rs10275044 (UNCX): Kidney Function Variant
Key takeaways
- rs10275044 near the UNCX gene was identified as one of 17 newly discovered loci for kidney function traits in a large East Asian population study
- The meta-analysis covered 71,149 East Asian individuals from 18 cohorts, with results examined in approximately 110,347 Europeans
- Associations met genome-wide significance (P < 5.0 x 10^-8) in one of the largest GWAS efforts for kidney-related traits in East Asian populations
- In testis tissue, the alternate allele of this variant is linked to increased expression of a nearby gene
Key takeaways
- rs10275044 near the UNCX gene was identified as one of 17 newly discovered loci for kidney function traits in a large East Asian population study
- The meta-analysis covered 71,149 East Asian individuals from 18 cohorts, with results examined in approximately 110,347 Europeans
- Associations met genome-wide significance (P < 5.0 x 10^-8) in one of the largest GWAS efforts for kidney-related traits in East Asian populations
- In testis tissue, the alternate allele of this variant is linked to increased expression of a nearby gene
What the research says A meta-analysis of genome-wide association studies in 71,149 East Asian individuals from 18 studies identified rs10275044, near the UNCX gene, as one of 17 newly associated loci for kidney function-related traits, including concentrations of blood urea nitrogen (BUN), uric acid, and serum creatinine, as well as estimated glomerular filtration rate based on serum creatinine (eGFRcrea) PMID 22797727. In silico replication was subsequently performed in approximately 110,347 individuals of European ancestry from the KidneyGen, CKDGen, and GUGC consortia PMID 22797727.
Reported associations
- Kidney function-related traits (BUN, serum creatinine, eGFRcrea, uric acid): The locus was reported as one of 17 newly associated findings in a combined East Asian sample of 71,149 individuals (trait-specific discovery samples: BUN n=57,178, serum creatinine n=61,919, eGFRcrea n=62,087, uric acid n=33,074); no per-variant effect size for rs10275044 is reported in the provided study excerpt PMID 22797727
Evidence quality The primary discovery used a GWAS meta-analysis of 51,327 East Asian individuals, followed by in silico replication in 19,822 additional East Asians and cross-ancestry replication in approximately 110,347 Europeans from the KidneyGen, CKDGen, and GUGC consortia PMID 22797727. Inflation factors were modest across all four traits (lambda_GC ranging from 1.031 to 1.079), suggesting minimal impact from population stratification PMID 22797727. Associations met the genome-wide significance threshold of P < 5.0 x 10^-8. No specific effect size for the variant and no conflicting findings are reported in the provided text, and the evidence base is limited to a single meta-analysis publication.
Tissue-specific expression effects
- ENSG00000233082: In testis tissue, the alternate allele is associated with increased expression of this gene (GTEx v11, 953 donors, FDR < 0.05); this is a mechanistic observation and its relevance to kidney biology has not been established in the available evidence GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs10275044?
rs10275044 is a genetic variant near the UNCX gene that has been associated with kidney function traits in a large genome-wide study of East Asian populations.
Which kidney function traits is rs10275044 linked to?
The variant was studied in relation to blood urea nitrogen, uric acid, serum creatinine, and estimated glomerular filtration rate based on serum creatinine. These are standard laboratory measures used to assess how well the kidneys filter waste products from the blood.
How strong is the evidence for rs10275044 and kidney function?
The association met genome-wide significance (P < 5.0 x 10^-8) in a meta-analysis of 71,149 East Asians and was examined in approximately 110,347 European individuals, providing a multi-ancestry replication base. Evidence currently comes from a single meta-analysis publication.
What is the UNCX gene?
UNCX is a gene found near rs10275044. The provided studies do not describe its biological function in detail, but the variant near this gene has been associated with kidney function measures in large population studies.
Is rs10275044 active in any specific tissue?
GTEx data from 953 donors shows that the alternate allele of rs10275044 is associated with increased expression of a nearby gene (ENSG00000233082) specifically in testis tissue. This is a mechanistic observation and its connection to kidney biology is not established in the available evidence.