rs118085779 (KLRG1): Brain Expression Variant
Key takeaways
- This variant is associated with increased KLRG1 expression in brain cortex and hypothalamus tissue, based on GTEx data from 953 donors.
- The same variant is linked to reduced FOXJ2 expression in the cerebellum, with a p-value of 9.9e-8, one of the strongest signals in this dataset.
- In whole blood, two nearby genes (ENSG00000309149 and LINC00987) show reduced expression linked to this variant.
- All current evidence is from tissue gene expression studies (eQTLs), not direct disease or trait associations.
- No lifestyle or drug response data is on file for this variant from the provided sources.
Key takeaways
- This variant is associated with increased KLRG1 expression in brain cortex and hypothalamus tissue, based on GTEx data from 953 donors.
- The same variant is linked to reduced FOXJ2 expression in the cerebellum, with a p-value of 9.9e-8, one of the strongest signals in this dataset.
- In whole blood, two nearby genes (ENSG00000309149 and LINC00987) show reduced expression linked to this variant.
- All current evidence is from tissue gene expression studies (eQTLs), not direct disease or trait associations.
- No lifestyle or drug response data is on file for this variant from the provided sources.
What the research says GTEx v11 tissue expression analysis (953 donors, cis-window, FDR<0.05) links rs118085779 to increased KLRG1 expression in brain cortex (+1.03 on a log2-normalized scale, p=5.9e-5), hypothalamus (+0.91, p=4.8e-5), and cultured fibroblasts (+0.62, p=1.4e-4), and to reduced FOXJ2 expression in the brain cerebellum (-0.67, p=9.9e-8) GTEx Portal. In whole blood, the same variant is associated with reduced expression of ENSG00000309149 (-0.56, p=2.0e-7) and LINC00987 (-0.49, p=1.8e-6) GTEx Portal. No direct GWAS trait or disease associations for rs118085779 are reported in the provided study data.
Reported associations
- KLRG1 expression: The alternate allele is associated with increased KLRG1 expression in brain cortex (+1.03 log2-normalized, p=5.9e-5, n=953 donors), hypothalamus (+0.91, p=4.8e-5), and cultured fibroblasts (+0.62, p=1.4e-4) GTEx Portal
- FOXJ2 expression: The alternate allele is associated with reduced FOXJ2 expression in the brain cerebellum (-0.67 log2-normalized, p=9.9e-8) GTEx Portal
- ENSG00000309149 expression: The alternate allele is associated with reduced expression of this locus in whole blood (-0.56 log2-normalized, p=2.0e-7) GTEx Portal
- LINC00987 expression: The alternate allele is associated with reduced LINC00987 expression in whole blood (-0.49 log2-normalized, p=1.8e-6) GTEx Portal
Evidence quality All available associations for rs118085779 derive from the GTEx v11 reference dataset (953 donors, cis-window analysis, FDR<0.05) GTEx Portal. The strongest p-values are for the FOXJ2 cerebellar signal (p=9.9e-8), the ENSG00000309149 blood signal (p=2.0e-7), and the LINC00987 blood signal (p=1.8e-6). The brain cortex and hypothalamus KLRG1 signals (p=5.9e-5 and p=4.8e-5) are statistically robust within the eQTL FDR framework, though they do not meet the more conservative p=5e-8 threshold typically applied in disease GWAS. No replication of these eQTL signals in independent cohorts is established from the provided data. A large-scale GWAS methods analysis was applied to 405,088 UK Biobank individuals across 79 quantitative and 50 binary traits, but the provided text does not report specific associations for rs118085779.
Tissue-specific expression effects
- KLRG1: Increased expression in brain cortex, brain hypothalamus, and cultured fibroblasts when the alternate allele is present GTEx Portal
- FOXJ2: Reduced expression in the brain cerebellum when the alternate allele is present GTEx Portal
- ENSG00000309149: Reduced expression in whole blood when the alternate allele is present GTEx Portal
- LINC00987: Reduced expression in whole blood when the alternate allele is present GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs118085779?
rs118085779 is a genetic variant located near the KLRG1 gene. Based on tissue expression data from 953 donors, it is linked to changes in gene activity across brain regions and whole blood, though no disease associations are on file.
Is rs118085779 linked to any diseases?
No disease associations for rs118085779 are reported in the available data. The known evidence covers tissue-level gene expression effects only.
What does KLRG1 have to do with this variant?
KLRG1 is the nearest named gene to this variant. The available data shows that the alternate allele of rs118085779 is linked to increased KLRG1 expression in brain cortex and hypothalamus, as well as in cultured fibroblasts.
What is an eQTL?
An eQTL (expression quantitative trait locus) is a genetic variant that affects how much a nearby gene is expressed in a specific tissue. It provides clues about biological mechanisms but does not by itself confirm a disease connection.
Which tissues are affected by rs118085779?
Based on GTEx tissue data, this variant affects KLRG1 expression in brain cortex and hypothalamus (increased) and in cultured fibroblasts (increased), FOXJ2 expression in the cerebellum (reduced), and two genes in whole blood (reduced).