Association of intronic repetition of SLC26A4 gene with Hashimoto thyroiditis disease.

Intronic microsatellites repeats were implicated in the pathogenic mechanisms of several diseases. SLC26A4 gene, involved in the genetic susceptibility of autoimmune thyroid disease (AITD), harbours large non-coding introns. Using the tandem repeat finder (TRF) Software, two new polymorphic microsatellite markers, rs59736472 and rs57250751, located at introns 10 and 20, respectively, were identified.

SLC26A4 variations among Graves' hyper-functioning thyroid gland.

Deleterious mutations of SLC26A4 cause Pendred syndrome (PS), an autosomal recessive disorder comprising goitre and deafness with enlarged vestibular aqueducts (EVA), and nonsyndromic hearing loss (NSHL). However, the SLC26A4 hyperactivity was recently associated with the emergence of autoimmune thyroid diseases (AITD) and asthma among human and mouse model. Here, by direct sequencing, we investigate the sequences of the 20 coding exons (2 to 21) of SLC26A4 and their flanking intron-exon junctions among patients affected with Graves' disease (GD) hyperthyroidism.

Genetic investigation of FOXE1 polyalanine tract in thyroid diseases: new insight on the role of FOXE1 in thyroid carcinoma.

FOXE1 polyalanine tract (poly-Ala) has been associated with thyroid dysgenesis. Recently, the SNP (rs1867277:-238G>A) within the FOXE1 5'UTR was involved in the genetic susceptibility to thyroid cancer (TC). In the aim to assess the influence of FOXE1 poly-Ala length on the genetic susceptibility to TC and autoimmune thyroid diseases (AITD), a case-control design (including 261 Tunisian AITD, 170 Spanish TC and respectively 171 and 218 matched healthy subjects) was performed.