文献詳細
文献概要
今月の主題 糖尿病の病態解析 総論
糖尿病関連遺伝子
著者: 岩﨑直子1
所属機関: 1東京女子医科大学糖尿病センター
ページ範囲:P.987 - P.997
文献購入ページに移動 糖尿病領域における遺伝素因の解明は,最近20年間で飛躍的な発展を遂げた.MODY遺伝子の解明,ミトコンドリア異常症による糖尿病とその表現型の解明,全ゲノムスキャンによる1型糖尿病ならびに2型糖尿病における多数の感受性座位の同定などである.このような原因遺伝子/感受性多型の発見は,糖尿病の病態解明や遺伝子診断において画期的な進歩をもたらした.本稿では,糖尿病に関連した遺伝子研究成果の現状をまとめるとともに,遺伝子検査を臨床場面に取り入れるに当たって配慮すべき懸案事項についてご紹介する.
参考文献
1) 清野裕,南條輝志男,田嶼尚子,他:糖尿病の分類と診断基準に関する委員会報告.糖尿病 53:450-467,2010
2) Fajans SS, Bell GI, Polonsky KS:Molecular Mechanisms and clinical pathophysiology of Maturity-onset diabetes of the young. N Engl J Med 345:971-980,2001
3) Meur G, Simon A, Harun N, et al:Insulin gene mutations resulting in early-onset diabetes:marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention. Diabetes 59:653-661,2010
4) Raeder H, Johansson S, Holm PI, et al:Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nat Genet 38:54-62,2006
5) Njølstad PR, Søvik O, Cuesta-Mounoz A:Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med 344:1588-1592,2001
6) Thomas IH, Saini NK, Adhikari A, et al:Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. Pediatr Diabetes 7:492-496,2009
7) Beijers HJ, Losekoot M, Odink RJ, et al:Hepatocyte nuclear factor (HNF) 1A and HNF4A substitution occurring simultaneously in a family with maturity-onset diabetes of the young. Diabet Med 26:1172-1174,2009
8) Boileau P, Wolfrum C, Shih DQ, et al:Decreased glibenclamide uptake in hepatocytes of hepatocyte nuclear factor-1alpha-deficient mice:a mechanism for hypersensitivity to sulfonylurea therapy in patients with maturity-onset diabetes of the young, type 3 (MODY3). Diabetes 51:S343-S348,2002
9) Menzel R, Kaisaki PJ, Rjasanowski I, et al:A low renal threshold for glucose in diabetic patients with a mutation in the hepatocyte nuclear factor-1alpha (HNF-1alpha) gene. Diabet Med 15:816-820,1998
10) 中井利昭(編):検査値のみかた,中央医学社,2006
11) Bellanne-Chantelot C, Clauin S, Chauveau D, et al:Large genomic rearrangements in the hepatocyte nuclear factor-1beta(TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes 54:3126-3132,2005
12) Greeley SA, Tucker SE, Naylor RN, et al:Neonatal diabetes mellitus:A model for personalized medicine. Trends Endocrinol Metab 21:464-472,2010
13) Babenko AP, Polak M, Cave H, et al:Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. New Engl J Med 355:456-466,2006
14) Kadowaki T, Kadowaki H, Mori Y, et al:A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. N Engl J Med 330:962-968,1994
15) Goto Y:Clinical features of MELAS and mitochondrial DNA mutations. Muscle Nerve 3:S107-S112,1995
16) 鈴木進,鈴木道子:糖尿病.日臨 60増:595-601,2002
17) Concannon P, Rich SS, Nepom GT:Genetics of type 1A diabetes. N Engl J Med 360:1646-1654,2009
18) Støy J, Edghill EL, Flanagan SE, et al:Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci USA 104:15040-15044,2007
19) Stolerman ES, Florez JC:Genomics of type 2 diabetes mellitus:implications for the clinician. Nat Rev Endocrinol 5:429-436,2009
20) Okamoto K, Iwasaki N, Nishimura C, et al:Identification of KCNJ15 as a susceptibility gene in Asian patients with type 2 diabetes mellitus. Am J Hum Genet 86:54-64,2010
21) Miyake K, Yang W, Hara K, et al:Construction of a prediction model for type 2 diabetes mellitus in the Japanese population based on 11 genes with strong evidence of the association. J Hum Genet 54:236-241,2009
22) 遺伝医学関連学会(編):遺伝学的検査に関するガイドライン,2003
掲載誌情報