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Systematic screening for the genes regulating lipid metabolism : cohorts of childhood and adulthood

Research Project

Project/Area Number 21591325
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionKyushu University

Principal Investigator

IHARA Kenji  九州大学, 大学病院, 准教授 (80294932)

Co-Investigator(Kenkyū-buntansha) ISHII Kanako  九州大学, 大学病院, 特任講師 (90400332)
Project Period (FY) 2009 – 2011
Project Status Completed (Fiscal Year 2011)
Budget Amount *help
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2011: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2010: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2009: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Keywords脂質代謝 / 遺伝子多型 / 成長ホルモン / 内分泌
Research Abstract

BACKGROUND AND AIMS :
GH plays a significant role in the lipid metabolism. In this study, we focused on the JAK2-signal transducer and activator of the transcription 5(STAT5) pathway, which transmit the signals from the GH receptor, and selected the STAT5A/B gene as a candidate for the regulation of lipid metabolism in GH deficiency(GHD).
DESIGN AND PARTICIPANTS :
The study population comprised 83 children with idiopathic GHD. The serum total cholesterol(TC), high-density lipoprotein cholesterol(HDL-C) and the non-HDL cholesterol(non-HDL-C) levels were monitored before and at 3, 6, 9 and 12 months after starting GH treatment. The height, weight, body mass index, and serum insulin-like growth factor-I(IGF-I) level were also measured before and 12 months after starting the GH treatment. For the genetic analysis of the STAT5A/B gene, five tag SNPs were selected using the tag SNP picker programme on the homepage of the HapMap project. The evaluation of promoter activity of the-44816A/G SNP in the STAT5B gene was performed by a luciferase assay in vitro.
RESULTS:
The TC and non-HDL-C levels were gradually decreased during the GH treatment. Five tag SNPs (rs4029774, rs6503691, rs9900213, rs16967637 and rs2272087) were picked up for the STAT5A/B gene, and the genetic study demonstrated that the paediatric GHD patients who were heterozygotes or homozygotes of minor alleles of the analysed SNPs in the same block of the STAT5B gene showed significantly higher serum TC or non-HDL-C levels both before and after GH treatment for 12 months. Most of the SNPs also demonstrated significant differences among genotypes in the decreases in serum TC or non-HDL-C levels during the 12 months of GH treatment. A luciferase assay showed that the -44816A/G SNP (rs4029774) in the STAT5B gene functionally affected the expression level in vitro.
CONCLUSION:
These results indicate that STAT5B may therefore play a role in regulating the cholesterol metabolism in children with GHD.

Report

(4 results)
  • 2011 Annual Research Report   Final Research Report ( PDF )
  • 2010 Annual Research Report
  • 2009 Annual Research Report
  • Research Products

    (47 results)

All 2012 2011 2010 2009 Other

All Journal Article (22 results) (of which Peer Reviewed: 14 results) Presentation (18 results) Book (7 results)

  • [Journal Article] HLA-Class II and Class I Genotypes among Japanese Children with Type 1A Diabetes and Their Families2012

    • Author(s)
      Sugihara S, Ihara K, 他37名
    • Journal Title

      Pediatr Diabetes

      Volume: 13(1) Pages: 33-44

    • Related Report
      2011 Final Research Report
  • [Journal Article] Tracheal aspirate gene expression of preterm newborns developing bronchopulmonary dysplasia2012

    • Author(s)
      Hikino S, Ohga S T, Kinjo T, Kusuda T, Ochiai M, Inoue H, Honjo S, Ihara K
    • Journal Title

      Pediatr Int.

      Volume: 54(2) Issue: 2 Pages: 208-14

    • DOI

      10.1111/j.1442-200x.2011.03510.x

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Histo-blood group gene polymorphisms as potential genetic modifiers of the development of coronary artery lesions in patients with Kawasaki disease2012

    • Author(s)
      Yamamura K, Ihara K, Ikeda K, Nagata H, Mizuno Y, Hara T
    • Journal Title

      Int J Immunogenet

      Volume: 39(2) Issue: 2 Pages: 119-25

    • DOI

      10.1111/j.1744-313x.2011.01065.x

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] HLA-class II and class I genotypes among Japanese children with Type 1A diabetes and their families2012

    • Author(s)
      Sugihara S
    • Journal Title

      Pediatric Diabetes

      Volume: 13 Issue: 1 Pages: 33

    • DOI

      10.1111/j.1399-5448.2011.00833.x

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The signal transducer and activator of transcription 5B gene polymorphism contributes to the cholesterol metabolism in Japanese children with growth hormone deficiency2011

    • Author(s)
      Makimura M, Ihara K, Kojima-Ishii K, Nozaki T, Ohkubo K, Kohno H, Kishimoto J, Hara T
    • Journal Title

