U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Uric acid concentration, serum, quantitative trait locus 1(UAQTL1)

MedGen UID:
330702
Concept ID:
C1841837
Finding
Synonyms: GOUT SUSCEPTIBILITY 1; UAQTL1
 
Gene (location): ABCG2 (4q22.1)
 
OMIM®: 138900

Definition

Gout is a common disorder resulting from tissue deposition of monosodium urate crystals as a consequence of hyperuricemia. Patients with gout experience very painful attacks caused by precipitation of urate in joints, which triggers subsequent inflammation. Elevated serum uric acid concentration is a key risk factor for gout (summary from Matsuo et al., 2009 and Woodward et al., 2011). Genetic Heterogeneity of Serum Uric Acid Concentration Quantitative Trait Loci See also UAQTL2 (see 612076), conferred by variation in the SLC2A9 gene (606142) on chromosome 4p16; UAQTL4 (612671), conferred by variation in the SLC17A3 gene (611034) on chromosome 6p22; UAQTL5 (614746), associated with a SNP on chromosome 19q13; UAQTL6 (614747), associated with a SNP on chromosome 1; and UAQTL7 (see 245450), caused by mutation in the LDHD gene (607490) on chromosome 16q23. [from OMIM]

Recent clinical studies

Etiology

Chittoor G, Kent JW Jr, Almeida M, Puppala S, Farook VS, Cole SA, Haack K, Göring HH, MacCluer JW, Curran JE, Carless MA, Johnson MP, Moses EK, Almasy L, Mahaney MC, Lehman DM, Duggirala R, Comuzzie AG, Blangero J, Voruganti VS
BMC Genomics 2016 Apr 2;17:276. doi: 10.1186/s12864-016-2594-5. PMID: 27039371Free PMC Article
Wei WH, Guo Y, Kindt AS, Merriman TR, Semple CA, Wang K, Haley CS
Hum Mol Genet 2014 Oct 1;23(19):5061-8. Epub 2014 May 12 doi: 10.1093/hmg/ddu227. PMID: 24821702Free PMC Article
Matsuo H, Takada T, Ichida K, Nakamura T, Nakayama A, Ikebuchi Y, Ito K, Kusanagi Y, Chiba T, Tadokoro S, Takada Y, Oikawa Y, Inoue H, Suzuki K, Okada R, Nishiyama J, Domoto H, Watanabe S, Fujita M, Morimoto Y, Naito M, Nishio K, Hishida A, Wakai K, Asai Y, Niwa K, Kamakura K, Nonoyama S, Sakurai Y, Hosoya T, Kanai Y, Suzuki H, Hamajima N, Shinomiya N
Sci Transl Med 2009 Nov 4;1(5):5ra11. doi: 10.1126/scitranslmed.3000237. PMID: 20368174

Clinical prediction guides

Chittoor G, Kent JW Jr, Almeida M, Puppala S, Farook VS, Cole SA, Haack K, Göring HH, MacCluer JW, Curran JE, Carless MA, Johnson MP, Moses EK, Almasy L, Mahaney MC, Lehman DM, Duggirala R, Comuzzie AG, Blangero J, Voruganti VS
BMC Genomics 2016 Apr 2;17:276. doi: 10.1186/s12864-016-2594-5. PMID: 27039371Free PMC Article
Yang B, Mo Z, Wu C, Yang H, Yang X, He Y, Gui L, Zhou L, Guo H, Zhang X, Yuan J, Dai X, Li J, Qiu G, Huang S, Deng Q, Feng Y, Guan L, Hu D, Zhang X, Wang T, Zhu J, Min X, Lang M, Li D, Hu FB, Lin D, Wu T, He M
BMC Med Genomics 2014 Feb 11;7:10. doi: 10.1186/1755-8794-7-10. PMID: 24513273Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...