RGD Reference Report - A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1. - Rat Genome Database

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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.

Authors: Urabe, Y  Tanikawa, C  Takahashi, A  Okada, Y  Morizono, T  Tsunoda, T  Kamatani, N  Kohri, K  Chayama, K  Kubo, M  Nakamura, Y  Matsuda, K 
Citation: Urabe Y, etal., PLoS Genet. 2012;8(3):e1002541. doi: 10.1371/journal.pgen.1002541. Epub 2012 Mar 1.
RGD ID: 7242927
Pubmed: PMID:22396660   (View Abstract at PubMed)
PMCID: PMC3291538   (View Article at PubMed Central)
DOI: DOI:10.1371/journal.pgen.1002541   (Journal Full-text)

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 = 8.51x10(-)(1)(2), odds ratio (OR) = 1.19), INMT-FAM188B-AQP1 on 7p14.3 (rs1000597; P = 2.16x10(-)(1)(4), OR = 1.22), and DGKH on 13q14.1 (rs4142110; P = 4.62x10(-)(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 = 6.54x10(-)(8)), suggesting a crucial role for this variation in renal function. Our findings elucidated the significance of genetic variations for the pathogenesis of nephrolithiasis.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
nephrolithiasis  IAGP 7242927DNA:SNP: :rs11746443 (human)RGD 
nephrolithiasis  ISORGS14 (Homo sapiens)7242927; 7242927DNA:SNP: :rs11746443 (human)RGD 
nephrolithiasis  IAGP 7242927DNA:snp:intron:IVS4+54C>T rs3812036 (human)RGD 
nephrolithiasis  ISOSLC34A1 (Homo sapiens)7242927; 7242927DNA:snp:intron:IVS4+54C>T rs3812036 (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Decreased glomerular filtration rate  IAGP 7242927DNA:SNP: :rs11746443RGD 
Objects Annotated

Genes (Rattus norvegicus)
Rgs14  (regulator of G-protein signaling 14)
Slc34a1  (solute carrier family 34 member 1)

Genes (Mus musculus)
Rgs14  (regulator of G-protein signaling 14)
Slc34a1  (solute carrier family 34 (sodium phosphate), member 1)

Genes (Homo sapiens)
RGS14  (regulator of G protein signaling 14)
SLC34A1  (solute carrier family 34 member 1)


Additional Information