Prevalence and functional analysis of the S107P polymorphism (rs6647476) of the monocarboxylate transporter 8 (SLC16A2) gene in the male population of north-west Spain (Galicia)

Clinical Endocrinology
Ramón Lago-LestónLourdes Domínguez-Gerpe

Abstract

Mutations in SLC16A2, the gene encoding the thyroid hormone (TH)-specific transporter monocarboxylate transporter 8 (MCT8), result in a thyroid phenotype and severe mental retardation caused by neuronal TH deficiency. These mutational effects raise the question of whether polymorphic variation in SLC16A2 may also be associated with differences in serum levels of TH and/or TSH. This is the first major study of the frequency of the SLC16A2 rs6647476 single nucleotide polymorphism (SNP) (amino acid change Ser107Pro). We also studied the relationships of SLC16A2 genetic variants with serum levels of TSH, T4 and T3, with their mRNA expression and with expression of the TH-responsive genes ZAKI-4 and BTEB in white blood cells. Experiments in cultured fibroblasts were carried out to ascertain the dynamics of the T3 response. A total of 276 men were studied. Genotyping of the S107P SNP was carried out using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP); serum hormone levels were determined by chemiluminescence; expression of mRNA was quantified by real-time PCR. The SLC16A2 S107P SNP was found in 36% of Galician males. With the present sample size we did not find any association of this polymorphism with...Continue Reading

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Citations

Aug 28, 2013·Clinica Chimica Acta; International Journal of Clinical Chemistry·Greet L RoefYouri E Taes
Mar 10, 2015·Endocrine Reviews·Marco MediciRobin P Peeters
Nov 23, 2019·Endocrine Reviews·Stefan GroenewegW Edward Visser
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Mar 3, 2019·Journal of Human Genetics·Ivana GunjačaMaja Barbalić

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