      Clin Endocrinol

      Volume: 74(5) Issue: 5 Pages: 611-7

    • DOI

      10.1111/j.1365-2265.2011.03980.x

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Serum chemokine levels and developmental outcome in preterm infants2011

    • Author(s)
      Kinjo T, Ohga S, Ochiai M, Honjo S, Tanaka T, Takahata Y, Ihara K, Hara T
    • Journal Title

      Early Hum Dev

      Volume: 87(6) Pages: 439-43

    • Related Report
      2011 Final Research Report
  • [Journal Article] HRAS mutants identified in Costello syndrome patients can induce cellular senescence possible implications for the pathogenesis of Costello syndrome2011

    • Author(s)
      Niihori T, Ihara K, 他22名
    • Journal Title

      Hum Genet

      Volume: 56(10) Issue: 10 Pages: 707-15

    • DOI

      10.1038/jhg.2011.85

    • NAID

      10030661239

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Biotin deficiency in a glycogen storage disease type 1b girl fed only with GSD formula2011

    • Author(s)
      Ihara K, Abe K, Hayakawa K, Makimura M, Kojima-Ishii K, Hara T
    • Journal Title

      Pediatr Dermatol

      Volume: 28(3) Issue: 3 Pages: 339-41

    • DOI

      10.1111/j.1525-1470.2011.01238.x

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Genetic contribution of vascular endothelial growth factor pathway to the severity of retinopathy of prematurity2011

    • Author(s)
      Kusuda T, Hikino S, Ohga S, Kinjo T, Ochiai M, Takahata Y, Tokunaga S, Ihara K, Hata Y, Hara T
    • Journal Title

      J Perinatol

      Volume: 31(4) Pages: 246-50

    • Related Report
      2011 Final Research Report
  • [Journal Article] Serum chemokine levels and developmental outcome in preterm infants2011

    • Author(s)
      Kinjo T, Ohga S, Ochiai M, Honjo S, Tanaka T, Takahata Y, Ihara K, Hara T
    • Journal Title

      Early Human Development

      Volume: 87(6) Pages: 439-443

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Congenital multiple pituitary hormone deficiency associated with hyperammonemia : A case report with a short review of the literature2011

    • Author(s)
      Inoue H, et al.
    • Journal Title

      J Perinatol

      Volume: 31 Pages: 146-8

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations2010

    • Author(s)
      Numata S, Koda Y, Ihara K, Sawada T, Okano Y, Matsuura T, Endo F, Yoo HW, Arranz JA, Rubio V, Wermuth B, Ah Mew N, Tuchman M, Pinner JR, Kirk EP, Yoshino M
    • Journal Title

      J Hum Genet

      Volume: 55 Pages: 18-22

    • NAID

      10030733102

    • Related Report
      2011 Final Research Report
  • [Journal Article] PD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitis2010

    • Author(s)
      Ishizaki Y, Yukaya N, Kusuhara K, Kira R, Torisu H, Ihara K, Sakai Y, Sanefuji M, Pipo-Deveza JR, Silao CL, Sanchez BC, Lukban MB, Salonga AM, Hara T
    • Journal Title

      Hum Genet

      Volume: 127(4) Pages: 411-9

    • Related Report
      2011 Final Research Report
  • [Journal Article] The Met67Val substitution in the ATF6 gene contributes to serum non HDL cholesterol levels in Japanese children with growth hormone deficiency.2010

    • Author(s)
      Makimura M, et al.
    • Journal Title

      Arterioscler Thromb Vasc Biol.

      Volume: 25 August

    • Related Report
      2010 Annual Research Report
  • [Journal Article] Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.2010

    • Author(s)
      Numata S, et al.
    • Journal Title

      J Hum Genet.

      Volume: 55 Pages: 18-22

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] PD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitis2010

    • Author(s)
      Ishizaki Y, et al.
    • Journal Title

      Hum Genet.

      Volume: (印刷中)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Genetic contribution of vascular endothelial growth factor pathway to the severity of retinopathy of prematurity2010

    • Author(s)
      Kusuda T, et al.
    • Journal Title

      J Perinatol

      Volume: (印刷中)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations2010

    • Author(s)
      Numata S, Koda Y, Ihara K, et al.
    • Journal Title

      J Hum Genet 55

      Pages: 18-22

    • NAID

      10030733102

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Association study between B-and T-lymphocyte attenuator gene and type 1 diabetes mellitus or systemic lupus erythematosus in the Japanese population2009

    • Author(s)
      Inuo M, Ihara K, Matsuo T, Kohno H, Hara T
    • Journal Title

      Int J Immunogenet

      Volume: 36(1) Pages: 65-8

    • Related Report
      2011 Final Research Report
  • [Journal Article] Lack of association between E148Q MEFV variant and Kawasaki disease2009

