Rheumatology Advance Access originally published online on July 11, 2006
Rheumatology 2007 46(2):215-219; doi:10.1093/rheumatology/kel205
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Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout
1Rheumatology Service, Hospital General de México, 2Facultad de Medicina, Universidad Nacional Autónoma de México, 3Hematology Service and 4Department of Genetics, Hospital General de México and 5Department of Molecular Biology and Genetics, Centro de Investigación y Estudios Avanzados (CINVESTAV), Instituto Politécnico Nacional, Mexico
Correspondence to: J. Vázquez-Mellado, Servicio de Reumatología, Hospital General de México. Dr Balmis 148, Colonia Doctores, Mexico City, C.P. 06726. México. E-mail: jvazquezmellado{at}prodigy.net.mx
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Abstract |
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Objective. To analyse the SLC22A12 (URAT1) gene in primary gout patients, first-grade relatives and healthy controls and the possible association of them with demographic and clinical data.
Subjects and Methods. We included 69 consecutive patients with diagnosis of primary gout, as well as 29 first-grade relatives and 120 healthy volunteers. Demographic and clinical data were obtained from the patients and relatives. DNA was purified from peripheral blood and all 10 exons of the SLC22A12 (URAT1) gene were sequenced.
Results. We found six different mutations in the SLC22A12 gene in 16 out of 69 (23%) patients with primary gout. Five mutations were in exon 5 and one in exon 4; five out of six mutations were heterozygous (one compound heterozygous) and one homozygous. The C850G mutation (exon 5) was found in 11 gout patients, these patients have lower levels of triglycerides than the rest of the group: 160 ± 56 vs 292 ± 203 mg/dl (P = 0.038). In one family, we found SLC22A12 mutations in three relatives within exon 5. We did not find mutations in the other exons studied (1–3 and 6–10), nor in any of the 10 exons of the 120 healthy volunteers.
Conclusions. We found several mutations in SLC22A12 gene associated with primary gout, the definite role of these mutations in URAT1 activity needs to be further studied.
KEY WORDS: Gout, URAT1, Uric acid, SLC22A12
Submitted 28 November 2005;
revised version accepted 12 May 2006.
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  J Vazquez-Mellado, V Alvarado-Romano, R Burgos-Vargas, A L Jimenez-Vaca, G Pozo-Molina, and S A Cuevas-Covarrubias Homozygous frameshift mutation in the SLC22A12 gene in a patient with primary gout and high levels of serum uric acid J. Clin. Pathol., August 1, 2007; 60(8): 947 - 948. [Full Text] [PDF]
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