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Genome-Wide Association Study Reveals Distinct Genetic Susceptibility of Thyroid Nodules From Thyroid Cancer.
- 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.
- Subjects :
- Adult
Cohort Studies
Female
Gene Frequency
Genome-Wide Association Study
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide
Prevalence
Quantitative Trait Loci genetics
Republic of Korea epidemiology
Thyroid Gland diagnostic imaging
Thyroid Neoplasms diagnosis
Thyroid Neoplasms epidemiology
Thyroid Nodule diagnosis
Thyroid Nodule epidemiology
Thyroid Nuclear Factor 1 genetics
Biomarkers, Tumor genetics
Genetic Predisposition to Disease
TRPM Cation Channels genetics
Thyroid Neoplasms genetics
Thyroid Nodule genetics
Subjects
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