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A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible loci at 5q35.3,7p14.3,and 13q14.1
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نویسنده
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urabe y. ,tanikawa c. ,takahashi a. ,okada y. ,morizono t. ,tsunoda t. ,kamatani n. ,kohri k. ,chayama k. ,kubo m. ,nakamura y. ,matsuda k.
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منبع
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plos genetics - 2012 - دوره : 8 - شماره : 3
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چکیده
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Nephrolithiasis is a common nephrologic disorder with complex etiology. to identify the genetic factor(s) for nephrolithiasis,we conducted a three-stage genome-wide association study (gwas) using a total of 5,892 nephrolithiasis cases and 17,809 controls of japanese origin. here we found three novel loci for nephrolithiasis: rgs14-slc34a1-pfn3-f12 on 5q35.3 (rs11746443; p = 8.51×10 -12,odds ratio (or) = 1.19),inmt-fam188b-aqp1 on 7p14.3 (rs1000597; p = 2.16×10 -14,or = 1.22),and dgkh on 13q14.1 (rs4142110; p = 4.62×10 -9,or = 1.14). subsequent analyses in 21,842 japanese subjects revealed the association of snp rs11746443 with the reduction of estimated glomerular filtration rate (egfr) (p = 6.54×10 -8),suggesting a crucial role for this variation in renal function. our findings elucidated the significance of genetic variations for the pathogenesis of nephrolithiasis. © 2012 urabe et al.
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آدرس
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laboratory of molecular medicine,human genome center,institute of medical science,university of tokyo,tokyo,japan,departments of medical and molecular science,division of frontier medical science,programs for biomedical research,graduate school of biomedical sciences,hiroshima university,hiroshima, Japan, laboratory of molecular medicine,human genome center,institute of medical science,university of tokyo,tokyo, Japan, center for genomic medicine,the institute of physical and chemical research (riken),kanagawa, Japan, center for genomic medicine,the institute of physical and chemical research (riken),kanagawa, Japan, center for genomic medicine,the institute of physical and chemical research (riken),kanagawa, Japan, center for genomic medicine,the institute of physical and chemical research (riken),kanagawa, Japan, center for genomic medicine,the institute of physical and chemical research (riken),kanagawa, Japan, department of nephro-urology,nagoya city university graduate school of medical science,nagoya, Japan, departments of medical and molecular science,division of frontier medical science,programs for biomedical research,graduate school of biomedical sciences,hiroshima university,hiroshima,japan,center for genomic medicine,the institute of physical and chemical research (riken),kanagawa, Japan, center for genomic medicine,the institute of physical and chemical research (riken),kanagawa, Japan, laboratory of molecular medicine,human genome center,institute of medical science,university of tokyo,tokyo, Japan, laboratory of molecular medicine,human genome center,institute of medical science,university of tokyo,tokyo, Japan
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Authors
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