rs1011159 PPP1R3B-DT eGFR reduction
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Key takeaways
- This SNP is linked to lower estimated glomerular filtration rate (creatinine) with a reported effect size of 7.17 and p-value 8e-13 based on a GWAS of about 1.5 million people
- The variant reduces expression in brain regions such as the caudate basal ganglia and cerebellum and also in skin tissues like the lower leg
- No direct disease association is reported beyond the eGFR effect; the changes are modest and not clinically significant
Key takeaways This SNP is linked to lower estimated glomerular filtration rate (creatinine) with a reported effect size of 7.17 and p-value 8e-13 based on a GWAS of about 1.5 million people The variant reduces expression in brain regions such as the caudate basal ganglia and cerebellum and also in skin tissues like the lower leg
What the research says This SNP is linked to lower estimated glomerular filtration rate (creatinine) with a reported effect size of 7.17 and p-value 8e-13 based on a GWAS of about 1.5 million people [PMID 35710981]. The variant reduces expression in brain regions such as the caudate basal ganglia and cerebellum and also in skin tissues like the lower leg GTEx Portal.
Reported associations
- Estimated glomerular filtration rate (creatinine): reduced expression with effect size 7.17 p=8e-13 [PMID 35710981].
Evidence quality The GWAS involved about 1.5 million individuals and reported a strong association with eGFR (p=8e-13). The GTEx data show consistent cis-expression effects in brain and skin tissues, though the magnitude is modest. No conflicting findings were found.
Tissue- specific expression effects
- PPP1R3B: reduced expression brain_caudate_basal_ganglia, brain_cerebellar_hemisphere, brain_cerebellum, brain_putamen_basal_ganglia, skin_sun_exposed_lower_leg GTEx Portal
- LINC02950: reduced expression skin_sun_exposed_lower_leg, skin_not_sun_exposed_suprapubic GTEx Portal
- PRAG1: increased expression thyroid GTEx Portal
- ENSG00000305749: increased expression thyroid GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Bloodwork
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kidney function markers Moderate
rs1011159 is significantly associated with eGFR variation, indicating genetic influence on kidney function.
serum creatinine, eGFR, and cystatin C; repeat annually or per clinician guidance
Frequently asked questions
What does rs1011159 do?
It is linked to lower kidney function and reduces gene expression in brain and skin tissues.
Is this variant related to disease?
The only association found is with estimated glomerular filtration rate; no direct disease link is reported.
Can I change my diet because of this?
There are no lifestyle recommendations tied to the rs1011159 variant.