    • Author(s)
      Yamaguchi K, Ikeda K, Ihara K, Takada H, Kusuhara K, Hara T
    • Journal Title

      Hum Immunol

      Volume: 70(6) Pages: 468-71

    • Related Report
      2011 Final Research Report
  • [Journal Article] Association study between B- and T-lymphocyte attenuator gene and type 1 diabetes mellitus or systemic lupus erythematosus in the Japanese population2009

    • Author(s)
      Inuo M, Ihara K, et al.
    • Journal Title

      Int J Immunogenet 36(1)

      Pages: 65-8

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Lack of association between E148Q MEFV variant and Kawasaki disease2009

    • Author(s)
      Yamaguchi K, Ihara K, et al.
    • Journal Title

      Hum Immunol 70

      Pages: 468-471

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Presentation] Growth hormone receptor and STAT5B genes contribute to lipid metabolism in the children with growth hormone deficiency2011

    • Author(s)
      Ihara K, Makimura M, Kohno H, Hara T.
    • Organizer
      The 7th Congress of Asian Society for Pediatric Research
    • Place of Presentation
      Denver, USA
    • Year and Date
      2011-05-30
    • Related Report
      2011 Annual Research Report 2011 Final Research Report
  • [Presentation] Histo-blood group gene polymorphisms as potential genetic modifiers of the development of coronary artery lesions in patients with Kawasaki disease2011

    • Author(s)
      Yamamura K, Ihara K, Nagata H, Ikeda K, Hara T
    • Organizer
      The 7th Congress of Asian Society for Pediatric Research
    • Place of Presentation
      Denver, USA
    • Year and Date
      2011-04-30
    • Related Report
      2011 Annual Research Report 2011 Final Research Report
  • [Presentation] 成長ホルモン分泌不全における脂質代謝に関与する遺伝的背景因子の解析:GH受容体遺伝子とシグナル伝達経路を中心に2011

    • Author(s)
      井原健二、牧村美佳、石井加奈子、大久保一宏、野崎高史、原寿郎、河野斉
    • Organizer
      第114回日本小児科学会
    • Place of Presentation
      東京
    • Related Report
      2011 Annual Research Report 2011 Final Research Report
  • [Presentation] SGA性低身長に対するGH治療による代謝内分泌学的影響の検討2011

    • Author(s)
      石井加奈子、井原健二、牧村美佳、野崎高史、大久保一宏、原寿
    • Organizer
      第114回日本小児科学会
    • Place of Presentation
      東京
    • Related Report
      2011 Annual Research Report 2011 Final Research Report
  • [Presentation] Biotin deficiency in a glycogen storage disease type 1b girl fed only with glycogen storage disease-related formula2010

    • Author(s)
      Ihara K, et al.
    • Organizer
      The 1st Asian Congress for Inherited Metabolic Diseases
    • Place of Presentation
      Fukuoka
    • Related Report
      2011 Final Research Report 2010 Annual Research Report
  • [Presentation] Recent advances in genetic susceptibility to type 1 diabetes in children. International Symposium on Pediatric Endocrinology2010

    • Author(s)
      Ihara K.
    • Organizer
      Official Satellite Symposium of The 14th International Congress of Endocrinology
    • Place of Presentation
      Tokyo
    • Related Report
      2011 Final Research Report
  • [Presentation] STAT5B gene polymorphisms contribute to the serum total cholesterol levels in Japanese children with growth hormone deficiency2010

    • Author(s)
      Makimura M, Ihara K et al.
    • Organizer
      The 6th Congress of Asian Society for Pediatric Research
    • Place of Presentation
      Taipei, Taiwan
    • Related Report
      2011 Final Research Report 2010 Annual Research Report
  • [Presentation] Biotin deficiency in a glycogen storage disease type 1b girl fed only with glycogen storage disease-related formula2010

    • Author(s)
      Ihara K, et al.
    • Organizer
      The 6th Congress of Asian Society for Pediatric Research
    • Place of Presentation
      Taipei, Taiwan
    • Related Report
      2011 Final Research Report 2010 Annual Research Report
  • [Presentation] Growth hormone receptor and STAT5B genes contribute to lipid metabolism in the children with growth hormone deficiency2010

    • Author(s)
      Ihara K.
    • Organizer
      The 7th Conference of Asian Society for Mitochondrial and Medicine
    • Place of Presentation
      Fukuoka
    • Related Report
      2011 Final Research Report 2010 Annual Research Report
  • [Presentation] JAK2-STAT5経路にかかわる遺伝子群は日本人小児GHD児における血清コレステロール値を規定する遺伝的背景因子である2010

