{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T04:25:18Z","timestamp":1783484718963,"version":"3.55.0"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2008,8,15]],"date-time":"2008-08-15T00:00:00Z","timestamp":1218758400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2009,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:bold>Objective\u2002<\/jats:bold> Mutations in <jats:italic>SLC16A2<\/jats:italic>, the gene encoding the thyroid hormone (TH)\u2010specific transporter monocarboxylate transporter\u00a08 (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 <jats:italic>SLC16A2<\/jats:italic> may also be associated with differences in serum levels of TH and\/or TSH.<\/jats:p><jats:p><jats:bold>Design\u2002<\/jats:bold> This is the first major study of the frequency of the <jats:italic>SLC16A2<\/jats:italic> rs6647476 single nucleotide polymorphism (SNP) (amino acid change Ser107Pro). We also studied the relationships of <jats:italic>SLC16A2<\/jats:italic> genetic variants with serum levels of TSH, T4 and T3, with their mRNA expression and with expression of the TH\u2010responsive genes <jats:italic>ZAKI\u20104<\/jats:italic> and <jats:italic>BTEB <\/jats:italic>in white blood cells. Experiments in cultured fibroblasts were carried out to ascertain the dynamics of the T3 response.<\/jats:p><jats:p><jats:bold>Methods\u2002<\/jats:bold> A total of 276 men were studied. Genotyping of the S107P SNP was carried out using polymerase chain reaction restriction fragment length polymorphism (PCR\u2010RFLP); serum hormone levels were determined by chemiluminescence; expression of mRNA was quantified by real\u2010time PCR.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> The <jats:italic>SLC16A2<\/jats:italic>\u00a0S107P SNP was found in 36% of Galician males. With the present sample size we did not find any association of this polymorphism with variability in serum levels of TSH, free T4 (fT4) or fT3, or with basal expression of mRNA for <jats:italic>SLC16A2<\/jats:italic> or the two TH\u2010responsive genes <jats:italic>ZAKI\u20104<\/jats:italic> and <jats:italic>BTEB<\/jats:italic>, either in white blood cells or in cultured human fibroblasts from either Ser107 or Pro107 genotypes under T3 stimulation.<\/jats:p><jats:p><jats:bold>Conclusions\u2002<\/jats:bold> The S107P change in MCT8 is frequent in the male population in Galicia. In the population studied in this report an association with a thyroid phenotype was not demonstrated, even though the S107P SNP causes an important amino acid change.<\/jats:p>","DOI":"10.1111\/j.1365-2265.2008.03377.x","type":"journal-article","created":{"date-parts":[[2008,8,15]],"date-time":"2008-08-15T10:23:17Z","timestamp":1218795797000},"page":"636-643","source":"Crossref","is-referenced-by-count":13,"title":["Prevalence and functional analysis of the S107P polymorphism (rs6647476) of the monocarboxylate transporter\u00a08 (<i>SLC16A2<\/i>) gene in the male population of north\u2010west Spain (Galicia)"],"prefix":"10.1111","volume":"70","author":[{"given":"Ram\u00f3n","family":"Lago\u2010Lest\u00f3n","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda\u2010Jos\u00e9","family":"Iglesias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"San\u2010Jos\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Areal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adolfo","family":"Eiras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Ara\u00fajo\u2010Vilar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joaqu\u00edn","family":"Lado\u2010Abeal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lourdes","family":"Dom\u00ednguez\u2010Gerpe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,3,3]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.7.1133"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M300909200"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)17226-7"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1086\/380999"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncpendmet0262"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2006.03.042"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2007.03.005"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI28253"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1210\/en.2006-0390"},{"key":"e_1_2_6_11_2","first-page":"883","article-title":"Study of a possible association between serum levels of T4, T3 or TSH and the SNP S33P of the monocarboxylate transporter 8 (MCT8)","volume":"16","author":"Dominguez\u2010Gerpe L.","year":"2006","journal-title":"Thyroid"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2007.03.006"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-1768"},{"key":"e_1_2_6_14_2","first-page":"373","article-title":"World Medical Association Declaration of Helsinki","volume":"79","author":"World Medical Association","year":"2001","journal-title":"Bulletin of the World Health Organization"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1006\/meth.2001.1262"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1159\/000106824"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2007.04.001"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1042\/BST0330228"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2007.03.004"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-008-0029-9"},{"key":"e_1_2_6_21_2","article-title":"Estudios sobre la expresi\u00f3n del transportador 8 de los monocarboxilatos (MCT8) en tejidos humanos. Papel de los glucocorticoides y AMP c\u00edclico en su regulaci\u00f3n (Expression studies of monocarboxylate transporter 8 (MCT8) in human tissues. Role of glucocorticoids and cyclic AMP in its regulation","volume":"53","author":"P\u00e9rez\u2010Guerra O.","year":"2006","journal-title":"Endocrinolog\u00eda y Nutrici\u00f3n"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.05.012"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1086\/431313"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-1247"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.07.008"},{"key":"e_1_2_6_26_2","doi-asserted-by":"publisher","DOI":"10.1517\/17425255.4.1.51"}],"container-title":["Clinical Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2265.2008.03377.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-2265.2008.03377.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T14:40:34Z","timestamp":1697208034000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-2265.2008.03377.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,3]]},"references-count":25,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,4]]}},"alternative-id":["10.1111\/j.1365-2265.2008.03377.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-2265.2008.03377.x","archive":["Portico"],"relation":{},"ISSN":["0300-0664","1365-2265"],"issn-type":[{"value":"0300-0664","type":"print"},{"value":"1365-2265","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3,3]]}}}