rs1131773 (SUSD3): eQTL effects in nerve and spleen
Key takeaways
- rs1131773 in the SUSD3 region reduces expression of the ANKRD19P gene across five tissue types, including spleen, heart, adrenal gland, nerve, and skin
- The variant also reduces CARD19 expression in tibial nerve with a very strong statistical signal (p=2.6e-11)
- Expression effects span immune, endocrine, and neural tissues, suggesting broad regulatory influence
- No specific clinical trait or disease associations for this variant are documented in available research data
Key takeaways
- rs1131773 in the SUSD3 region reduces expression of the ANKRD19P gene across five tissue types, including spleen, heart, adrenal gland, nerve, and skin
- The variant also reduces CARD19 expression in tibial nerve with a very strong statistical signal (p=2.6e-11)
- Expression effects span immune, endocrine, and neural tissues, suggesting broad regulatory influence
- No specific clinical trait or disease associations for this variant are documented in available research data
What the research says rs1131773, a variant in the SUSD3 gene region, was analyzed as part of a large-scale genome-wide association study (GWAS) of 405,088 UK Biobank participants examining 79 quantitative and 50 binary traits using the Quickdraws method (Loya et al., Nature Genetics 2025), though per-variant trait results are not detailed in the available study text. GTEx v11 eQTL data from 953 donors shows that the alternative allele at this locus consistently reduces expression of ANKRD19P across five tissues, with p-values from 3.1e-5 in adrenal gland to 6.1e-7 in spleen (the most significant of the five), and also reduces expression of CARD19 in tibial nerve and an uncharacterized gene (ENSG00000288062) in adrenal gland and thyroid GTEx Portal. No specific clinical trait results for this variant are reported in the available study data.
Reported associations
- ANKRD19P expression: the alternative allele reduces expression of ANKRD19P across five tissues (spleen, heart atrial appendage, adrenal gland, tibial nerve, sun-exposed lower leg skin); tissue-by-tissue detail is in the Tissue-specific expression effects section GTEx Portal
- CARD19 expression: reduced expression in tibial nerve, carrying the strongest statistical signal of any eQTL reported for this variant (p=2.6e-11) GTEx Portal
- ENSG00000288062 expression: reduced expression of this currently uncharacterized gene in adrenal gland and thyroid GTEx Portal
Evidence quality The eQTL associations are derived from GTEx v11 (953 donors, false discovery rate below 5%). The ANKRD19P signal is observed across five independent tissues, with p-values from 3.1e-5 (adrenal gland) to 6.1e-7 (spleen), providing convergent support for a genuine expression effect. The CARD19 tibial nerve eQTL is particularly robust at p=2.6e-11. The ENSG00000288062 eQTL reaches significance in two tissues (thyroid: p=2.8e-7; adrenal gland: p=7.0e-6). No independent replication of these eQTL signals is described in the available studies. The broader GWAS context (Loya et al., Nature Genetics 2025, n=405,088) establishes that rs1131773 was analyzed across many traits in UK Biobank, but specific per-variant trait results are not included in the provided study text, so the clinical relevance of these expression changes remains uncharacterized in the available data.
Tissue-specific expression effects
- ANKRD19P: the alternative allele reduces ANKRD19P expression in spleen (p=6.1e-7), heart atrial appendage (p=3.6e-6), adrenal gland (p=3.1e-5), tibial nerve (p=2.3e-5), and sun-exposed lower leg skin (p=9.3e-6), with the largest effect magnitude observed in spleen GTEx Portal
- ENSG00000288062: reduced expression of this uncharacterized gene in adrenal gland (p=7.0e-6) and thyroid (p=2.8e-7) GTEx Portal
- CARD19: reduced expression in tibial nerve (p=2.6e-11), the most statistically significant eQTL association reported for this variant across all three target genes GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs1131773?
rs1131773 is a genetic variant in the SUSD3 gene region. It has been studied in large-scale genome-wide association analyses and is associated with reduced expression of nearby genes across multiple tissue types.
What tissues does rs1131773 affect?
GTEx eQTL data shows rs1131773 reduces expression of ANKRD19P in spleen, heart, adrenal gland, tibial nerve, and skin. It also reduces CARD19 expression in tibial nerve and lowers expression of an uncharacterized gene in adrenal gland and thyroid.
Is rs1131773 linked to any disease?
No specific clinical disease associations for rs1131773 are documented in available research data. The variant has been analyzed in large-scale UK Biobank studies, but specific trait findings are not reported in the available study text.
What is an eQTL and why does it matter?
An eQTL (expression quantitative trait locus) is a genetic variant that influences how actively a gene produces its protein. eQTLs provide clues about biological mechanisms through which variants may influence health, though an eQTL effect alone does not confirm a disease association.
What gene is rs1131773 located in?
rs1131773 is located in the SUSD3 gene region. The available research data does not describe SUSD3's specific biological function, but eQTL analysis shows this variant influences expression of the nearby genes ANKRD19P, CARD19, and a currently uncharacterized gene.