Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hormone sensing transcription factor PPARG

The gene product is a hormone sensing transcription factor. Mutations cause autosomal dominant partial lipodystrophy type 3. Diseases associated with variations include glioma susceptibility 1, obesity, diabetes, and insulin resistance. Somatic mutations are observed in colon cancer cells.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Familial partial lipodystrophy type 3
PPARG
Insulin resistance
CIDEC
Diabetes mellitus with insulin resistance and acanthosis nigricans
INSR
ENPP1
IRS1
IRS2
PPARG
Combined familial hyperlipidemia with adipose tissue dysfunction
C5AR2
CREB3L3
LEPR
LIPE
PNPLA2
PPARG
USF1
Severe obesity
PPARG
SIM1

References:

1.

Hansen SK et al. (2005) Analysis of separate and combined effects of common variation in KCNJ11 and PPARG on risk of type 2 diabetes.

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2.

Doney AS et al. (2004) Association of the Pro12Ala and C1431T variants of PPARG and their haplotypes with susceptibility to Type 2 diabetes.

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3.

Doney AS et al. (2004) Cardiovascular risk in type 2 diabetes is associated with variation at the PPARG locus: a Go-DARTS study.

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4.

Zeggini E et al. (2005) Examining the relationships between the Pro12Ala variant in PPARG and Type 2 diabetes-related traits in UK samples.

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5.

Pihlajamäki J et al. (2000) The Pro12A1a substitution in the peroxisome proliferator activated receptor gamma 2 is associated with an insulin-sensitive phenotype in families with familial combined hyperlipidemia and in nondiabetic elderly subjects with dyslipidemia.

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6.

Eurlings PM et al. (2003) Variants in the PPARgamma gene affect fatty acid and glycerol metabolism in familial combined hyperlipidemia.

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7.

OMIM.ORG article

Omim 601487 [^]
8.

Orphanet article

Orphanet ID 117964 [^]
9.

NCBI article

NCBI 5468 [^]
10.

Wikipedia article

Wikipedia EN (Peroxisome_proliferator-activated_receptor_gamma) [^]
Update: April 29, 2019