Genetic and Clinical Characteristics of Difficult‐To‐Treat Crohn's Disease: Trio‐Based Exome Sequencing in 24 Families
This is the first trio-WES study of DTT-CD that reveals a high prevalence of monogenic XIAP deficiency (16.7%), advocating for genetic screening in refractory cases. Novel candidate genes implicate polygenic mechanisms of therapeutic resistance. Family-based sequencing may be used to elucidate the genetic background of DTT-CD cases to guide molecular diagnosis and personalized therapy.
Authors
- Xiang Peng (ORCID: https://orcid.org/0000-0003-3453-4062)
- Zhuoming Xu (ORCID: https://orcid.org/0000-0001-5695-8662)
- Min Zhi (ORCID: https://orcid.org/0000-0001-8178-5572)
- Tao Liu (ORCID: https://orcid.org/0000-0002-7710-7557)
- Hao Wu (ORCID: https://orcid.org/0000-0002-4138-1239)
- Jiayin Yao (ORCID: https://orcid.org/0000-0002-3410-7776)
- Xiaopan Chen (ORCID: https://orcid.org/0000-0003-4289-7541)
- Jue Lin (ORCID: https://orcid.org/0000-0001-7216-1610)
- Yi Cui (ORCID: https://orcid.org/0000-0002-5961-3106)
- Qi Zhang (ORCID: https://orcid.org/0000-0001-8222-0039)
- Min Zhang (ORCID: https://orcid.org/0000-0001-9794-4523)
- Jun Hu
- Jun Deng (ORCID: https://orcid.org/0000-0003-2420-8079)
- Wei Wang (ORCID: https://orcid.org/0000-0003-2044-6387)
Institutions
- Sun Yat-sen University (CN)
- Sixth Affiliated Hospital of Sun Yat-sen University (CN)
- Guangzhou Women and Children Medical Center (CN)
- Guangzhou Institute of Dermatology (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Journal of Digestive Diseases
- Published
- 2025-05-01
- DOI
- https://doi.org/10.1111/1751-2980.13358
- Primary Topic
- Inflammatory Bowel Disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China