ABCC8 genetic variants and risk of diabetes mellitus

被引：35

作者：

Haghverdizadeh, Polin ^{[1
]}

Haerian, Monir Sadat ^{[2
]}

Haghverdizadeh, Pantea ^{[3
]}

Haerian, Batoul Sadat ^{[4
]}

机构：

[1] Univ Putra Malaysia, Fac Med & Hlth Sci, Dept Biomed Sci, Kuala Lumpur, Malaysia

[2] Minist Hlth, FDCL, Tehran, Iran

[3] Azad Univ, Fac Sci, Dept, East Branch, Tehran, Iran

[4] Univ Malaya, Fac Med, Dept Pharmacol, Kuala Lumpur 50603, Malaysia

来源：

GENE | 2014年 / 545卷 / 02期

关键词：

Diabetes mellitus; ABCC8; Polymorphism; BETA-CELL FUNCTION; SINGLE NUCLEOTIDE POLYMORPHISMS; SENSITIVE POTASSIUM CHANNEL; RECEPTOR; GENE; SULFONYLUREA RECEPTOR; INSULIN-SECRETION; SEQUENCE VARIANTS; PHYSICAL-ACTIVITY; SUR1; TYPE-2;

D O I：

10.1016/j.gene.2014.04.040

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Diabetes mellitus (DM) is a major health problem worldwide and it will rapidly increase. This disease is characterized by hyperglycemia caused by defects in insulin secretion, insulin action or both. DM has three types: T1DM, T2M and gestational DM (GDM), of them T2DM is more frequent. Multiple genes and their interactions are involved in insulin secretion pathway. Sulfonylurea receptor encoded by ABCC8 gene, together with inward-rectifier potassium ion channel (Kir6.2) regulates insulin secretion by ATP-sensitive K+ (KATP) channel located in the plasma membranes. Disruption of these molecules by different mutations is responsible for risk of DM. Several single nucleotide polymorphisms (SNPs) of ABCC8 gene and their interaction are involved in pathogenicity of DM. This review summarizes the current evidence of contribution of ABC8 genetic variants to the development of DM. (C) 2014 Elsevier B.V. All rights reserved.

引用

页码：198 / 204

页数：7

共 58 条

[41]

Reis AF, 2002, DIABETES METAB, V28, P209

[42] Sulfonylurea receptor 1 gene variants are associated with gestational diabetes and type 2 diabetes but not with altered secretion of insulin [J].

Rissanen, J ;

Mykkänen, L ;

Markkanen, A ;

Kuusisto, J ;

Kàrkkäinen, P ;

Karhapää, P ;

Pihlajamäki, J ;

Niskanen, L ;

Kekäläinen, P ;

Laakso, M .

DIABETES CARE, 2000, 23 (01) :70-73

[43] ROLE OF GESTATIONAL HORMONES IN THE INDUCTION OF INSULIN RESISTANCE [J].

RYAN, EA ;

ENNS, L .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1988, 67 (02) :341-347

[44] SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes and blood pressure levels in the Japanese population [J].

Sakamoto, Yukiko ;

Inoue, Hiroshi ;

Keshavarz, Parvaneh ;

Miyawaki, Katsuyuki ;

Yamaguchi, Yuka ;

Moritani, Maki ;

Kunika, Kiyoshi ;

Nakamura, Naoto ;

Yoshikawa, Toshikazu ;

Yasui, Natsuo ;

Shiota, Hiroshi ;

Tanahashi, Toshihito ;

Itakura, Mitsuo .

JOURNAL OF HUMAN GENETICS, 2007, 52 (10) :781-793

[45] ABCC8 polymorphism (Ser1369Ala): influence eon severe hypoglycemia due to sulfonylureas [J].

Sato, Ryosuke ;

Watanabe, Hiroshi ;

Genma, Rieko ;

Takeuchi, Masahiro ;

Maekawa, Masato ;

Nakamura, Hirotoshi .

PHARMACOGENOMICS, 2010, 11 (12) :1743-1750

[46] Genetic and epigenetic control of metabolic health [J].

Schwenk, Robert Wolfgang ;

Vogel, Heike ;

Schuermann, Annette .

MOLECULAR METABOLISM, 2013, 2 (04) :337-347

[47] The common C49620T polymorphism in the sulfonylurea receptor gene (ABCC8), pancreatic beta cell function and long-term diabetic complications in obese patients with long-lasting type 2 diabetes mellitus [J].

Stefanski, A. ;

Majkowska, L. ;

Ciechanowicz, A. ;

Frankow, M. ;

Safranow, K. ;

Parczewski, M. ;

Pilarska, K. .

EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, 2007, 115 (05) :317-321

[48] Variants in the sulphonylurea receptor gene:: association of the exon 16-3t variant with Type II diabetes mellitus in Dutch Caucasians [J].

't Hart, LM ;

de Knijff, P ;

Dekker, JM ;

Stolk, RP ;

Nijpels, G ;

van der Does, FEE ;

Ruige, JB ;

Grobbee, DE ;

Heine, RJ ;

Maassen, JA .

DIABETOLOGIA, 1999, 42 (05) :617-620

[49] A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and β-cell glucose sensing is associated with type 2 diabetes in adults [J].

Tarasov, Andrei I. ;

Nicolson, Tamara J. ;

Riveline, Jean-Pierre ;

Taneja, Tarvinder K. ;

Baldwin, Stephen A. ;

Baldwin, Jocelyn M. ;

Charpentier, Guillaume ;

Gautier, Jean-Francois ;

Froguel, Philippe ;

Vaxillaire, Martine ;

Rutter, Guy A. .

DIABETES, 2008, 57 (06) :1595-1604

[50] Immunomodulatory therapy to preserve pancreatic β-cell function in type 1 diabetes [J].

Waldron-Lynch, Frank ;

Herold, Kevan C. .

NATURE REVIEWS DRUG DISCOVERY, 2011, 10 (06) :439-452

← 1 2 3 4 5 6 →