Genome-Wide Association Studies of Autoimmune Thyroid Diseases, Thyroid Function, and Thyroid Cancer

[helvella]

For years we have known of research into thyroid-related genes - and here is a potentially important paper which identifies where we are now. Nothing obviously original but we need summaries from time to time.

Endocrinol Metab. 2018 Jun;33(2):175-184. English.

Published online Jun 21, 2018. doi.org/10.3803/EnM.2018.33...

Copyright © 2018 Korean Endocrine Society

Genome-Wide Association Studies of Autoimmune Thyroid Diseases, Thyroid Function, and Thyroid Cancer

Yul Hwangbo,1 and Young Joo Park 2

1Center for Thyroid Cancer, National Cancer Center, Goyang, Korea.

2Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.

Abstract

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.

Keywords:

Genome-wide association study; Graves disease; Hashimoto disease; Thyroid neoplasms; Thyroid function

Full paper, including links to downloadable tables, freely available here:

e-enm.org/DOIx.php?id=10.38...

[Hidden]

Thank you I needed something to attract my attention this morning, I am having a really bad week.

[cwill]

Very interesting thank you. Thank goodness for free to access papers.

[silverfox7]

If only there weren't so many variables and we could all sing from the same hymn sheet! Sadly many doctors think one size fits all!