Sökning: onr:"swepub:oai:lup.lub.lu.se:a38de4a4-b2b9-4f54-8616-0999ce1fc3fb" >
Functional SOCS1 po...
Functional SOCS1 polymorphisms are associated with variation in obesity in whites
-
Gylvin, T. (författare)
-
Ek, J. (författare)
-
Nolsoe, R. (författare)
-
visa fler...
-
Albrechtsen, A. (författare)
-
Andersen, G. (författare)
-
Bergholdt, R. (författare)
-
Brorsson, C. (författare)
-
Bang-Berthelsen, C. H. (författare)
-
Hansen, T. (författare)
-
Karlsen, A E (författare)
-
Billestrup, N. (författare)
-
Borch-Johnsen, K. (författare)
-
Jorgensen, T. (författare)
-
Pedersen, O. (författare)
-
Mandrup-Poulsen, T. (författare)
-
- Nerup, Jörn (författare)
- Lund University,Lunds universitet,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Department of Clinical Sciences, Lund,Faculty of Medicine
-
- Pociot, Flemming (författare)
- Lund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Department of Clinical Sciences, Malmö,Faculty of Medicine
-
visa färre...
-
(creator_code:org_t)
- Wiley, 2009
- 2009
- Engelska.
-
Ingår i: Diabetes, Obesity and Metabolism. - : Wiley. - 1462-8902 .- 1463-1326. ; 11:3, s. 196-203
- Relaterad länk:
-
http://dx.doi.org/10...
-
visa fler...
-
https://lup.lub.lu.s...
-
https://doi.org/10.1...
-
visa färre...
Abstract
Ämnesord
Stäng
- The suppressor of cytokine signalling 1 (SOCS1) is a natural inhibitor of cytokine and insulin signalling pathways and may also play a role in obesity. In addition, SOCS1 is considered a candidate gene in the pathogenesis of both type 1 diabetes (T1D) and type 2 diabetes (T2D). The objective was to perform mutation analysis of SOCS1 and to test the identified variations for association to T2D-related quantitative traits, T2D or T1D. Mutation scanning was performed by direct sequencing in 27 white Danish subjects. Genotyping was carried out by TaqMan allelic discrimination. A total of more than 8100 individuals were genotyped. Eight variations were identified in the 5' untranslated region (UTR) region. Two of these had allele frequencies below 1% and were not further examined. The six other variants were analysed in groups of T1D families (n = 1461 subjects) and T2D patients (n = 1430), glucose tolerant first-degree relatives of T2D patients (n = 212) and normal glucose tolerant (NGT) subjects. The rs33977706 polymorphism (-820G > T) was associated with a lower body mass index (BMI) (p = 0.004). In a second study (n = 4625 NGT subjects), significant associations of both the rs33977706 and the rs243330 (-1656G > A) variants to obesity were found (p = 0.047 and p = 0.015) respectively. The rs33977706 affected both binding of a nuclear protein to and the transcriptional activity of the SOCS1 promoter, indicating a relationship between this polymorphism and gene regulation. This study demonstrates that functional variations in the SOCS1 promoter may associate with alterations in BMI in the general white population.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
Nyckelord
- promoter activity
- SOCS
- obesity
- insulin
- EMSA
- cytokines
- diabetes
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
-
Gylvin, T.
-
Ek, J.
-
Nolsoe, R.
-
Albrechtsen, A.
-
Andersen, G.
-
Bergholdt, R.
-
visa fler...
-
Brorsson, C.
-
Bang-Berthelsen, ...
-
Hansen, T.
-
Karlsen, A E
-
Billestrup, N.
-
Borch-Johnsen, K ...
-
Jorgensen, T.
-
Pedersen, O.
-
Mandrup-Poulsen, ...
-
Nerup, Jörn
-
Pociot, Flemming
-
visa färre...
- Om ämnet
-
- MEDICIN OCH HÄLSOVETENSKAP
-
MEDICIN OCH HÄLS ...
-
och Klinisk medicin
-
och Endokrinologi oc ...
- Artiklar i publikationen
-
Diabetes, Obesit ...
- Av lärosätet
-
Lunds universitet