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Minimal Invasive Resection of Large Retrosternal Thyroid Goiter
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An InDel in Phospholipase-C-B-1 Is Linked with Euthyroid Multinodular Goiter.

Ameen D Bakhsh1, Ioannis Ladas1, Marian L Hamshere2

  • 11 Division of Infection and Immunity, Cardiff University , Cardiff, United Kingdom .

Thyroid : Official Journal of the American Thyroid Association
|June 14, 2018
PubMed
Summary

Genetic variations in the PLCB1 gene are linked to multinodular goiter (MNG). An intronic InDel in PLCB1 may predispose individuals to MNG and potentially papillary thyroid carcinoma (PTC).

Keywords:
copy-number variationgenome-wide linkage analysismultinodular goiternext-generation sequencing

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Area of Science:

  • Genetics
  • Endocrinology
  • Molecular Biology

Background:

  • Multinodular goiter (MNG) is common, yet its genetic predisposition is poorly understood.
  • A family with early-onset MNG and associated papillary thyroid carcinoma (PTC) was previously identified.

Purpose of the Study:

  • To identify genetic variations associated with MNG predisposition.
  • To investigate the role of identified variants in familial and sporadic MNG.

Main Methods:

  • Genome-wide linkage analysis and next-generation sequencing were employed.
  • Copy number variation analysis identified a specific intronic InDel in the PLCB1 gene.
  • The identified InDel was genotyped in Caucasian cohorts with MNG and PTC.

Main Results:

  • An intronic InDel in the PLCB1 gene was found in all affected family members and carriers.
  • This InDel was significantly more frequent in unrelated MNG patients compared to controls.
  • PLCB1 transcript levels were elevated in thyroids with the InDel, suggesting a functional impact.

Conclusions:

  • The intronic PLCB1 InDel is the first identified variant in familial MNG and a subset of sporadic MNG.
  • This variant may contribute to MNG through overexpression and increased PLC activity.
  • The PLCB1 InDel could serve as a biomarker for MNG progression to PTC.