# Characterizing the Takayasu arteritis genetic risk in RPS9/LILRB3

> **NIH NIH R01** · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · 2022 · $332,799

## Abstract

Abstract
Takayasu arteritis is a systemic inflammatory disease of the large arteries and their major branches. The
etiology and pathogenesis of Takayasu arteritis are poorly understood, however, a genetic contribution to the
disease has been suggested by the established genetic association with HLA-B*52. Our recent work identified
and confirmed multiple genetic susceptibility loci for Takayasu arteritis outside of the HLA region. These
include a genetic risk locus on the leukocyte receptor complex (LRC) region on chromosome 19q13.4. We
localized the genetic signal in this region to RPS9/LILRB3, and the causal variant(s) in this locus is tagged by
the SNP rs11666543 which influences the expression levels of multiple transcripts within this region suggesting
that the causal variant is located within a regulatory genetic element. Indeed, rs11666543 is located within an
active enhancer region in primary monocytes, and the disease risk variant is associated with significant
reduction of LILRB3 mRNA expression. LILRB3 is an inhibitory immunoregulatory receptor expressed on
antigen presenting cells, and its deficiency has been linked to monocyte/macrophage activation. We propose
to use innovative state-of-the-art genomic and epigenomic approaches, followed by functional studies to
identify and characterize the causal genetic variants in this locus, and their functional pathogenic effect upon
disease susceptibility.

## Key facts

- **NIH application ID:** 10162501
- **Project number:** 5R01AR070148-05
- **Recipient organization:** UNIVERSITY OF PITTSBURGH AT PITTSBURGH
- **Principal Investigator:** Amr H Sawalha
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $332,799
- **Award type:** 5
- **Project period:** 2019-07-12 → 2024-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10162501

## Citation

> US National Institutes of Health, RePORTER application 10162501, Characterizing the Takayasu arteritis genetic risk in RPS9/LILRB3 (5R01AR070148-05). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10162501. Licensed CC0.

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