Absence of SLC22A12 gene mutations in Greek Caucasian patients with primary renal hypouricaemia

Tzovaras, V.; Chatzikyriakidou, A.; Bairaktari, E.; Liberopoulos, E. N.; Georgiou, I.; Elisaf, M. S.

Absence of SLC22A12 gene mutations in Greek Caucasian patients with primary renal hypouricaemia

dc.contributor.author	Tzovaras, V.	en
dc.contributor.author	Chatzikyriakidou, A.	en
dc.contributor.author	Bairaktari, E.	en
dc.contributor.author	Liberopoulos, E. N.	en
dc.contributor.author	Georgiou, I.	en
dc.contributor.author	Elisaf, M. S.	en
dc.date.accessioned	2015-11-24T19:38:32Z
dc.date.available	2015-11-24T19:38:32Z
dc.identifier.issn	0036-5513	-
dc.identifier.uri	https://olympias.lib.uoi.gr/jspui/handle/123456789/24159
dc.rights	Default Licence	-
dc.subject	Adult	en
dc.subject	DNA Mutational Analysis	en
dc.subject	European Continental Ancestry Group	en
dc.subject	Female	en
dc.subject	Genetic Predisposition to Disease	en
dc.subject	Genotype	en
dc.subject	Greece	en
dc.subject	Humans	en
dc.subject	Kidney Diseases/blood/ethnology/genetics	en
dc.subject	Male	en
dc.subject	Middle Aged	en
dc.subject	*Mutation	en
dc.subject	Organic Anion Transporters/*genetics	en
dc.subject	Organic Cation Transport Proteins/*genetics	en
dc.subject	Phenotype	en
dc.subject	Uric Acid/*blood	en
dc.title	Absence of SLC22A12 gene mutations in Greek Caucasian patients with primary renal hypouricaemia	en
heal.abstract	OBJECTIVE: Primary renal hypouricaemia is a hereditary clinical disorder characterized by increased renal urate clearance due to isolated renal tubular defect of uric acid transport. There have been only a few studies on primary renal hypouricaemia in Caucasian populations. Defects in the SLC22A12 gene, which encodes the renal urate transporter URAT1, have been reported to be related to the disease pathogenesis. This study was undertaken to elucidate whether SLC22A12 gene mutations are responsible for low serum uric acid levels in Greek people. MATERIAL AND METHODS: Nine Greek Caucasian subjects with primary renal hypouricaemia were included in the study. All had serum uric acid less than 2.5 mg dL(-1) (0.14 mmol L(-1)), fractional excretion of uric acid more than 10% and no other known causes of hypouricaemia. Mutation analysis of the SLC22A12 gene was performed. RESULTS: No mutation was found--only the previously reported silent polymorphism 1246T > C (His 42His) in exon 2 of the SLC22A12 gene. CONCLUSIONS: No previously reported mutation of URAT1 was associated with primary renal hypouricaemia in Greek subjects.	en
heal.access	campus	-
heal.fullTextAvailability	TRUE	-
heal.identifier.primary	10.1080/00365510701222868	-
heal.identifier.secondary	http://www.ncbi.nlm.nih.gov/pubmed/17891652	-
heal.identifier.secondary	http://informahealthcare.com/doi/abs/10.1080/00365510701222868	-
heal.journalName	Scand J Clin Lab Invest	en
heal.journalType	peer-reviewed	-
heal.language	en	-
heal.publicationDate	2007	-
heal.recordProvider	Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής	el
heal.type	journalArticle	-
heal.type.el	Άρθρο Περιοδικού	el
heal.type.en	Journal article	en

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