Genetic analysis for uric acid handling in the kidney
| Project/Area Number |
17590849
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Kidney internal medicine
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| Research Institution | Jikei University School of Medicine |
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Principal Investigator |
KIMIYASHI Ichida Jikei University School of Medicine, School of Medicine, Assistant Professor (80183169)
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| Co-Investigator(Kenkyū-buntansha) |
HOSOYAMADA Makoto Kyoritsu University of Pharmacy, Pharmacology, Associate professor (00291659)
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| Project Period (FY) |
2005 – 2007
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| Project Status |
Completed (Fiscal Year 2007)
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| Budget Amount *help |
¥3,760,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥360,000)
Fiscal Year 2007: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2006: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 2005: ¥1,100,000 (Direct Cost: ¥1,100,000)
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| Keywords | Kidney / Uric acid / URAT1 / Hypouricemia / transporter / Oriein / 動態 |
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| Research Abstract |
Renal hypouricemia is an inherited disorder characterized by impaired tubular uric acid transport. Impairment of the function of URAT1, the main transporter for the reabsorption of uric acid at the apical membrane of the renal tubules, causes renal hypouricemia. Renal hypouricemia is common in Japanese. We analyzed seventy-one patients with idiopathic renal hypouricemia and found mutations in the SLC22A12 genes encoding URAT1 of 66 patients and the G774A mutation predominates in Japanese renal hypouricemia (homozygote 31, compound heterozygote 21, and heterozygote 10). We also checked eight SNP_s located within 650 kb upstream of the G774A locus and five within 400 kb downstream of the same locus for 31 patients with homozygous G774A mutation and 49 healthy individuals. From data on linkage disequilibrium between the G774A locus and the 13 markers flanking it (12 single nucleotide polymorphisms and 1 dinucleotide insertion/deletion locus), we here estimate the age of this mutation at approximately 6820 years [95% confidence interval (CI) 1860- 11,760 years ; median. 2460 years]. This indicates that the origin of the G774A mutation dates back from between the time when the Jomon people predominated in Japan and the time when the Yayoi people started to migrate to Japan from the Korean peninsula. These data are consistent with a recent finding that this G774A mutation was also predominant in Koreans with hypouricemia and indicate that the mutation originated on the Asian continent. Thus, this mutation found in Japanese patients was originally brought by immigrant(s) from the continent and thereafter expanded in the Japanese population either by founder effects or by genetic drift (or both).
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Report
(4 results)
Research Products
(20 results)
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[Presentation] 尿酸輸送体と遺伝性低尿酸血症2007
Author(s)
市田 公美
Organizer
第37回日本腎臓学会東部学術大会
Place of Presentation
さいたま
Year and Date
2007-10-06
Description
「研究成果報告書概要(和文)」より
Related Report
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