{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T14:24:40Z","timestamp":1790864680719,"version":"4.1.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"2","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2009,2]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>Primary hyperparathyroidism (PHPT) is often complicated by kidney stones. Hypercalciuria and urine oxalate excretion are considered risk factors for urolithiasis in PHPT as well as in idiopathic stone-formers. Recently, the anion-exchanger SLC26A6 has been involved in the oxalate metabolism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design and methods<\/jats:title><jats:p>We tested the hypothesis that the 206M polymorphic variant of <jats:italic>SLC26A6<\/jats:italic> gene might contribute to the risk of kidney stones in PHPT. DNA samples from 145 PHPT patients and 129 age- and sex-matched healthy subjects were genotyped.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The homozygous 206V genotype was the most frequent both in PHPT patients and controls (79.3 and 74.4%), while heterozygosity for the 206M allele was detected in 20.0 and 23.3% respectively. The homozygous 206M genotype was extremely rare, occurring in 0.7 and 2.3% of PHPT and healthy subjects respectively. In the PHPT cohort, the prevalence of urolithiasis did not differ between the V\/V and V\/M+M\/M groups and urine oxalate excretions did not correlate with the genotype. Considering the subset of PHPT stone formers (<jats:italic>n<\/jats:italic>=74), calciuria was lower in V\/M+M\/M patients with respect to V\/V stone-formers (4.40\u00b11.88 vs 5.92\u00b12.62\u200amg\/kg per 24\u200ah; mean\u00b1<jats:sc>s.d.<\/jats:sc>, <jats:italic>P<\/jats:italic>=0.034). Finally, the <jats:italic>SLC26A6<\/jats:italic> 206M alleles were significantly related to the presence of hypertension (73.3 vs 47.8%), showing an OR of 4.8.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Though the <jats:italic>SLC26A6<\/jats:italic> 206M polymorphism did not correlate with kidney stone development in PHPT patients, PHPT stone-formers harbouring the M allele had a lower hypercalciuria. This observation and the high prevalence of hypertension associated with the 206M polymorphism need further investigation.<\/jats:p><\/jats:sec>","DOI":"10.1530\/eje-08-0623","type":"journal-article","created":{"date-parts":[[2008,11,25]],"date-time":"2008-11-25T01:48:59Z","timestamp":1227577739000},"page":"283-288","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":23,"title":["Analysis of the 206M polymorphic variant of the SLC26A6 gene encoding a Cl\u2212 oxalate transporter in patients with primary hyperparathyroidism"],"prefix":"10.1093","volume":"160","author":[{"given":"S","family":"Corbetta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Eller-Vainicher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Frigerio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Valaperta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Costa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Vicentini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Baccarelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Beck-Peccoz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Spada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/160\/2\/283.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/160\/2\/283.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:22:34Z","timestamp":1676391754000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/160\/2\/283\/6676195"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2]]},"references-count":0,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.1530\/eje-08-0623","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,2]]}}}