# Genetics and gene regulation in the inflammatory bowel diseases

> **NIH NIH K01** · MASSACHUSETTS GENERAL HOSPITAL · 2021 · $52,925

## Abstract

Project Summary/Abstract
Inflammatory bowel diseases (IBD) are a group of chronic, debilitating disorders of the gastrointestinal tract with
peak onset in adolescence and early adulthood. More than 1.4 million people are affected in the USA, with an
estimated direct healthcare cost of $6.3 billion per year. The pathogenesis of IBD is not clear but previous studies
have found IBD highly heritable. Therefore, studying the genetic basis of IBD is a natural path towards elucidating
the IBD pathogenesis and will ignite the much-needed progress toward novel IBD therapeutics. Genome-wide
association studies (GWAS) have identified over 200 loci associated with IBD. However, most IBD-causing low
frequency and rare variants have yet to be discovered as GWAS only captures common variants. Sequencing
studies can capture rare and low frequency variants but there has not been a well powered study yet. This study
proposes an exome-wide association analysis on the recently generated IBD data from CCDG, a new and better
powered dataset, with the goal to identify novel IBD genetic associations driven by low frequency coding variants.
Results from this study will be promptly released and contributed to other IBD genetics studies. The new IBD
causal variants, biological pathways and genetic mechanisms from this study will provide new insights into IBD
pathogenesis, make important positive impact and serve as the fundamental resource and basis toward novel
IBD therapeutics.

## Key facts

- **NIH application ID:** 10236691
- **Project number:** 3K01DK114379-04S1
- **Recipient organization:** MASSACHUSETTS GENERAL HOSPITAL
- **Principal Investigator:** Hailiang Huang
- **Activity code:** K01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $52,925
- **Award type:** 3
- **Project period:** 2017-09-15 → 2022-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10236691

## Citation

> US National Institutes of Health, RePORTER application 10236691, Genetics and gene regulation in the inflammatory bowel diseases (3K01DK114379-04S1). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10236691. Licensed CC0.

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