Hormonsensitiver Transkriptionsfaktor PPARG
Das Gen kodiert einen hormonsensitiven Transkriptionsfaktor. Mutationen führen zur autosomal dominate partielle Lipodystrophie Typ 3. Folgende Erkrankungen wurden mit Variationen in disem Gen in Verbindung gebracht: Gliomneigung 1, Fettsucht, Diabetes und Insulinresistenz. Somatische Mutationen wurden in Zellen des Coloncarzinoms gefunden.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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
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8. |
Orphanet article
Orphanet ID 117964
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9. |
NCBI article
NCBI 5468
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Update: 14. August 2020