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rs10868025

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0
Make rs10868025(A;A)
Make rs10868025(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position83549261
is asnp
is mentioned by
dbSNPrs10868025
ebirs10868025
HLIrs10868025
Exacrs10868025
Varsomers10868025
Maprs10868025
PheGenIrs10868025
hapmaprs10868025
1000 genomesrs10868025
hgdprs10868025
ensemblrs10868025
gopubmedrs10868025
geneviewrs10868025
scholarrs10868025
googlers10868025
pharmgkbrs10868025
gwascentralrs10868025
openSNPrs10868025
23andMers10868025
23andMe allrs10868025
SNP Nexus

SNPshotrs10868025
SNPdbers10868025
MSV3drs10868025
GWAS Ctlgrs10868025
GMAF0.3035
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs10868025 is associated with diabetic nephropathy, a kidney disease resulting from poorly managed diabetes and genetic factors. When a person has diabetic nephropathy, excess levels of blood sugar cause damage to blood vessels within the nephrons, which are filtering units within the kidneys. Diabetic nephropathy is the number one cause of long-term kidney failure and end-stage kidney disease in the United States [1].

Some of the first evidence for a genetic factor in the development of this disease was published in a New England Journal of Medicine paper in 1989 [PMID 2710189]. However, causal variants have yet to be identified [PMID 16101480]. This could potentially be due to different variants being responsible for different stages of the disease [PMID 15822051].

In a study, researchers found an association between rs10868025 (9q85.4) and diabetic nephropathy [PMID 19252134OA-icon.png]. In this study, genome wide scans were first performed on the GoKinD collection with 885 case and 820 control subjects on an Affymetrix array, and putative markers were then screened in a follow-up study looking for association between these markers and time-to-onset of nephropathy in the DCCT/EDIC data, which contained 132 cases of nephropathy and used an Illumina array. In the former analysis, the odds ratio for rs10868025 was 1.45, with a 95% confidence interval of (1.25-1.67) and a p-value of 5e-7, though this was not low enough to achieve genome-wide significance in the study (needed 1.4e-7). G is the non-risk allele and A is the risk allele. In the latter analysis, rs13289150 (r^2 = 1.0 with rs10868025) was used instead of rs10868025 and found to be significantly associated with time-to-onset of nephropathy (p-value = 0.05).

While rs10868025 is not in a gene, it is located near the FRMD3 gene, which is part of the 4.1 protein ezrin, radixin, moesin (FERM) domain. It was found in this study that cell lines relevant to diabetic nephropathy express this gene. FRMD3 encodes the 4.1O protein, which contains a FERM domain that is necessary for maintaining the integrety of the cellular membrane.

[PMID 20460425OA-icon.png] Replication study for the association between four Loci identified by a genome-wide association study on European American subjects with type 1 diabetes and susceptibility to diabetic nephropathy in Japanese subjects with type 2 diabetes.


[PMID 21911749OA-icon.png] CPVL/CHN2 genetic variant is associated with diabetic retinopathy in Chinese type 2 diabetic patients.