rs10181201 - SPTBN1
Magnitude 2.2 · 1 study on file
Reported associations
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Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies - Unknown journal (n.d.) · Unknown authors · PubMed 30604766
ABSTRACT: Chronic kidney disease (CKD) affects ~10% of the global population, with considerable ethnic differences in prevalence and aetiology. We assemble genome-wide association studies of estimated glomerular filtration rate (eGFR), a measure of kidney function that defines CKD, in 312,468 individuals of diverse ancestry. We identify 127 distinct association signals with homogeneous effects on eGFR across ancestries and enrichment in genomic annotations including kidney-specific histone modifications. Fine-mapping reveals 40 high-confidence variants driving eGFR associations and highlights putative causal genes with cell-type specific expression in glomerulus, and in proximal and distal nephron. Mendelian randomisation supports causal effects of eGFR on overall and cause-specific CKD,
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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kidney disease genetic risk and prevention strategies High
rs10181201 is associated with reduced kidney function and increased risk of chronic kidney disease and glomerular diseases.
Review baseline kidney function tests and discuss personalized risk management with primary care or nephrology provider.
Screening
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eGFR and serum creatinine High
rs10181201 is associated with reduced estimated glomerular filtration rate, indicating genetic predisposition to lower kidney function.
Check annually; discuss optimal testing frequency with healthcare provider based on baseline values.
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blood pressure Moderate
Genetic predisposition to reduced kidney function increases hypertension risk through causal pathways established in Mendelian randomization analysis.
Check regularly, at least annually; maintain log if readings are elevated.