FOXE1 polyalanine tract length polymorphism in patients with thyroid hemiagenesis and subjects with normal thyroid.

Abstract

BACKGROUND/AIMS:

Recent studies have pointed to the correlation between FOXE1 polyalanine tract (FOXE1-polyAla) length polymorphism and genetic susceptibility to thyroid dysgenesis causing congenital hypothyroidism. The objective of this study was a first assessment of the role of FOXE1-polyAla expansion in the genetic background of thyroid hemiagenesis (TH).

METHODS:

The group studied consisted of 40 patients with TH, including 6 familial cases and a control group of 89 subjects with a normal thyroid. The polyAla tract and flanking sequence of FOXE1 was amplified using conventional PCR. Subsequently, capillary electrophoresis was performed to estimate the length of products.

RESULTS:

A short variant of FOXE1-polyAla, containing 12 alanines, was present in 5 control subjects (5.6%), but was not found in TH. The incidence of longer variants (≥16 codons) of FOXE1-polyAla was significantly higher in patients with the familial form of TH in comparison to those with sporadic TH (p = 0.003) and controls (p = 0.005).

CONCLUSIONS:

There is high polymorphic variability of FOXE1-polyAla in both groups. Shorter variants of FOXE1-polyAla are underrepresented in subjects with familial TH. Therefore, FOXE1-polyAla tract expansion may contribute to the molecular background of familial but not sporadic forms of TH. Further studies are still required to confirm such findings.

• Authors: Ewelina Szczepanek, Marek Ruchala, Witold Szaflarski, Bartlomiej Budny, Lidia Kilinska, Malgorzata Jaroniec, Marek Niedziela, Maciej Zabel, Jerzy Sowinski
• Journal: Hormone research in paediatrics (Horm Res Paediatr) Vol. 75 Issue 5 Pg. 329-34 ( 2011) ISSN: 1663-2826 [Electronic] Switzerland
• PMID: 21311165 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2011 S. Karger AG, Basel.

Chemical References

• FOXE1 protein, human
• Forkhead Transcription Factors
• Peptides
• polyalanine

Topics

• Base Sequence
• Case-Control Studies
• Congenital Hypothyroidism (genetics)
• DNA Repeat Expansion (genetics)
• Family
• Female
• Forkhead Transcription Factors (genetics)
• Gene Frequency
• Genetic Predisposition to Disease
• Humans
• Male
• Molecular Sequence Data
• Peptides (genetics)
• Polymorphism, Genetic
• Thyroid Dysgenesis (genetics)
• Thyroid Gland (physiology)