Functional SOCS1 polymorphisms are associated with variation in obesity in whites

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Standard

Functional SOCS1 polymorphisms are associated with variation in obesity in whites. / Gylvin, T; Ek, J; Nolsøe, R.; Albrechtsen, A.; Andersen, G; Bergholdt, R.; Brorsson, C; Bang-Berthelsen, C. H.; Hansen, T.; Karlsen, A. E.; Billestrup, N; Borch-Johnsen, K; Jørgensen, Torben; Pedersen, Oluf; Mandrup-Poulsen, T; Nerup, J.; Pociot, Flemming Michael.

In: Diabetes, Obesity and Metabolism, Vol. 11, No. 3, 2009, p. 196-203.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Gylvin, T, Ek, J, Nolsøe, R, Albrechtsen, A, Andersen, G, Bergholdt, R, Brorsson, C, Bang-Berthelsen, CH, Hansen, T, Karlsen, AE, Billestrup, N, Borch-Johnsen, K, Jørgensen, T, Pedersen, O, Mandrup-Poulsen, T, Nerup, J & Pociot, FM 2009, 'Functional SOCS1 polymorphisms are associated with variation in obesity in whites', Diabetes, Obesity and Metabolism, vol. 11, no. 3, pp. 196-203. https://doi.org/10.1111/j.1463-1326.2008.00900.x

APA

Gylvin, T., Ek, J., Nolsøe, R., Albrechtsen, A., Andersen, G., Bergholdt, R., Brorsson, C., Bang-Berthelsen, C. H., Hansen, T., Karlsen, A. E., Billestrup, N., Borch-Johnsen, K., Jørgensen, T., Pedersen, O., Mandrup-Poulsen, T., Nerup, J., & Pociot, F. M. (2009). Functional SOCS1 polymorphisms are associated with variation in obesity in whites. Diabetes, Obesity and Metabolism, 11(3), 196-203. https://doi.org/10.1111/j.1463-1326.2008.00900.x

Vancouver

Gylvin T, Ek J, Nolsøe R, Albrechtsen A, Andersen G, Bergholdt R et al. Functional SOCS1 polymorphisms are associated with variation in obesity in whites. Diabetes, Obesity and Metabolism. 2009;11(3):196-203. https://doi.org/10.1111/j.1463-1326.2008.00900.x

Author

Gylvin, T ; Ek, J ; Nolsøe, R. ; Albrechtsen, A. ; Andersen, G ; Bergholdt, R. ; Brorsson, C ; Bang-Berthelsen, C. H. ; Hansen, T. ; Karlsen, A. E. ; Billestrup, N ; Borch-Johnsen, K ; Jørgensen, Torben ; Pedersen, Oluf ; Mandrup-Poulsen, T ; Nerup, J. ; Pociot, Flemming Michael. / Functional SOCS1 polymorphisms are associated with variation in obesity in whites. In: Diabetes, Obesity and Metabolism. 2009 ; Vol. 11, No. 3. pp. 196-203.

Bibtex

@article{4298ab3019ff11deb43e000ea68e967b,
title = "Functional SOCS1 polymorphisms are associated with variation in obesity in whites",
abstract = "AIMS/HYPOTHESIS: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS/INTERPRETATION: This study demonstrates that functional variations in the SOCS1 promoter may associate with alterations in BMI in the general white population.",
author = "T Gylvin and J Ek and R. Nols{\o}e and A. Albrechtsen and G Andersen and R. Bergholdt and C Brorsson and Bang-Berthelsen, {C. H.} and T. Hansen and Karlsen, {A. E.} and N Billestrup and K Borch-Johnsen and Torben J{\o}rgensen and Oluf Pedersen and T Mandrup-Poulsen and J. Nerup and Pociot, {Flemming Michael}",
year = "2009",
doi = "10.1111/j.1463-1326.2008.00900.x",
language = "English",
volume = "11",
pages = "196--203",
journal = "Diabetes, Obesity and Metabolism",
issn = "1462-8902",
publisher = "Wiley-Blackwell",
number = "3",

}

RIS

TY - JOUR

T1 - Functional SOCS1 polymorphisms are associated with variation in obesity in whites

AU - Gylvin, T

AU - Ek, J

AU - Nolsøe, R.

AU - Albrechtsen, A.

AU - Andersen, G

AU - Bergholdt, R.

AU - Brorsson, C

AU - Bang-Berthelsen, C. H.

AU - Hansen, T.

AU - Karlsen, A. E.

AU - Billestrup, N

AU - Borch-Johnsen, K

AU - Jørgensen, Torben

AU - Pedersen, Oluf

AU - Mandrup-Poulsen, T

AU - Nerup, J.

AU - Pociot, Flemming Michael

PY - 2009

Y1 - 2009

N2 - AIMS/HYPOTHESIS: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS/INTERPRETATION: This study demonstrates that functional variations in the SOCS1 promoter may associate with alterations in BMI in the general white population.

AB - AIMS/HYPOTHESIS: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS/INTERPRETATION: This study demonstrates that functional variations in the SOCS1 promoter may associate with alterations in BMI in the general white population.

U2 - 10.1111/j.1463-1326.2008.00900.x

DO - 10.1111/j.1463-1326.2008.00900.x

M3 - Journal article

C2 - 19215277

VL - 11

SP - 196

EP - 203

JO - Diabetes, Obesity and Metabolism

JF - Diabetes, Obesity and Metabolism

SN - 1462-8902

IS - 3

ER -

ID: 11551888