| 马端琳,孙晓军.斑秃与牙周炎的因果关系分析[J].安徽医药,2026,30(10):2002-2007. |
| 斑秃与牙周炎的因果关系分析 |
| Causal relationship analysis between alopecia areata and periodontitis |
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| DOI：10.3969/j.issn.1009-6469.2026.10.018 |
| 中文关键词: 斑秃 牙周炎 孟德尔随机化 全基因组关联分析 因果关联 遗传易感性 |
| 英文关键词: Alopecia areata Periodontitis Mendelian randomization Genome-wide association study Causal association Hereditary susceptibility |
| 基金项目:山西省基础研究计划项目( 202203021221253) |
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| 中文摘要: |
| 目的采用两样本孟德尔随机分析( MR)方法探讨斑秃与牙周炎之间是否存在双向因果关系，明确两者潜在的因果方向。方法 2024年 10月 1日至 11月 1日开展该研究。基于已发表的全基因组关联研究( GWAS)汇总数据开展分析，其中斑秃和牙周炎 GWAS数据分别包含 362 450例和 45 563例研究样本。在正向 MR分析中，将斑秃作为暴露因素，筛选获得 94个单核苷酸多态性( SNP)作为工具变量( IV)用于评估斑秃遗传易感性对牙周炎风险的因果影响；在反向 MR分析中，以牙周炎作为暴露因素，选取 8个 SNP作为 IV，分析其，对斑秃风险的潜在因果作用。双向 MR分析均采用逆方差加权法( IVW)作为主要估计方法，并结合加权中位数法( WM)和 MR-Egger回归进行补充分析。同时开展异质性检验、多效性检验，并通过留一法评估结果的稳定性。结果正向 MR分析结果显示，遗传预测的斑秃与牙周炎风险增加存在显著因果关联［ IVW，OR=1.059，95%CI:(1.046，1.072)，P<0.001］；而反向 MR分析未发现牙周炎对斑秃存在显著因果效应［ IVW，OR=1.063，95%CI:(0.825，1.369)，P= 0.637］。结论斑秃遗传易感性可能与牙周炎风险升高存在因果关联，而未发现牙周炎对斑秃具有明确的因果影响。未来仍需结合实验研究以及更大规模样本开展进一步验证。 |
| 英文摘要: |
| Objective To explore whether there is a bidirectional causal relationship between alopecia areata and periodontitis by us-ing a two-sample Mendelian randomization (MR) method, and to clarify the potential causal direction between the two.Methods The study will be conducted from October 1 to November 1, 2024. Analyses were performed based on the published genome-wide associa-tion studies (GWAS) summary data, with the GWAS datasets for alopecia areata and periodontitis comprising 362,450 and 45,563 sam-ples, respectively. In the forward MR analysis, alopecia areata was used as an exposure factor, and 94 single nucleotide polymorphisms(SNPs) were screened as instrumental variables (IV) to evaluate the causal effect of genetic susceptibility to alopecia areata on the riskof periodontitis. In the reverse MR analysis, periodontitis was used as an exposure factor, and 8 SNPs were selected as IV to analyzetheir potential causal effects on the risk of alopecia areata. Bidirectional MR analyses were performed using inverse-variance weighting (IVW) as the main estimation method, supplemented by weighted median (WM) and MR-Egger regression. Meanwhile, heterogeneitytest and pleiotropic test were carried out, and the stability of the results was evaluated by leave-one-out analysis.Results Forward MR analysis results showed that there was a significant causal association between genetically predicted alopecia areata and increased riskof periodontitis [IVW, OR=1.059, 95% CI: (1.046, 1.072), P<0.001]. However, reverse MR analysis results did not reveal a significant causal effect of periodontitis on alopecia areata [IVW, OR=1.063, 95% CI: (0.825, 1.369), P=0.637].Conclusions This study showsthat there may be a causal association between the genetic susceptibility to alopecia areata and the increased risk of periodontitis, butno clear causal effect of periodontitis on alopecia areata was identified. In the future, further verification will need to be carried out incombination with experimental research and larger sample sizes. |
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