Zhu Zexin, Wang Xiaoxue
Department of Surgical Oncology, the Comprehensive Breast Care Center, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, People's Republic of China.
Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, People's Republic of China.
Clin Cosmet Investig Dermatol. 2024 Dec 17;17:2911-2921. doi: 10.2147/CCID.S496720. eCollection 2024.
Alopecia areata (AA) is an autoimmune skin disease. Observational studies have reported an association between AA and cancer. However, the causal relationship between AA and cancer has not been reported. We employed a two-sample Mendelian randomization (MR) study to assess the causality between AA and 17 subtypes of cancers.
We employed a two-sample Mendelian randomization (MR) study to assess the causality between AA and 17 subtypes of cancers. AA and cancers' association genome-wide association study (GWAS) data were collected. The inverse variance weighted (IVW) method was utilized as the principal method in our Mendelian randomization (MR) study, with additional use of the MR-Egger, weighted median, simple mode, and weighted mode methods. After that, we explored the underlying biological mechanisms by Bioinformatic Analysis.
According to our MR analysis, AA has a causal relationship with hepatic bile duct cancer (HBDC, (odds ratio [OR] = 0.944, 95% confidence interval [CI] = 0.896-0.994, -value = 0.030) and colorectal cancer (CRC, OR = 0.981, 95% CI = 0.963-0.999, -value = 0.046). AA could decrease the risk of HBDC and CRC. No causal link between AA and other subtypes of cancers was observed. No heterogeneity or pleiotropy was observed. Furthermore, disease-related genes were obtained, Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis results showed that the set of genes associated with immunity-inflammatory signaling pathway.
This study provided new evidence of the relationship between AA with HBDC and CRC. AA may play a protective role in both HBDC and CRC progression. This could provide newer avenues for research in search of treatment for HBDC and CRC.
斑秃（AA）是一种自身免疫性皮肤病。观察性研究报告了AA与癌症之间的关联。然而，AA与癌症之间的因果关系尚未见报道。我们采用两样本孟德尔随机化（MR）研究来评估AA与17种癌症亚型之间的因果关系。
我们采用两样本孟德尔随机化（MR）研究来评估AA与17种癌症亚型之间的因果关系。收集了AA和癌症的全基因组关联研究（GWAS）数据。逆方差加权（IVW）方法被用作我们孟德尔随机化（MR）研究的主要方法，另外还使用了MR-Egger、加权中位数、简单模式和加权模式方法。之后，我们通过生物信息学分析探索潜在的生物学机制。
根据我们的MR分析，AA与肝内胆管癌（HBDC，优势比[OR]=0.944，95%置信区间[CI]=0.896 - 0.994，P值=0.030）和结直肠癌（CRC，OR = 0.981，95% CI = 0.963 - 0.999，P值=0.046）存在因果关系。AA可降低HBDC和CRC的风险。未观察到AA与其他癌症亚型之间存在因果联系。未观察到异质性或多效性。此外，获得了疾病相关基因，基因本体（GO）和京都基因与基因组百科全书（KEGG）富集分析结果表明，该组基因与免疫炎症信号通路相关。
本研究为AA与HBDC和CRC之间的关系提供了新证据。AA可能在HBDC和CRC进展中发挥保护作用。这可为HBDC和CRC的治疗研究提供新途径。
