Molecular scanning of the human peroxisome proliferator activated receptor gamma (hPPAR gamma) gene in diabetic Caucasians: identification of a Pro12Ala PPAR gamma 2 missense mutation

Biochemical and Biophysical Research Communications
C J YenA R Shuldiner

Abstract

Peroxisome proliferator activated receptor-gamma (PPAR gamma) is a nuclear receptor that regulates adipocyte differentiation, and possibly lipid metabolism and insulin sensitivity. As such, PPAR gamma is a promising candidate gene for several human disorders including obesity and type 2 diabetes mellitus. Screening for mutations in the entire coding region of the PPAR gamma gene (both gamma 1 and gamma 2 isoforms) was performed with DNA of 26 diabetic Caucasians with or without obesity. Two base substitutions were identified: a silent mutation at nucleotide 1431 (CACHis-->CATHis) and a missense mutation (CCGPro-->GCGAla) at codon 12 of PPAR gamma 2. The allele frequency of the Pro12Ala PPAR gamma 2 variant was 0.12 in Caucasian Americans, 0.10 in Mexican Americans, 0.08 in Samoans, 0.03 in African Americans, 0.02 in Nauruans, and 0.01 in Chinese. We conclude that the Pro12Ala PPAR gamma 2 gene variant is present in diverse populations. Further studies of the Pro12Ala variant will determine its relevance to obesity, insulin resistance, and type 2 diabetes.

Citations

Feb 17, 2010·Human Genetics·Stephanie M FullertonWylie Burke
May 5, 2011·International Journal of Obesity : Journal of the International Association for the Study of Obesity·A LamriF Fumeron
Aug 26, 2006·Nature Clinical Practice. Nephrology·Usha PanchapakesanCarol A Pollock
Aug 31, 2002·Clinical Endocrinology·E A McIntyre, M Walker
Oct 13, 2000·European Journal of Clinical Investigation·A SchäfflerG Schmitz
Oct 1, 1998·The New England Journal of Medicine·M RistowC R Kahn
Nov 10, 2005·Public Health Nutrition·Ricardo Uauy, Erik Díaz
Sep 18, 2004·The Proceedings of the Nutrition Society·Michael J Gibney, Eileen R Gibney
Mar 29, 2008·Metabolic Syndrome and Related Disorders·K S VimaleswaranV Mohan
Nov 11, 2009·Metabolic Syndrome and Related Disorders·Sakthi Baby GayathriViswanathan Mohan
Mar 29, 2008·Annals of Oncology : Official Journal of the European Society for Medical Oncology·K N PrasadN Krishnani
Mar 3, 2007·Applied Physiology, Nutrition, and Metabolism = Physiologie Appliquée, Nutrition Et Métabolisme·Margarita Terán-García, Claude Bouchard
Jun 8, 2001·Annual Review of Biochemistry·T M WillsonS A Kliewer
Jun 11, 2002·Annual Review of Nutrition·Frédéric Picard, Johan Auwerx
Jan 9, 2003·Annual Review of Physiology·Gordon A FrancisJohan Auwerx
Apr 25, 2009·PPAR Research·Weimin He
Jun 30, 2012·PPAR Research·Angélica Amorim Amato, Francisco de Assis Rocha Neves
Sep 11, 2008·The Journal of Clinical Endocrinology and Metabolism·Jose C Florez
Mar 26, 2008·Circulation Journal : Official Journal of the Japanese Circulation Society·Liu DongxiaGuo Jincheng
Apr 2, 2002·Hypertension Research : Official Journal of the Japanese Society of Hypertension·Junko YamamotoNaoko Tajima
Dec 15, 2010·World Journal of Gastroenterology : WJG·Johannes-W ReyMargarete Odenthal
Aug 25, 2007·Pharmacogenomics·Christina L Aquilante
Jun 19, 2004·Clinical Chemistry and Laboratory Medicine : CCLM·Małgorzata Malczewska-MalecAldona Dembinska-Kiec

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.