ArticleHuman genetics2007
Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis.
Article in Human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.
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Who cites it
29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 69 citations in OpenAlex.
- Common genetic variants on FOXE1 contributes to thyroid cancer susceptibility: evidence based on 16 studies.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Pooled it
- Quantitative assessment of common genetic variants on FOXE1 and differentiated thyroid cancer risk.PloS one · 2014Pooled it
- Molecular Genetics of Primary Congenital Hypothyroidism: Established and Emerging Contributors to Thyroid Dysgenesis.International journal of molecular sciences · 2025Review
- Genetics of primary congenital hypothyroidism: three decades of discoveries and persisting etiological challenges.European thyroid journal · 2025Review
- The association of the FOXE1 polyalanine tract length with the occurrence of premature ovarian insufficiency in the Greek population: A pilot, case-control study.Turkish journal of obstetrics and gynecology · 2025Article
- Forkhead box E1, frequently downregulted by promoter methylation, inhibits colorectal cancer cell growth and migration.Cancer cell international · 2024Article
- Disruption of theFrontiers in cell and developmental biology · 2023Article
- The length of FOXE1 polyalanine tract in congenital hypothyroidism: Evidence for a pathogenic role from familial, molecular and cohort studies.Frontiers in endocrinology · 2023Article
- Genetics of congenital hypothyroidism: Modern concepts.Pediatric investigation · 2022Review
- Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants inChildren (Basel, Switzerland) · 2021Article
- New genetics in congenital hypothyroidism.Endocrine · 2021Review
- Unraveling the Complex Interplay Between Transcription Factors and Signaling Molecules in Thyroid Differentiation and Function, From Embryos to Adults.Frontiers in endocrinology · 2021Review
- FOXE1 regulates migration and invasion in thyroid cancer cells and targets ZEB1.Endocrine-related cancer · 2020Article
- Gene Variants inJournal of pediatric genetics · 2019Article
- TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.EMBO molecular medicine · 2018Article
- Rtfc (4931414P19Rik) Regulates in vitro Thyroid Differentiation and in vivo Thyroid Function.Scientific reports · 2017Article
- Mutations in BOREALIN cause thyroid dysgenesis.Human molecular genetics · 2017Article
- Article
- Does the Polymorphism in the Length of the Polyalanine Tract ofJournal of thyroid research · 2017Article
- Molecular genetics of thyroid cancer.Genetics research · 2016Review
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial cases of congenital hypothyroidism from thyroid dysgenesis (TD) (OMIM 218700) occur with a frequency 15-fold higher than by chance, FOXE1 is one of the candidate genes for this genetic predisposition and contains an alanine tract. Our purpose is to assess the influence of length of the alanine tract of FOXE1 on genetic susceptibility to TD. A case-control association study (based on 115 patients affected by TD and 129 controls genotyped by direct sequencing) and transmission disequilibrium testing (TDT) analyses were performed. The transcriptional activities of FOXE1 constructs containing 14 or 16 alanines were also studied. In the case-control association study, the 16/16 and 16/14 genotypes were inversely associated with TD (OR = 0.39, 95%CI = 0.22-0.68, P = 0.0005), strongly suggesting that the presence of 16 alanines in the tract protect against the occurrence of TD. This association was stronger in the subgroup of patients with ectopic thyroid (OR = 0.28, 95%CI = 0.13-0.58, P = 0.00015). The protection was confirmed by the TDT analysis performed in 39 trios (chi(2) = 4.3, P = 0.0374). Alternatively, the presence of the 14/14 genotype is associated with an increase risk of TD (OR = 2.59, 95%CI = 1.56-4.62, P = 0.0005). The expression studies showed that the transcriptional activities of FOXE1 with 16 alanines were significantly higher (1.55-fold) than FOXE1 containing 14 alanines (P < 0.003), while the nuclear localisation of the proteins was not affected. We conclude that FOXE1 through its alanine containing stretch modulates significantly the risk of TD occurrence, enhancing a mechanism linking an alanine containing transcription factor to disease.
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