Associations of intestinal diseases with anal diseases: a Mendelian randomization study

• Published in: Scientific reports 2024-10, Vol.14 (1), p.24304-10, Article 24304
• Main Authors: Zeng, XiaoYu, Wang, HanYu, Wu, Ting, Zhou, ZiNing, Zhou, JianPing, Fu, Hao
• Format: Article
• Language: English
• Subjects: 631/208/2489; 692/4020/1503; Anal diseases; Anorectal; Anus; Anus Diseases - epidemiology; Anus Diseases - genetics; Autoimmune diseases; Canals (anatomy); Causal association; Celiac disease; Celiac Disease - complications; Celiac Disease - genetics; Colitis, Ulcerative - complications; Colitis, Ulcerative - genetics; Colorectal carcinoma; Crohn Disease - genetics; Crohn's disease; Genetic Predisposition to Disease; Genome-wide association studies; Genome-Wide Association Study; GWAS; Hemorrhoids; Humanities and Social Sciences; Humans; Inflammatory bowel disease; Inflammatory bowel diseases; Inflammatory Bowel Diseases - complications; Inflammatory Bowel Diseases - genetics; Intestinal diseases; Intestinal Diseases - complications; Intestinal Diseases - genetics; Intestine; Irritable bowel syndrome; Mendelian randomization; Mendelian Randomization Analysis; multidisciplinary; Neoplasia; Observational studies; Polymorphism, Single Nucleotide; Science; Science (multidisciplinary); Tumors; Ulcerative colitis
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-024-75082-0

Although observational clinical studies have established an association between Intestinal Diseases (IDS) and Anal Diseases (ADS), the causal relationship is still not fully understood due to the limitations of observational studies. Genome-wide association study (GWAS) statistical data for IDS and ADS were obtained from publicly available databases. To assess the causal effects of IDS on ADS, we conducted Mendelian randomization analysis. The inverse variance weighted method indicated that Inflammatory bowel disease (IBD) had a significant causal relationship with three kinds of ADS: Anorectal abscess (ARB), Haemorrhoidal disease (HEM), and Fissure and fistula of anal and rectal regions (FISSANAL). Crohn’s disease (CD) and Ulcerative colitis (UC) also showed significant causal effects with three ADS: ARB, HEM, and FISSANAL. Furthermore, a potential link between CD and BNA(Benign neoplasm of anus and anal canal), Irritable bowel syndrome (IBS) and HEM, Colorectal cancer (CRC) and BNA, and Celiac disease and MNA (Malignant neoplasm of anus and anal canal) was observed. This comprehensive MR analysis highlight the significant and increased risk of common Anal Diseases (ARB, FISSANAL, and HEM) in patients with IBD, CD, and UC. Additionally, potential positive causal associations emerged between IBS and HEM, CRC and BNA, as well as between celiac disease and MNA.