PMID- 29947174
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20191120
IS  - 2093-596X (Print)
IS  - 2093-5978 (Electronic)
IS  - 2093-596X (Linking)
VI  - 33
IP  - 2
DP  - 2018 Jun
TI  - Genome-Wide Association Studies of Autoimmune Thyroid Diseases, Thyroid Function, 
      and Thyroid Cancer.
PG  - 175-184
LID - 10.3803/EnM.2018.33.2.175 [doi]
AB  - Thyroid diseases, including autoimmune thyroid diseases and thyroid cancer, are 
      known to have high heritability. Family and twin studies have indicated that 
      genetics plays a major role in the development of thyroid diseases. Thyroid 
      function, represented by thyroid stimulating hormone (TSH) and free thyroxine 
      (T4), is also known to be partly genetically determined. Before the era of 
      genome-wide association studies (GWAS), the ability to identify genes responsible 
      for susceptibility to thyroid disease was limited. Over the past decade, GWAS 
      have been used to identify genes involved in many complex diseases, including 
      various phenotypes of the thyroid gland. In GWAS of autoimmune thyroid diseases, 
      many susceptibility loci associated with autoimmunity (human leukocyte antigen 
      [HLA], protein tyrosine phosphatase, non-receptor type 22 [PTPN22], cytotoxic 
      T-lymphocyte associated protein 4 [CTLA4], and interleukin 2 receptor subunit 
      alpha [IL2RA]) or thyroid-specific genes (thyroid stimulating hormone receptor 
      [TSHR] and forkhead box E1 [FOXE1]) have been identified. Regarding thyroid 
      function, many susceptibility loci for levels of TSH and free T4 have been 
      identified through genome-wide analyses. In GWAS of differentiated thyroid 
      cancer, associations at FOXE1, MAP3K12 binding inhibitory protein 1 (MBIP)-NK2 
      homeobox 1 (NKX2-1), disrupted in renal carcinoma 3 (DIRC3), neuregulin 1 (NRG1), 
      and pecanex-like 2 (PCNXL2) have been commonly identified in people of European 
      and Korean ancestry, and many other susceptibility loci have been found in 
      specific populations. Through GWAS of various thyroid-related phenotypes, many 
      susceptibility loci have been found, providing insights into the pathogenesis of 
      thyroid diseases and disease co-clustering within families and individuals.
CI  - Copyright (c) 2018 Korean Endocrine Society.
FAU - Hwangbo, Yul
AU  - Hwangbo Y
AUID- ORCID: 0000-0001-7129-2133
AD  - Center for Thyroid Cancer, National Cancer Center, Goyang, Korea.
FAU - Park, Young Joo
AU  - Park YJ
AUID- ORCID: 0000-0002-3671-6364
AD  - Department of Internal Medicine, Seoul National University College of Medicine, 
      Seoul, Korea. yjparkmd@snu.ac.kr.
LA  - eng
PT  - Journal Article
PT  - Review
PL  - Korea (South)
TA  - Endocrinol Metab (Seoul)
JT  - Endocrinology and metabolism (Seoul, Korea)
JID - 101554139
PMC - PMC6021314
OTO - NOTNLM
OT  - Genome-wide association study
OT  - Graves disease
OT  - Hashimoto disease
OT  - Thyroid function
OT  - Thyroid neoplasms
COIS- No potential conflict of interest relevant to this article was reported.
EDAT- 2018/06/28 06:00
MHDA- 2018/06/28 06:01
PMCR- 2018/06/01
CRDT- 2018/06/28 06:00
PHST- 2018/05/03 00:00 [received]
PHST- 2018/05/08 00:00 [revised]
PHST- 2018/05/14 00:00 [accepted]
PHST- 2018/06/28 06:00 [entrez]
PHST- 2018/06/28 06:00 [pubmed]
PHST- 2018/06/28 06:01 [medline]
PHST- 2018/06/01 00:00 [pmc-release]
AID - 33.175 [pii]
AID - 10.3803/EnM.2018.33.2.175 [doi]
PST - ppublish
SO  - Endocrinol Metab (Seoul). 2018 Jun;33(2):175-184. doi: 10.3803/EnM.2018.33.2.175.