# Rheumatoid Arthritis and Autism Spectrum Disorder

> **NIH NIH R01** · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · 2020 · $324,839

## Abstract

PROJECT SUMMARY
Rheumatoid arthritis (RA) is an autoimmune chronic inflammatory disorder. Although multiple immune and
inflammatory pathways are known to be involved in the development of RA it remains unclear what the
triggering mechanisms are. Discovery of any potential causal contributors, including other diseases, like
Autism Spectrum Disorder (ASD), is crucially important for disease prevention and developing of new efficient
treatments. Moreover, offspring of mothers with RA are at increased risk of perinatal complications and recent
reports suggests an increased risk of ASD. ASD is a severe non-curable neuro-developmental disorder. A link
to RA and treatment for RA, e.g. medication, may suggest an immune-mediated origin of ASD as a new
etiological avenue and a step towards prevention.
The goal of this project is to examine the etiological association between RA and ASD; Disentangle and
estimate genetic and environmental inherited risk from parents with RA to offspring ASD and examine the risk
for RA in individuals with ASD and how these associations are modified by shared risk factors and RA sub-
types, sero-negative and sero-positive RA, and timing of the RA exposure.
To achieve this goal we will create a prospective cohort of all children born in Sweden between 1997 and
2015, enriched with data from two Swedish genetic data sources, and follow them up to end of 2018 for clinical
diagnosis of RA and ASD and apply methods for survival analysis. In Aim 1 we will calculate relative risk of
ASD for mothers and fathers with RA compared to the general population, by RA subtype, by sex and by
timing of exposure. In Aim 2 we will extend the analyses to study the risk of RA in individuals with ASD. Aim 3
will examine the evidence for shared genetic risk between RA and ASD and study specific genetic markers.
We will perform an independent replication of the analyses of Aim 1 and Aim 2 in a similar dataset from Israel.

## Key facts

- **NIH application ID:** 10000829
- **Project number:** 5R01AR075812-02
- **Recipient organization:** ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
- **Principal Investigator:** Sven Sandin
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $324,839
- **Award type:** 5
- **Project period:** 2019-09-01 → 2023-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10000829

## Citation

> US National Institutes of Health, RePORTER application 10000829, Rheumatoid Arthritis and Autism Spectrum Disorder (5R01AR075812-02). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10000829. Licensed CC0.

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