    • Author(s)
      牧村美佳、井原健二ほか7名
    • Organizer
      第113回日本小児科学会
    • Place of Presentation
      盛岡
    • Related Report
      2011 Final Research Report 2010 Annual Research Report
  • [Presentation] ATF6遺伝子Met67Val多型は小児GHD患児のnon HDLコレステロール値に関与する2010

    • Author(s)
      牧村美佳、井原健二ほか6名
    • Organizer
      第44回日本小児内分泌学会学術集会
    • Place of Presentation
      大阪
    • Related Report
      2011 Final Research Report 2010 Annual Research Report
  • [Presentation] SGA性低身長に対するGH治療による代謝内分泌学的影響の検討2010

    • Author(s)
      石井加奈子、井原健二ほか6名
    • Organizer
      第44回日本小児内分泌学会学術集会
    • Place of Presentation
      大阪
    • Related Report
      2011 Final Research Report 2010 Annual Research Report
  • [Presentation] Recent advances in genetic susceptibility to type 1 diabetes in children2010

    • Author(s)
      Ihara K
    • Organizer
      International Symposium on Pediatric Endocrinology : Official Satellite Symposium of The 14th International Congress of Endocrinology
    • Place of Presentation
      Tokyo
    • Related Report
      2010 Annual Research Report
  • [Presentation] JAK2-STAT5経路にかかわる遺伝子群は日本人小児GHD児における血清コレステロール値を規定する遺伝的背景因子である2009

    • Author(s)
      牧村美佳、井原健二ほか7名
    • Organizer
      第43回日本小児内分泌学会
    • Place of Presentation
      宇都宮
    • Related Report
      2011 Final Research Report 2009 Annual Research Report
  • [Presentation] 成長ホルモン治療反応性を規定する遺伝子の探求~脂質代謝系を中心に2009

    • Author(s)
      井原健二
    • Organizer
      第23回日本脂質代謝研究会
    • Place of Presentation
      福岡
    • Related Report
      2011 Final Research Report 2009 Annual Research Report
  • [Presentation] 新生児期ガラクトース血症で発見される先天性シトリン欠損症と先天性門脈大循環短絡症の血漿アミノ酸の比較2009

    • Author(s)
      井原健二ほか4名
    • Organizer
      第51回日本先天代謝異常学会
    • Place of Presentation
      東京
    • Related Report
      2011 Final Research Report
  • [Presentation] JAK2-STAT5経路にかかわる遺伝子群は日本人小児GHD児における血清コレステロール値を規定する遺伝的背景因子である2009

    • Author(s)
      牧村美佳、井原健二ほか5名
    • Organizer
      第23回日本小児脂質研究会
    • Place of Presentation
      福岡
    • Related Report
      2011 Final Research Report 2009 Annual Research Report
  • [Presentation] 新生児期ガラクトース血症で発見される先天性シトリン欠損症と先天性〓大循環短絡症の血漿アミノ酸の比較2009

    • Author(s)
      井原健二, ほか4名
    • Organizer
      第51回日本先天代謝異常学会
    • Place of Presentation
      東京
    • Related Report
      2009 Annual Research Report
  • [Book] Cushing症候群.今日の小児治療指針第15版(分担)2012

    • Author(s)
      井原健二
    • Publisher
      医学書院
    • Related Report
      2011 Final Research Report
  • [Book] 糖原病-小児科診療ガイド(分担)2012

    • Author(s)
      井原健二
    • Publisher
      中山書院
    • Related Report
      2011 Final Research Report
  • [Book] 乳幼児の栄養に関する介入は,将来の2型糖尿病に対するリスクを軽減するか. EBM小児疾患の治療2011-2012(分担)2011

    • Author(s)
      井原健二
    • Publisher
      中外医学社
    • Related Report
      2011 Final Research Report
  • [Book] EBM小児疾患の治療2010-2011(分担):乳幼児の栄養に関する介入は将来の2型糖尿病に対するリスクを軽減するか2011

    • Author(s)
      井原健二
    • Publisher
      中外医学社
    • Related Report
      2011 Annual Research Report
  • [Book] EBM小児疾患の治療2011-2012(分担),中外医学社2011

    • Author(s)
      井原健二
    • Publisher
      乳幼児の栄養に関する介入は, 将来の2型糖尿病に対するリスクを軽減するか
    • Related Report
      2010 Annual Research Report
  • [Book] 今日の小児治療指針第15版(分担)、医学書院

    • Author(s)
      井原健二
    • Publisher
      Cushing症候群(印刷中)
    • Related Report
      2010 Annual Research Report
  • [Book] 小児科診療ガイド(分担)、中山書院

    • Author(s)
      井原健二
    • Publisher
      糖原病(印刷中)
    • Related Report
      2010 Annual Research Report

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Published: 2009-04-01   Modified: 2016-04-21  

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