sequence in the dystrophin gene
• Vascular involvement in benign infantile mitochondrial myopathy caused by reversible cytochrobe c oxidase dificiency
• Severe neonatal nemaline myopathy with delayed maturation of muscle
• P1024 ホルムアルデヒド暴露細胞における遺伝子発現変化の解析(一般演題:ポスター,地方の時代の産業保健,第79回日本産業衛生学会)
• 歯状核赤核淡蒼球ルイ体萎縮症の1 家系におけるDRPLA遺伝子のCAGリピートの解析-発症前診断の経験-
• A COMMON MUTATION IN METHYLENETETRAHYDROFOLATE REDUCTASE GENE AMONG THE JAPANESE POPULATION
• Poor correlation between hemolysis and jaundice in glucose 6-phosphate dehydrogenase-deficient babies
• Recovery from Ultraviolet Light-Induced Depression of Ribosomal RNA Synthesis in Normal Human, Xeroderma Pigmentosum and Cockayne Syndrome Cells
• Recovery of RNA Synthesis Coupled with In Vitro Repair of UV Damage in Plasmid DNA
• Recovery from UV-induced initial depression of ribosomal RNA synthesis in normal and xeroderma piginentosum group A cells
• In Vitro Repair System using Human cell Extracts
• Docosahexaenoic Acid Ethyl Ester and its Ultraviolet Degradation Products Showed DNA-Breaking Activity in Vitro and Cytotoxic Effects on the HSC-4 Cell Line
• The C677T mutation in the methylene tetrahydrofolate reductase gene increases serum uric acid in elderly men
• PDGF-alpha Receptor Expression Following Hypoxic-Ischemic Injury in the Neonatal Rat Brain
• Spectrum of Spontaneous Mutation of E. Ccli Crp Gene
• 27.カドミウム曝露により発現が増加するストレス蛋白mRNAの検出(第41回近畿産業衛生学会)
• カドミウムの腎及び骨に対する毒性のメカニズムに関する研究 (平成12年度 カドミウムの健康影響に関する研究) -- (カドミウムの腎及び骨に対する毒性のメカニズムに関する研究)
• カドミウムの腎及び骨に対する毒性のメカニズムに関する研究 (カドミウムの健康影響に関する研究) -- (カドミウムの腎及び骨に対する毒性のメカニズムに関する研究)
• C677t mutation of the methylenetetrahydrofolate reductase gene among the Korean infants in Seoul city
• カドミウムの腎及び骨に対する毒性のメカニズムに関する研究 (カドミウムの健康影響に関する研究) -- (カドミウムの腎及び骨に対する毒性のメカニズムに関する研究)
• カドミウムの尿細管細胞と骨芽細胞への影響 (カドミウムの健康影響に関する研究) -- (イタイイタイ病に関する研究)
• Intraperitoneal administration of phosphorothioate antisense oligodeoxynucleotide against splicing enhancer sequence induced exon skipping in dystrophin mRNA expressed in mdx skeletal muscle
• Molecular Analysis of TSC2/PKD1 Contiguous Gene Deletion Syndrome
• Antigenicity and irritancy tests of leukocyte-reduction filters using animal models
• Molecular genetic analysis and mutation screening of the vhl gene in a Japanese family with von hippel-lindau disease
• Cardiac Involvement in a Family with Becker Muscular Dystrophy.
• Evaluation of mutation effects on UGT1A1 activity toward 17β-estradiol using liquid chromatography–tandem mass spectrometry
• Herbal Medicine Containing Licorice May Be Contraindicated for a Patient with an HSD11B2 Mutation
• SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy
• The first Japanese familial sotos syndrome with a novel mutation of the NSD1 gene
• A Homozygous Mutation in UGT1A1 Exon 5 May Be Responsible for Persistent Hyperbilirubinemia in a Japanese Girl with Gilbert’s Syndrome
• Persistent detection of a novel MLL-SACM1L rearrangement in the absence of leukemia
• Severe Alport syndrome in a young woman caused by a t(X;1)(q22.3;p36.32) balanced translocation
• Ligand orientation governs conjugation capacity of UDP-glucuronosyltransferase 1A1
• Screening of the LIX1 gene in Japanese and Malaysian patients with SMA and/or SMA-like disorder
• Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy
• バルプロ酸誘発高アンモニア血症に対するCPS1 4217C>A遺伝子多型の影響
• Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy
• 先天性全身性脂肪萎縮症の2乳児例
• A surviving case of papillorenal syndrome with the phenotype of Potter sequence
• Epigallocatechin gallate inhibits sphere formation of neuroblastoma BE(2)-C cells
• Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA
• Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
• Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene
• A Retrospective Study of the Extensive Eradication Program for Brucellosis Outbreaks and Control in Korea, 2002–2009
• Prediction of systemic exposure to cyclosporine in Japanese pediatric patients
• HnRNP C1/C2 May Regulate Exon 7 Splicing in the Spinal Muscular Atrophy Gene SMN1
• Novel Mutations in 21 Patients with Tuberous Sclerosis Complex and Variation of Tandem Splice-acceptor Sites in TSC1 exon 14
• Nonsense Mutations of the ZFHX1B Gene in Two Japanese Girls with Mowat-Wilson Syndrome

もっと見る 閉じる

スポンサーリンク