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Patrick W Owens Discipline of Surgery, Lambe Institute for Translational Research, School of Medicine, National University of Ireland, Galway, Ireland

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Terri Patricia McVeigh Cancer Genetics Unit Royal Marsden NHS Foundation Trust, London, England

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Nicola Miller Discipline of Surgery, Lambe Institute for Translational Research, School of Medicine, National University of Ireland, Galway, Ireland

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Carole Guerin Department of Endocrine Surgery Centre hospitalo-universitaire de La Conception, Assistance Publique Hôpitaux de Marseille, Marseille, France

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Frederic Sebag Department of Endocrine Surgery Centre hospitalo-universitaire de La Conception, Assistance Publique Hôpitaux de Marseille, Marseille, France

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Denis Quill Discipline of Surgery, Lambe Institute for Translational Research, School of Medicine, National University of Ireland, Galway, Ireland

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Marcia Bell Department of Endocrinology, School of Medicine, National University of Ireland, Galway, Ireland

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Michael J Kerin Discipline of Surgery, Lambe Institute for Translational Research, School of Medicine, National University of Ireland, Galway, Ireland

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Aoife J Lowery Discipline of Surgery, Lambe Institute for Translational Research, School of Medicine, National University of Ireland, Galway, Ireland

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Objective

FOXE1 is an intronless gene on chromosome 9 which plays a significant role in thyroid morphogenesis. Mutations in FOXE1 are associated with thyroid phenotypes including congenital hypothyroidism, thyroid dysgenesis and thyroid cancer. This study aims to investigate the frequency and impact of a SNP (rs965513, G>A) at 9q22.23 in a Western European cohort of patients with differentiated thyroid cancer(DTC), compared to controls.

Design

This is a candidate gene case control study.

Methods

277 patients with histologically confirmed DTC were recruited from tertiary referral centres in Ireland and France. 309 cancer-free controls were recruited from the community. DNA was extracted from buccal swabs or whole blood of control subjects and patients with DTC. Allelic and genotypic frequencies among patients were compared with controls, to assess the risk for disease conferred by homozygous and heterozygous carriers compared to WT genotypes. Genotyping was performed using Taqman-based PCR.

Results

277 patients with confirmed DTC and 309 non-cancer controls were genotyped for the variant (rs965513). The frequency of the minor allele among cases was 0.45 compared to 0.34 among controls. The genotypic odds ratio for heterozygotes was 1.66 (CI 1.16–2.39, P =0.00555), increasing to 2.93 (CI 1.70–5.05, P =0.00007) for rare homozygotes. All subjects were in Hardy-Weinberg equilibrium (±χ 2, P =0.09, P =0.07 respectively).

Conclusions

This FOXE1 polymorphism is a low penetrance variant associated with DTC susceptibility in this cohort. The minor allele was identified among patients with thyroid cancer significantly more frequently than controls. An allele dosage effect was observed, with rare homozygous genotypes conferring greater risk than heterozygotes.

Open access