Normal allele: CC
The Gly972-->Arg amino acid polymorphism in IRS-1 impairs insulin secretion in pancreatic beta cells. It also causes impaired insulin signalling and affects glucose metabolism in skeletal muscle cells.
Polymorphism rs1801278 is related to topics like this:
Research and publications:
8104271 Aminoacid polymorphisms of insulin receptor substrate-1 in non-insulin-dependent diabetes mellitus.
14671192 Genetic polymorphism PC-1 K121Q and ethnic susceptibility to insulin resistance.
17570749 Genetic prediction of future type 2 diabetes
18398040 Transcription factor 7-like 2 polymorphism and colon cancer
19124510 Insulin-like growth factor-1- and interleukin-6-related gene variation and risk of multiple myeloma
19956100 No association of the IRS1 and PAX4 genes with type I diabetes.
19956101 Overview of the Rapid Response data
20081858 New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
20392289 Genetic associations in type I interferon related pathways with autoimmunity.
20416077 Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
21442158 Genetic variants near the IRS1 gene, physical activity and type 2 diabetes in US men and women.
23633196 Joint effect of insulin signaling genes on insulin secretion and glucose homeostasis.
23690305 Genetic variants and the risk of gestational diabetes mellitus: a systematic review
23708959 Association between insulin receptor substrate 1 Gly972Arg polymorphism and cancer risk.
24309190 Genetics of new-onset diabetes after transplantation.
24589556 Insulin receptor substrate-1 polymorphism Arg972, risk and severity of Alzheimer's disease.
25424426 Arg972 insulin receptor substrate-1 polymorphism and risk and severity of rheumatoid arthritis.
27314342 A Guide to Non-Alcoholic Fatty Liver Disease in Childhood and Adolescence.
27376028 Polymorphisms of Insulin-Like Growth Factor 1 Pathway Genes and Breast Cancer Risk.
27547017 Genetic factors that affect nonalcoholic fatty liver disease: A systematic clinical review.
27657051 Molecular Pathogenesis of NASH.
28696414 Pharmacogenetics of oral antidiabetes drugs: evidence for diverse signals at the IRS1 locus.
29340108 Effect of gene-lifestyle interaction on gestational diabetes risk.
29622662 Potential genetic polymorphisms predicting polycystic ovary syndrome.
30515958 Pharmacogenetics of type 2 diabetes mellitus, the route toward tailored medicine.
31704287 Genetic variants in mTOR-pathway-related genes contribute to osteoarthritis susceptibility.
32326111 Role of Genetic Variations in the Hepatic Handling of Drugs.