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ASSOCIATION OF BTG2, CYR61, ZFP36, AND SCD GENE POLYMORPHISMS WITH GRAVES' DISEASE AND OPHTHALMOPATHY.

Planck, Tereza LU ; Shahida, Bushra LU ; Sjögren, Marketa LU ; Groop, Leif LU ; Hallengren, Bengt LU and Lantz, Mikael LU (2014) In Thyroid 24(7). p.1156-1161
Abstract
Background: Environmental and genetic factors predispose an individual to the development of Graves' disease (GD). In an expression study of intraorbital tissue, adipocyte-related immediate early genes (IEGs) and immunomodulatory genes were found to be overexpressed in patients with Graves' ophthalmopathy (GO). We hypothesized that genetic variations in these genes could be associated with GD and/or GO. Methods: A total of 98 single nucleotide polymorphisms (SNPs) in twelve genes were genotyped in 594 GD patients with (n=267) or without (n=327) GO and 1147 sex- and ethnicity-matched controls from Malmö, Sweden. Results: Ten SNPs in four genes (BTG family, member 2 [BTG2], cysteine-rich, angiogenic inducer, 61 [CYR61], zinc finger protein... (More)
Background: Environmental and genetic factors predispose an individual to the development of Graves' disease (GD). In an expression study of intraorbital tissue, adipocyte-related immediate early genes (IEGs) and immunomodulatory genes were found to be overexpressed in patients with Graves' ophthalmopathy (GO). We hypothesized that genetic variations in these genes could be associated with GD and/or GO. Methods: A total of 98 single nucleotide polymorphisms (SNPs) in twelve genes were genotyped in 594 GD patients with (n=267) or without (n=327) GO and 1147 sex- and ethnicity-matched controls from Malmö, Sweden. Results: Ten SNPs in four genes (BTG family, member 2 [BTG2], cysteine-rich, angiogenic inducer, 61 [CYR61], zinc finger protein 36, C3H type, homolog mouse [ZFP36], and stearoyl-coenzyme A desaturase [SCD]) showed an association with GD and/or GO. SNPs rs12136280 (OR 1.29, p=0.002), rs6663606 (OR 1.26, p=0.004), and rs17534202 (OR 1.21, p=0.02) in BTG2 and rs3753793 (OR 1.21, p=0.03) in CYR61 were associated with GD. An association with GO was shown for SNPs rs3753793 (OR 1.45, p=0.008), rs6682848 (OR 1.55, p=0.03), rs12756618 (OR 1.77, p=0.049), and rs1378228 (OR 1.29, p=0.049) in CYR61, rs1057745 (OR 1.56, p=0.03) and rs11083522 (OR 1.32, p=0.04) in ZFP36, and rs1393491 (OR 1.38, p=0,048) in SCD. Smoking and CYR61 rs12756618 interacted to increase the risk of GO. Conclusions: We found associations of SNPs in IEGs and SCD with GD and/or GO; however, confirmation in a different population is required. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Thyroid
volume
24
issue
7
pages
1156 - 1161
publisher
Mary Ann Liebert, Inc.
external identifiers
  • pmid:24780075
  • wos:000338947600013
  • scopus:84903978111
ISSN
1557-9077
DOI
10.1089/thy.2013.0654
language
English
LU publication?
yes
id
ac35bc42-4980-46f5-981c-97f8b91baaaf (old id 4456106)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/24780075?dopt=Abstract
date added to LUP
2014-06-02 19:51:20
date last changed
2017-01-01 04:14:00
@article{ac35bc42-4980-46f5-981c-97f8b91baaaf,
  abstract     = {Background: Environmental and genetic factors predispose an individual to the development of Graves' disease (GD). In an expression study of intraorbital tissue, adipocyte-related immediate early genes (IEGs) and immunomodulatory genes were found to be overexpressed in patients with Graves' ophthalmopathy (GO). We hypothesized that genetic variations in these genes could be associated with GD and/or GO. Methods: A total of 98 single nucleotide polymorphisms (SNPs) in twelve genes were genotyped in 594 GD patients with (n=267) or without (n=327) GO and 1147 sex- and ethnicity-matched controls from Malmö, Sweden. Results: Ten SNPs in four genes (BTG family, member 2 [BTG2], cysteine-rich, angiogenic inducer, 61 [CYR61], zinc finger protein 36, C3H type, homolog mouse [ZFP36], and stearoyl-coenzyme A desaturase [SCD]) showed an association with GD and/or GO. SNPs rs12136280 (OR 1.29, p=0.002), rs6663606 (OR 1.26, p=0.004), and rs17534202 (OR 1.21, p=0.02) in BTG2 and rs3753793 (OR 1.21, p=0.03) in CYR61 were associated with GD. An association with GO was shown for SNPs rs3753793 (OR 1.45, p=0.008), rs6682848 (OR 1.55, p=0.03), rs12756618 (OR 1.77, p=0.049), and rs1378228 (OR 1.29, p=0.049) in CYR61, rs1057745 (OR 1.56, p=0.03) and rs11083522 (OR 1.32, p=0.04) in ZFP36, and rs1393491 (OR 1.38, p=0,048) in SCD. Smoking and CYR61 rs12756618 interacted to increase the risk of GO. Conclusions: We found associations of SNPs in IEGs and SCD with GD and/or GO; however, confirmation in a different population is required.},
  author       = {Planck, Tereza and Shahida, Bushra and Sjögren, Marketa and Groop, Leif and Hallengren, Bengt and Lantz, Mikael},
  issn         = {1557-9077},
  language     = {eng},
  number       = {7},
  pages        = {1156--1161},
  publisher    = {Mary Ann Liebert, Inc.},
  series       = {Thyroid},
  title        = {ASSOCIATION OF BTG2, CYR61, ZFP36, AND SCD GENE POLYMORPHISMS WITH GRAVES' DISEASE AND OPHTHALMOPATHY.},
  url          = {http://dx.doi.org/10.1089/thy.2013.0654},
  volume       = {24},
  year         = {2014},
}