PMID- 22704848
OWN - NLM
STAT- MEDLINE
DCOM- 20121126
LR  - 20181217
IS  - 1873-5487 (Electronic)
IS  - 0188-4409 (Linking)
VI  - 43
IP  - 4
DP  - 2012 May
TI  - Effects of single nucleotide polymorphisms in K(ATP) channel genes on type 2 
      diabetes in a Turkish population.
PG  - 317-23
LID - 10.1016/j.arcmed.2012.06.001 [doi]
AB  - BACKGROUND AND AIMS: ATP-sensitive potassium (K(ATP)) channels of pancreatic 
      beta-cells play a key role in glucose-stimulated insulin secretion mechanism. The 
      Kir6.2 protein, forming the K(ATP) channel pore inwardly, and the SUR1 protein 
      that surrounds it forming the outside part of the channel were encoded by ABCC8 
      and KCNJ11 genes, respectively. Recent studies reported that the single 
      nucleotide polymorphisms (SNPs) established in these genes are associated with 
      defects in insulin secretion and type 2 diabetes mellitus (T2DM). We aimed to 
      investigate the allele profiles and the risk alleles of the ABCC8 and KCNJ11 
      genes and to highlight the associations with the disease in patients in Konya 
      region of Turkey where T2DM is common. METHODS: In this study, 169 patients with 
      T2DM and 119 healthy controls were included. A total of 29 SNPs in ABCC8 and 
      KCNJ11 genes were screened by PCR-SSCP technique and sequenced. Biochemical 
      parameters and genotype-phenotype relationships were analyzed using variance 
      analysis. RESULTS: R1273R silent substitution in exon 31 and 16/-3t-->c 
      substitution in noncoding region of exon 16 of ABCC8 gene showed a significant 
      association (OR 4.8 [95% CI 2.41-9.77], p <0.001 and OR 3.5 [95% CI 1.64-7.40], p 
      <0.001 under dominant and recessive models, respectively). We detected a 
      significant association between E/K heterozygote genotype and reduced plasma 
      insulin level in patients with T2DM (p <0.05). CONCLUSIONS: ABCC8 exons 16 and 31 
      variants increase susceptibility to T2DM and KCNJ11 E23K decreases insulin 
      secretion in a Turkish population.
CI  - Copyright (c) 2012 IMSS. Published by Elsevier Inc. All rights reserved.
FAU - Gonen, Mustafa Sait
AU  - Gonen MS
AD  - Department of Endocrinology, Meram Medical Faculty, Selcuk University, Konya, 
      Turkey. saitgonen@selcuk.edu.tr
FAU - Arikoglu, Hilal
AU  - Arikoglu H
FAU - Erkoc Kaya, Dudu
AU  - Erkoc Kaya D
FAU - Ozdemir, Hulya
AU  - Ozdemir H
FAU - Ipekci, Suleyman Hilmi
AU  - Ipekci SH
FAU - Arslan, Ahmet
AU  - Arslan A
FAU - Kayis, Seyit Ali
AU  - Kayis SA
FAU - Gogebakan, Bulent
AU  - Gogebakan B
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120613
PL  - United States
TA  - Arch Med Res
JT  - Archives of medical research
JID - 9312706
RN  - 0 (ABCC8 protein, human)
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - 0 (Insulin)
RN  - 0 (Kir6.2 channel)
RN  - 0 (Potassium Channels, Inwardly Rectifying)
RN  - 0 (Receptors, Drug)
RN  - 0 (Sulfonylurea Receptors)
SB  - IM
MH  - ATP-Binding Cassette Transporters/*genetics
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - DNA Mutational Analysis
MH  - Diabetes Mellitus, Type 2/blood/ethnology/*genetics
MH  - Exons/genetics
MH  - Female
MH  - Genes, Dominant
MH  - Genes, Recessive
MH  - Genetic Predisposition to Disease
MH  - Genotype
MH  - Humans
MH  - Insulin/blood/*metabolism
MH  - Insulin Resistance/genetics
MH  - Insulin Secretion
MH  - Male
MH  - Middle Aged
MH  - *Polymorphism, Single Nucleotide
MH  - Potassium Channels, Inwardly Rectifying/*genetics
MH  - Receptors, Drug/*genetics
MH  - Sulfonylurea Receptors
MH  - Turkey/epidemiology
EDAT- 2012/06/19 06:00
MHDA- 2012/12/10 06:00
CRDT- 2012/06/19 06:00
PHST- 2011/08/04 00:00 [received]
PHST- 2012/05/24 00:00 [accepted]
PHST- 2012/06/19 06:00 [entrez]
PHST- 2012/06/19 06:00 [pubmed]
PHST- 2012/12/10 06:00 [medline]
AID - S0188-4409(12)00156-7 [pii]
AID - 10.1016/j.arcmed.2012.06.001 [doi]
PST - ppublish
SO  - Arch Med Res. 2012 May;43(4):317-23. doi: 10.1016/j.arcmed.2012.06.001. Epub 2012 
      Jun 13.