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Fine mapping of loci linked to autoimmune thyroid disease identifies novel susceptibility genes.
J Clin Endocrinol Metab. 2013 Jan; 98(1):E144-52.JC

Abstract

CONTEXT

Genetic factors play a major role in the etiology of autoimmune thyroid disease (AITD) including Graves' disease (GD) and Hashimoto's thyroiditis (HT). We have previously identified three loci on chromosomes 10q, 12q, and 14q that showed strong linkage with AITD, HT, and GD, respectively.

OBJECTIVES

The objective of the study was to identify the AITD susceptibility genes at the 10q, 12q, and 14q loci.

DESIGN AND PARTICIPANTS

Three hundred forty North American Caucasian AITD patients and 183 healthy controls were studied. The 10q, 12q, and 14q loci were fine mapped by genotyping densely spaced single-nucleotide polymorphisms (SNPs) using the Illumina GoldenGate genotyping platform. Case control association analyses were performed using the UNPHASED computer package. Associated SNPs were reanalyzed in a replication set consisting of 238 AITD patients and 276 controls.

RESULTS

Fine mapping of the AITD locus, 10q, showed replicated association of the AITD phenotype (both GD and HT) with SNP rs6479778. This SNP was located within the ARID5B gene recently reported to be associated with rheumatoid arthritis and GD in Japanese. Fine mapping of the GD locus, 14q, revealed replicated association of the GD phenotype with two markers, rs12147587 and rs2284720, located within the NRXN3 and TSHR genes, respectively.

CONCLUSIONS

Fine mapping of three linked loci identified novel susceptibility genes for AITD. The discoveries of new AITD susceptibility genes will engender a new understanding of AITD etiology.

Authors+Show Affiliations

Department of Medicine, Division of Endocrinology, Mount Sinai School of Medicine, New York, New York 10029, USA. yaron.tomer@mssm.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, U.S. Gov't, Non-P.H.S.

Language

eng

PubMed ID

23118423

Citation

Tomer, Yaron, et al. "Fine Mapping of Loci Linked to Autoimmune Thyroid Disease Identifies Novel Susceptibility Genes." The Journal of Clinical Endocrinology and Metabolism, vol. 98, no. 1, 2013, pp. E144-52.
Tomer Y, Hasham A, Davies TF, et al. Fine mapping of loci linked to autoimmune thyroid disease identifies novel susceptibility genes. J Clin Endocrinol Metab. 2013;98(1):E144-52.
Tomer, Y., Hasham, A., Davies, T. F., Stefan, M., Concepcion, E., Keddache, M., & Greenberg, D. A. (2013). Fine mapping of loci linked to autoimmune thyroid disease identifies novel susceptibility genes. The Journal of Clinical Endocrinology and Metabolism, 98(1), E144-52. https://doi.org/10.1210/jc.2012-2408
Tomer Y, et al. Fine Mapping of Loci Linked to Autoimmune Thyroid Disease Identifies Novel Susceptibility Genes. J Clin Endocrinol Metab. 2013;98(1):E144-52. PubMed PMID: 23118423.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fine mapping of loci linked to autoimmune thyroid disease identifies novel susceptibility genes. AU - Tomer,Yaron, AU - Hasham,Alia, AU - Davies,Terry F, AU - Stefan,Mihaela, AU - Concepcion,Erlinda, AU - Keddache,Mehdi, AU - Greenberg,David A, Y1 - 2012/11/01/ PY - 2012/11/3/entrez PY - 2012/11/3/pubmed PY - 2013/3/8/medline SP - E144 EP - 52 JF - The Journal of clinical endocrinology and metabolism JO - J. Clin. Endocrinol. Metab. VL - 98 IS - 1 N2 - CONTEXT: Genetic factors play a major role in the etiology of autoimmune thyroid disease (AITD) including Graves' disease (GD) and Hashimoto's thyroiditis (HT). We have previously identified three loci on chromosomes 10q, 12q, and 14q that showed strong linkage with AITD, HT, and GD, respectively. OBJECTIVES: The objective of the study was to identify the AITD susceptibility genes at the 10q, 12q, and 14q loci. DESIGN AND PARTICIPANTS: Three hundred forty North American Caucasian AITD patients and 183 healthy controls were studied. The 10q, 12q, and 14q loci were fine mapped by genotyping densely spaced single-nucleotide polymorphisms (SNPs) using the Illumina GoldenGate genotyping platform. Case control association analyses were performed using the UNPHASED computer package. Associated SNPs were reanalyzed in a replication set consisting of 238 AITD patients and 276 controls. RESULTS: Fine mapping of the AITD locus, 10q, showed replicated association of the AITD phenotype (both GD and HT) with SNP rs6479778. This SNP was located within the ARID5B gene recently reported to be associated with rheumatoid arthritis and GD in Japanese. Fine mapping of the GD locus, 14q, revealed replicated association of the GD phenotype with two markers, rs12147587 and rs2284720, located within the NRXN3 and TSHR genes, respectively. CONCLUSIONS: Fine mapping of three linked loci identified novel susceptibility genes for AITD. The discoveries of new AITD susceptibility genes will engender a new understanding of AITD etiology. SN - 1945-7197 UR - https://www.unboundmedicine.com/medline/citation/23118423/Fine_mapping_of_loci_linked_to_autoimmune_thyroid_disease_identifies_novel_susceptibility_genes_ L2 - https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.2012-2408 DB - PRIME DP - Unbound Medicine ER -