PMID- 24493031
OWN - NLM
STAT- MEDLINE
DCOM- 20150624
LR  - 20211021
IS  - 1559-0100 (Electronic)
IS  - 1355-008X (Linking)
VI  - 47
IP  - 2
DP  - 2014 Nov
TI  - Association of the genetic variants of insulin receptor substrate 1 (IRS-1) with 
      type 2 diabetes mellitus in a Saudi population.
PG  - 472-7
LID - 10.1007/s12020-014-0177-2 [doi]
AB  - Type 2 diabetes mellitus (T2DM) is a chronic degenerative disease, phenotypically 
      and genetically heterogeneous, characterized by high levels of glucose and 
      metabolic complications. Insulin receptor substrate 1 (IRS-1) plays a key role in 
      the insulin-stimulated signal transduction pathway. A glycine-to-arginine 
      substitution at codon 972 (G972R) (rs1801278) in the IRS-1 gene has been 
      associated with impaired insulin action. Another SNP rs2943641 in the IRS-1 gene 
      has been found to be associated with T2DM and insulin resistance in genome-wide 
      association studies. The aim of the present study was to evaluate whether 
      rs1801278 and rs2943641 are associated with increased risk of T2DM in the Saudi 
      population. The study included 376 T2DM cases and 380 healthy controls. Genomic 
      DNA was isolated using a commercially available kit supplied by Norgen Biotech 
      Corp. Genotyping was performed by PCR and RFLP analysis. There was a significant 
      difference in the genotypic distribution as well as allelic frequency between the 
      T2DM cases and controls in case of both the polymorphisms for rs1801278 (1.752, 
      95 % CI 1.002-3.121; p = 0.04), and for rs2943641 (OR = 1.482, 95 % CI 
      1.176-1.867; p = 0.001). In conclusion, both the (rs1801278 and rs2943641) 
      polymorphisms are associated with T2DM in the Saudi population.
FAU - Alharbi, Khalid Khalaf
AU  - Alharbi KK
AD  - Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, 
      King Saud University, P.O. Box 10219, Riyadh, 11433, Kingdom of Saudi Arabia.
FAU - Khan, Imran Ali
AU  - Khan IA
FAU - Munshi, Anjana
AU  - Munshi A
FAU - Alharbi, Fawiziah Khalaf
AU  - Alharbi FK
FAU - Al-Sheikh, Yazeed
AU  - Al-Sheikh Y
FAU - Alnbaheen, May Salem
AU  - Alnbaheen MS
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20140204
PL  - United States
TA  - Endocrine
JT  - Endocrine
JID - 9434444
RN  - 0 (IRS1 protein, human)
RN  - 0 (Insulin Receptor Substrate Proteins)
SB  - IM
EIN - Endocrine. 2020 Mar;67(3):733. PMID: 32034685
MH  - Adult
MH  - Alleles
MH  - Case-Control Studies
MH  - Diabetes Mellitus, Type 2/*genetics
MH  - Female
MH  - Gene Frequency
MH  - Genetic Predisposition to Disease
MH  - Genetic Variation
MH  - Genome-Wide Association Study
MH  - Genotype
MH  - Humans
MH  - Insulin Receptor Substrate Proteins/*genetics
MH  - Insulin Resistance/genetics
MH  - Male
MH  - Middle Aged
MH  - Saudi Arabia
EDAT- 2014/02/05 06:00
MHDA- 2015/06/25 06:00
CRDT- 2014/02/05 06:00
PHST- 2013/06/18 00:00 [received]
PHST- 2014/01/13 00:00 [accepted]
PHST- 2014/02/05 06:00 [entrez]
PHST- 2014/02/05 06:00 [pubmed]
PHST- 2015/06/25 06:00 [medline]
AID - 10.1007/s12020-014-0177-2 [doi]
PST - ppublish
SO  - Endocrine. 2014 Nov;47(2):472-7. doi: 10.1007/s12020-014-0177-2. Epub 2014 Feb 4.