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INSULIN RESISTANCE, DIGENIC

MedGen UID:
865175
•Concept ID:
C4016738
•
Finding
Synonym: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension
 
OMIM®: 601487

Recent clinical studies

Etiology

Genetic analysis of candidate SNPs for metabolic syndrome in obstructive sleep apnea (OSA).
Grilo A, Ruiz-Granados ES, Moreno-Rey C, Rivera JM, Ruiz A, Real LM, Sáez ME
Gene 2013 May 25;521(1):150-4. Epub 2013 Mar 21 doi: 10.1016/j.gene.2013.03.024. PMID: 23524009Free PMC Article
Role of PC-1 and ACE genes on insulin resistance and cardiac mass in never-treated hypertensive patients. Suggestive evidence for a digenic additive modulation.
Perticone F, Maio R, Di Paola R, Sciacqua A, Marucci A, De Cosmo S, Perticone M, Sesti G, Trischitta V
Nutr Metab Cardiovasc Dis 2007 Mar;17(3):181-7. Epub 2006 Mar 20 doi: 10.1016/j.numecd.2005.11.013. PMID: 17367703
High frequency of mutations in the HNF-1alpha gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance.
Tonooka N, Tomura H, Takahashi Y, Onigata K, Kikuchi N, Horikawa Y, Mori M, Takeda J
Diabetologia 2002 Dec;45(12):1709-12. Epub 2002 Nov 16 doi: 10.1007/s00125-002-0978-3. PMID: 12488961

Diagnosis

Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.
Suliman SG, Stanik J, McCulloch LJ, Wilson N, Edghill EL, Misovicova N, Gasperikova D, Sandrikova V, Elliott KS, Barak L, Ellard S, Volpi EV, Klimes I, Gloyn AL
Diabetes 2009 Dec;58(12):2954-61. Epub 2009 Aug 31 doi: 10.2337/db09-0787. PMID: 19720790Free PMC Article
High frequency of mutations in the HNF-1alpha gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance.
Tonooka N, Tomura H, Takahashi Y, Onigata K, Kikuchi N, Horikawa Y, Mori M, Takeda J
Diabetologia 2002 Dec;45(12):1709-12. Epub 2002 Nov 16 doi: 10.1007/s00125-002-0978-3. PMID: 12488961

Clinical prediction guides

Genetic analysis of candidate SNPs for metabolic syndrome in obstructive sleep apnea (OSA).
Grilo A, Ruiz-Granados ES, Moreno-Rey C, Rivera JM, Ruiz A, Real LM, Sáez ME
Gene 2013 May 25;521(1):150-4. Epub 2013 Mar 21 doi: 10.1016/j.gene.2013.03.024. PMID: 23524009Free PMC Article

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