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Genome-wide association study on differentiated thyroid cancer.

Köhler, Aleksandra; Chen, Bowang LU ; Gemignani, Federica; Elisei, Rossella; Romei, Cristina; Figlioli, Gisella; Cipollini, Monica; Cristaudo, Alfonso; Bambi, Franco and Hoffmann, Per, et al. (2013) In Journal of Clinical Endocrinology and Metabolism 98(10). p.1674-1681
Abstract
Context:Genome-wide association studies (GWASs) of differentiated thyroid cancer (DTC) have identified associations with polymorphisms at 2q35 (DIRC3), 8p12 (NRG1), 9q22.33 (FOXE1) and 14q13.2 (NKX2-1). However, most of the inherited genetic risk factors of DTC remain to be discovered.Objective:Our objective was to identify additional common DTC susceptibility loci.Design:We conducted a GWAS in a high-incidence Italian population of 690 cases and 497 controls and followed up the most significant polymorphisms in two additional Italian series and in three low-incidence populations totaling 2,958 cases and 3,727 controls.Results:After excluding the most robust previously identified locus (9q22.33), the strongest association was shown by... (More)
Context:Genome-wide association studies (GWASs) of differentiated thyroid cancer (DTC) have identified associations with polymorphisms at 2q35 (DIRC3), 8p12 (NRG1), 9q22.33 (FOXE1) and 14q13.2 (NKX2-1). However, most of the inherited genetic risk factors of DTC remain to be discovered.Objective:Our objective was to identify additional common DTC susceptibility loci.Design:We conducted a GWAS in a high-incidence Italian population of 690 cases and 497 controls and followed up the most significant polymorphisms in two additional Italian series and in three low-incidence populations totaling 2,958 cases and 3,727 controls.Results:After excluding the most robust previously identified locus (9q22.33), the strongest association was shown by rs6759952 confirming the recently published association in DIRC3 (OR = 1.21, P = 6.4 × 10(-10), GWAS and all replications combined). Additionally, in the combined analysis of the Italian series, suggestive associations were attained with rs10238549 and rs7800391 in IMMP2L (OR = 1.27, P = 4.1 × 10(-6) and OR = 1.25, P = 5.7 × 10(-6)), rs7617304 in RARRES1 (OR =1.25, P = 4.6 × 10(-5)) and rs10781500 in SNAPC4/CARD9 (OR = 1.23, P = 3.5 × 10(-5)).Conclusions:Our findings provide further insights into the genetic and biological basis of inherited genetic susceptibility to DTC. Further studies are needed to determine the role of the identified polymorphisms in the development of DTC and their possible use in the clinical practice. (Less)
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Contribution to journal
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published
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Journal of Clinical Endocrinology and Metabolism
volume
98
issue
10
pages
1674 - 1681
publisher
The Endocrine Society
external identifiers
  • wos:000325365900015
  • pmid:23894154
  • scopus:84885235141
ISSN
1945-7197
DOI
10.1210/jc.2013-1941
language
English
LU publication?
yes
id
767054d2-8f5e-45bb-9e77-1f93571dcb41 (old id 3955531)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/23894154?dopt=Abstract
date added to LUP
2013-08-01 15:41:43
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2019-02-10 03:07:41
@article{767054d2-8f5e-45bb-9e77-1f93571dcb41,
  abstract     = {Context:Genome-wide association studies (GWASs) of differentiated thyroid cancer (DTC) have identified associations with polymorphisms at 2q35 (DIRC3), 8p12 (NRG1), 9q22.33 (FOXE1) and 14q13.2 (NKX2-1). However, most of the inherited genetic risk factors of DTC remain to be discovered.Objective:Our objective was to identify additional common DTC susceptibility loci.Design:We conducted a GWAS in a high-incidence Italian population of 690 cases and 497 controls and followed up the most significant polymorphisms in two additional Italian series and in three low-incidence populations totaling 2,958 cases and 3,727 controls.Results:After excluding the most robust previously identified locus (9q22.33), the strongest association was shown by rs6759952 confirming the recently published association in DIRC3 (OR = 1.21, P = 6.4 × 10(-10), GWAS and all replications combined). Additionally, in the combined analysis of the Italian series, suggestive associations were attained with rs10238549 and rs7800391 in IMMP2L (OR = 1.27, P = 4.1 × 10(-6) and OR = 1.25, P = 5.7 × 10(-6)), rs7617304 in RARRES1 (OR =1.25, P = 4.6 × 10(-5)) and rs10781500 in SNAPC4/CARD9 (OR = 1.23, P = 3.5 × 10(-5)).Conclusions:Our findings provide further insights into the genetic and biological basis of inherited genetic susceptibility to DTC. Further studies are needed to determine the role of the identified polymorphisms in the development of DTC and their possible use in the clinical practice.},
  author       = {Köhler, Aleksandra and Chen, Bowang and Gemignani, Federica and Elisei, Rossella and Romei, Cristina and Figlioli, Gisella and Cipollini, Monica and Cristaudo, Alfonso and Bambi, Franco and Hoffmann, Per and Herms, Stefan and Kalemba, Michal and Kula, Dorota and Harris, Shelley and Broderick, Peter and Houlston, Richard and Pastor, Susana and Marcos, Ricard and Velázquez, Antonia and Jarzab, Barbara and Hemminki, Kari and Landi, Stefano and Försti, Asta},
  issn         = {1945-7197},
  language     = {eng},
  number       = {10},
  pages        = {1674--1681},
  publisher    = {The Endocrine Society},
  series       = {Journal of Clinical Endocrinology and Metabolism},
  title        = {Genome-wide association study on differentiated thyroid cancer.},
  url          = {http://dx.doi.org/10.1210/jc.2013-1941},
  volume       = {98},
  year         = {2013},
}