Browse

Genome-wide association study of thyroid nodules in Koreans suggests overlapping susceptibility loci between thyroid cancer and thyroid nodules
한국인에서 전장 유전체 연관 분석을 통한 갑상선 암과 갑상선 결절의 공통 감수성 유전자좌 연구

Cited 0 time in Web of Science Cited 0 time in Scopus
Authors
황보율
Advisor
박도준
Major
의과대학 의학과
Issue Date
2015-08
Publisher
서울대학교 대학원
Keywords
Thyroid noduleGenome wide association studyThyroid cancerThyroid ultrasonography
Description
학위논문 (석사)-- 서울대학교 대학원 : 의학과(중개의학), 2015. 8. 박도준.
Abstract
Background
Genome-wide association studies (GWASs) are widely used in human genetics to identify genes associated with various cancers. Several susceptibility loci of differentiated thyroid cancer (DTC) have been identified by GWASs (FOXE1, NKX2-1, DIRC3, NRG1, IMMP2L, RARRES1, and SNAPC4/CARD9). However, the relationship of these genetic markers with thyroid nodules has not been evaluated. Additionally, susceptibility loci of thyroid nodules have not been identified.
Objective
Our objective was to identify candidate loci that play a role in thyroid nodules by discovery GWAS.
Methods
We conducted a one-stage case-control GWAS for thyroid nodules in a population-based cohort. Individuals from the Ansung cohort underwent an initial thyroid ultrasonography and a follow-up 2 years later. Additionally, these individuals were evaluated using 1.43 million genotyped or imputed markers. In the two ultrasonographies, 809 individuals showed solid thyroid nodules in both ultrasonographies, while 689 subjects showed normal thyroids in both. We performed logistic regression adjusting for age and sex.

Results
Case-control comparisons identified two independent association signals (P < 1.0 × 10-5): a SNP at 18p11.31 in EPB41L3 (OR = 1.647, P = 2.09 × 10-7) and at 10p11.22 in ITGB1 (OR = 1.645, P = 5.85 × 10-6). In 13 additional suggestive signals (loci with single-point P values between 1.0 × 10-5 and 5.0 × 10-5), SNPs were located near NKX2-1 and RARRES1, which are known thyroid cancer susceptibility loci.
Conclusion
We found candidate susceptibility loci for thyroid nodules in a one-stage GWAS. Our findings suggest that thyroid nodules and thyroid cancer share a common genetic etiology.
Language
English
URI
https://hdl.handle.net/10371/132787
Files in This Item:
Appears in Collections:
College of Medicine/School of Medicine (의과대학/대학원)Dept. of Medicine (의학과)Theses (Master's Degree_의학과)
  • mendeley

Items in S-Space are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse