PPARg2 Ala¹² variant protects against Graves' orbitopathy and modulates the course of the disease.
PBN-AR
Instytucja
Instytut Immunologii i Terapii Doświadczalnej im. Ludwika Hirszfelda Polskiej Akademii Nauk
Informacje podstawowe
Główny język publikacji
EN
Czasopismo
Immunogenetics
ISSN
0093-7711
EISSN
1432-1211
Wydawca
New York, NY : Springer Verlag
Rok publikacji
2013
Numer zeszytu
7
Strony od-do
493-500
Numer tomu
65
Identyfikator DOI
Liczba arkuszy
Autorzy
(liczba autorów: 7)
Pozostali autorzy
+ 5
Słowa kluczowe
EN
PPARg2
Graves' orbitopathy
Gene polymorphism
Adipocyte
Streszczenia
Język
EN
Treść
Orbital fibroblast differentiation to adipocytes is a peroxisome proliferator-activated receptor g (PPARg)-dependent process essential for pathogenic tissue remodeling in Graves' orbitopathy (GO). PPARg2 Pro12Ala polymorphism modulates expression and/or function of the molecule encoded by this gene and is a promising locus of GO. Here, we analyzed associations of PPARg2 Pro12Ala with clinical manifestation of GO in 742 Polish Caucasians including 276 Graves' disease (GD) patients. In our study, the Ala12 allele and Ala12 variant (Ala12Ala and/or Pro12Ala genotype) decreased the risk of GO (p = 0.000012 and p = 0.00013). Moreover, Ala12Ala genotype was observed only in patients without GO (p = 0.002). GD patients with Ala12 variant had less active and less severe eye symptoms. Female carriers of the Ala12 allele rarely developed GO, but the marker was not related to symptoms of GO. The opposite finding was recorded in males, in whom the studied polymorphism was related to activity, but not to the development, of GO. In Ala12 variant carriers without familial history of thyroid disease, risk of GO was lower than in persons with a familial background. The Ala12 allele seemed to protect smokers from GO, but in nonsmokers, such a relation was not obvious. A multivariate analysis indicated the Pro12Ala marker as an independent risk factor of eye symptoms (p = 0.0001) and lack of Ala increases the risk of GO 3.24-fold. In conclusion, the gain-of-function Ala12 variant protects against GO and modulates the course of the disease.
Cechy publikacji
artykuł oryginalny
Inne
System-identifier
PX-56b48bcc8106eb71826f8281
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