Back to Search Start Over

Genome-Wide Association Study Reveals Distinct Genetic Susceptibility of Thyroid Nodules From Thyroid Cancer.

Authors :
Hwangbo Y
Lee EK
Son HY
Im SW
Kwak SJ
Yoon JW
Kim MJ
Kim J
Choi HS
Ryu CH
Lee YJ
Kim JI
Cho NH
Park YJ
Source :
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2018 Dec 01; Vol. 103 (12), pp. 4384-4394.
Publication Year :
2018

Abstract

Context: Thyroid nodules are very common, and 7% to 15% of them are diagnosed as thyroid cancer. However, the inherited genetic risk factors for thyroid nodules and their associations with thyroid cancer remain unknown.<br />Objective: To identify the genetic variants associated with susceptibility to thyroid nodules in comparison with thyroid cancer.<br />Design and Setting: We performed a three-stage genome-wide association study for thyroid nodules. The discovery stage involved a genome-wide scan of 811 subjects with thyroid nodules and 691 subjects with a normal thyroid from a population-based cohort. Replication studies were conducted in an additional 1981 cases and 3100 controls from the participants of a health checkup. We also performed expression quantitative trait loci analysis of public data.<br />Results: The most robust association was observed in TRPM3 (rs4745021) in the joint analysis (OR, 1.26; P = 6.12 × 10-8) and meta-analysis (OR, 1.28; P = 2.11 × 10-8). Signals at MBIP/NKX2-1 were replicated but did not reach genome-wide significance in the joint analysis (rs2415317, P = 4.62 × 10-5; rs944289, P = 8.68 × 10-5). The expression quantitative trait loci analysis showed that TRPM3 expression was associated with the rs4745021 genotype in thyroid tissues.<br />Conclusions: To the best of our knowledge, we have performed the first genome-wide association study of thyroid nodules and identified a susceptibility locus associated with thyroid nodules, suggesting that thyroid nodules have a genetic predisposition distinct from that of thyroid cancer.

Details

Language :
English
ISSN :
1945-7197
Volume :
103
Issue :
12
Database :
MEDLINE
Journal :
The Journal of clinical endocrinology and metabolism
Publication Type :
Academic Journal
Accession number :
30099483
Full Text :
https://doi.org/10.1210/jc.2017-02439