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Multiple single nucleotide polymorphisms in the human urate transporter 1 (hURAT1) gene are associated with hyperuricemia in Han Chinese
  1. Changgui Li1,
  2. Lin Han1,
  3. Albert M Levin2,
  4. Huaidong Song3,
  5. Shengli Yan1,
  6. Yao Wang1,
  7. Yunlong Wang1,
  8. Dongmei Meng1,
  9. Sensen lv1,
  10. Yan Ji1,
  11. Xiaochen Xu1,
  12. Xianxain Liu1,
  13. Yangang Wang1,
  14. Li Zhou2,
  15. Zhimin Miao1,
  16. Qing-Sheng Mi4,*
  1. 1 Medical School Hospital of Qingdao Universit, China;
  2. 2 Henry Ford health System, China;
  3. 3 Shanghai Jiaotong University Medical School, United States;
  4. 4 Henry Ford Health System, China
  1. Correspondence to: Qing-Sheng Mi, Immunology Program, Dermatology, and Medicine, Henry Ford Hospital, One Ford Place, 1D Rm31, Detroit, 48202, United States; qmi1{at}


Objective: The present study investigated whether single nucleotide polymorphisms (SNPs) in human urate transporter 1 (hURAT1) gene are associated with primary hyperuicemia (HUA) in Han Chinese people.

Methods: A total of 538 subjects (215 cases and 323 control subjects) were recruited from Qingdao, China. SNPs in potentially functional regions of the gene were identified and genotypes determined by direct sequencing. Association analyses were conducted using Fisher’s exact test and logistic regression assuming a genotype model.

Results: By sequencing the promoter, ten exons, and the exon-intron junctions of the hURAT1 gene, 14 SNPs were identified. Two of the SNPs identified were associated with susceptibility to HUA. The first was a rare intron 3 (11 G>A) SNP (p=0.0005), where carriers of the "A" allele had a 3.4 fold (95%CI: 1.67-6.93) increased risk of HUA. The second was a common exon 8 (T1309C) SNP (rs7932775), where carriers of one and two "C" alleles had respective fold increased risks of 1.64 (95%CI: 1.07-2.52) and 2.32 (95%CI: 1.37-3.95). These SNPs had a joint additive effect of risk of HUA, with those individuals carrying at least one "A" allele at the intron 3 SNP and two "C" alleles at rs7932775 had a 5.88 fold (95%CI:1.25-15.57) increased risk of HUA in comparison to those with no risk alleles.

Conclusion: Our results suggest that there are multiple genetic variants within or near hURAT1 that are associated with susceptibility to HUA in Han Chinese. We identified a novel SNP located in intron 3 that significantly increases risk of HUA in Han Chinese.

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