rs10922162 (ASPM): complement and coagulation eQTL
Key takeaways
- A genetic switch near ASPM influences how actively five immune and clotting genes work in nerve, fat, liver, and testis
- In peripheral nerve and fat, this variant increases activity of CFH and CFHR3 (complement immune system genes)
- In liver, the variant reduces CFHR4 activity; in testis, it increases F13B, a blood-clotting component
- Direct evidence for rs10922162 comes only from gene-expression studies; no GWAS directly testing this variant was provided
Key takeaways
- A genetic switch near ASPM influences how actively five immune and clotting genes work in nerve, fat, liver, and testis
- In peripheral nerve and fat, this variant increases activity of CFH and CFHR3 (complement immune system genes)
- In liver, the variant reduces CFHR4 activity; in testis, it increases F13B, a blood-clotting component
- Direct evidence for rs10922162 comes only from gene-expression studies; no GWAS directly testing this variant was provided
What the research says Gene expression data from GTEx v11 (953 donors) shows rs10922162 is an eQTL (expression quantitative trait locus - a variant that controls how actively nearby genes are transcribed) for five genes in the CFH and CFHR gene families and for F13B, with the ALT allele increasing expression in peripheral nerve and fat tissue while decreasing CFHR4 expression in liver GTEx Portal. The EuroCLOT study performed a 3-stage genome-wide investigation of coagulation phenotypes and stroke risk across approximately 8,900 stroke cases and 55,000 controls, identifying ABO gene variant rs505922 - a different variant at a different chromosomal locus - as associated with large-vessel and cardioembolic ischemic stroke (OR = 0.94, 95% CI = 0.88-0.99; p = 0.001 at Meta-Stroke replication), but this study does not examine rs10922162. No genome-wide association study results for rs10922162 were included in the provided research.
Reported associations
- CFH expression (tibial nerve, subcutaneous fat): The ALT allele is associated with increased CFH expression in tibial nerve (slope +0.21, p = 1.4e-7) and subcutaneous fat (slope +0.17, p = 2.5e-5) GTEx Portal
- CFHR3 expression (tibial nerve, subcutaneous fat): The ALT allele is associated with increased CFHR3 expression in tibial nerve (slope +0.36, p = 6.0e-9) and subcutaneous fat (slope +0.25, p = 1.6e-5) GTEx Portal
- CFHR4 expression (liver): The ALT allele is associated with decreased CFHR4 expression in liver (slope -0.34, p = 4.0e-7) GTEx Portal
- CFHR1 expression (tibial nerve): The ALT allele is associated with increased CFHR1 expression in tibial nerve (slope +0.20, p = 2.6e-4) GTEx Portal
- F13B expression (testis): The ALT allele is associated with increased F13B expression in testis (slope +0.33, p = 7.9e-5) GTEx Portal
Evidence quality The GTEx eQTL data for rs10922162 draws on GTEx v11 (953 donors) with a false discovery rate (FDR) threshold below 0.05; p-values for the five gene-tissue associations range from 6.0 x 10-9 (CFHR3 in tibial nerve, strongest signal) to 7.9 x 10-5 (F13B in testis, weakest signal), indicating statistically strong to moderate support across all five gene-tissue pairs GTEx Portal. The EuroCLOT study, which provides contextual evidence on coagulation genetics, enrolled approximately 8,900 stroke cases and 55,000 controls for its replication stage, giving well-powered estimates for rs505922 in the ABO gene; however, this study does not examine rs10922162, so its findings cannot be attributed to this locus. No conflicting study data were present; the evidence base for rs10922162 is limited entirely to tissue-expression data, making any disease association for this variant speculative at this time.
Tissue-specific expression effects
- CFHR3: Increased expression in peripheral nerve (tibial nerve) and subcutaneous fat; the ALT allele is associated with higher CFHR3 gene activity in both tissues GTEx Portal
- CFHR4: Reduced expression in liver; the ALT allele is associated with lower CFHR4 gene activity specifically in hepatic tissue GTEx Portal
- CFH: Increased expression in peripheral nerve (tibial nerve) and subcutaneous fat; the ALT allele is associated with higher CFH gene activity in both tissues GTEx Portal
- F13B: Increased expression in testis; the ALT allele is associated with higher F13B gene activity in testicular tissue GTEx Portal
- CFHR1: Increased expression in peripheral nerve (tibial nerve); the ALT allele is associated with higher CFHR1 gene activity in this tissue GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs10922162?
rs10922162 is a genetic variant located near the ASPM gene. Gene expression data from thousands of tissue samples shows it influences how actively several related genes in the complement immune system and blood clotting pathway are expressed across different tissues.
What does the ASPM gene do?
The studies provided do not describe ASPM gene function directly. Gene expression data shows this variant near ASPM primarily affects the activity of nearby genes including CFH, CFHR1, CFHR3, CFHR4, and F13B, rather than ASPM itself.
Is rs10922162 linked to stroke?
No direct link between rs10922162 and stroke has been established in the provided research. The EuroCLOT study on coagulation and stroke examined ABO gene variant rs505922, which is a different variant at a different genomic location.
What tissues does rs10922162 affect?
Gene expression studies show this variant influences gene activity in peripheral nerve tissue (tibial nerve), subcutaneous fat, liver, and testis, with different genes being affected in each tissue.
What is an eQTL?
An eQTL (expression quantitative trait locus) is a genetic variant that influences how much a gene is expressed, acting as a volume control for nearby gene activity. rs10922162 is an eQTL for five genes, with different effects in different tissue types.