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rs1711437

From SNPedia

rs1711437 in MMP20 is correlated with creatinine clearance
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2 younger, healthier kidney function
(A;G) 2 younger, healthier kidney function
(G;G) 2.4 slightly reduced creatinine clearance
ReferenceGRCh38 38.1/141
Chromosome11
Position102594495
GeneMMP20
is asnp
is mentioned by
dbSNPrs1711437
ebirs1711437
HLIrs1711437
Exacrs1711437
Varsomers1711437
Maprs1711437
PheGenIrs1711437
hapmaprs1711437
1000 genomesrs1711437
hgdprs1711437
ensemblrs1711437
gopubmedrs1711437
geneviewrs1711437
scholarrs1711437
googlers1711437
pharmgkbrs1711437
gwascentralrs1711437
openSNPrs1711437
23andMers1711437
23andMe allrs1711437
SNP Nexus

SNPshotrs1711437
SNPdbers1711437
MSV3drs1711437
GWAS Ctlgrs1711437
GMAF0.3705
Max Magnitude2.4
? (A;A) (A;G) (G;G) 28
A genomic convergence approach was used to show that rs1711437 in MMP20 is correlated with creatinine clearance (uncorrected p=3.6 x 10-5, empirical p=0.01)[PMID 19834535OA-icon.png]. For genomic convergence, whole transcriptional profiling was first used to identify 630 genes that either change with age in the kidney or genes belonging to pathways that are enriched for genes that change with age. From these, eQTL mapping was used to find 101 genes that contained SNPs associated with expression variation that were used in an association study for creatinine clearance. Because only 2038 candidate SNPs (including SNPs that are not eQTLs) in these 101 genes were tested, p-values less than 5 x 10-5 were considered statistically significant.

Kidney function at different ages was measured by glomerular filtration rate (GFR) using combined data from the Baltimore Longitudinal Study of Aging (BLSA) and the InCHIANTI study.

In the BLSA population, the genotype of rs1711437 (a nonsynonymous SNP) explains 2.1% of the variation in creatinine clearance and in the InCHIANTI population, the genotype explains 0.9% of the variation. This association is yet to be replicated in an independent population.

rs1711437 has no discernible effect on the rate of kidney aging, as the slope for the decline in GFR (creatinine clearance) over time is not influenced by MMP20 genotype. The data from BLSA and InCHIANTI show a weak effect of MMP20 genotype on GFR in young adults/middle-aged adults, but no effect on GFR in the elderly.

It is important to note that MMP20 expression does not change with age in the human kidney (it just belongs to the extracellular matrix pathway), nor is MMP20 even expressed at detectable levels in the human kidney. In fact, MMP20 is specifically expressed in tooth enamel and catalyzes the breakdown of enamel matrix proteins.

The association between MMP20 genotype and kidney function has not been replicated in additional populations.


[PMID 21115529OA-icon.png] Genetics and genomics of human ageing.