Department of Anorectal Surgery, Jiangmen Wuyi Hospital of Traditional Chinese Medicine, Jiangmen, China.
Clinical Medical College, Jiangxi University of Chinese Medicine, Nanchang, China.
Skin Res Technol. 2024 Feb;30(2):e13611. doi: 10.1111/srt.13611.
Inflammatory bowel disease (IBD) and psoriasis (Ps) are common immune-mediated diseases that exhibit clinical comorbidity, possibly due to a common genetic structure. However, the exact mechanism remains unknown.
The study population consisted of IBD and Ps genome-wide association study (GWAS) data. Genetic correlations were first evaluated. Then, the overall evaluation employed LD score regression (LDSC), while the local assessment utilized heritability estimation from summary statistics (HESS). Causality assessment was conducted through two-sample Mendelian randomization (2SMR), and genetic overlap analysis utilized the conditional false discovery rate/conjunctional FDR (cond/conjFDR) method. Finally, LDSC applied to specifically expressed genes (LDSC-SEG) was performed at the tissue level. For IBD and Ps-specific expressed genes, genetic correlation, causality, shared genetics, and trait-specific associated tissues were methodically examined.
At the genomic level, both overall and local genetic correlations were found between IBD and Ps. MR analysis indicated a positive causal relationship between Ps and IBD. The conjFDR analysis with a threshold of < 0.01 identified 43 loci shared between IBD and Ps. Subsequent investigations into disease-associated tissues indicated a close association of IBD and Ps with whole blood, lung, spleen, and EBV-transformed lymphocytes.
The current research offers a novel perspective on the association between IBD and Ps. It contributes to an enhanced comprehension of the genetic structure and mechanisms of comorbidities in both diseases.
炎症性肠病（IBD）和银屑病（Ps）是常见的免疫介导性疾病，具有临床共病性，可能与共同的遗传结构有关。然而，确切的机制仍不清楚。
研究人群包括 IBD 和 Ps 的全基因组关联研究（GWAS）数据。首先评估遗传相关性。然后，采用 LD 得分回归（LDSC）进行整体评估，采用基于汇总统计数据的遗传力估计（HESS）进行局部评估。通过两样本 Mendelian 随机化（2SMR）进行因果关系评估，并利用条件错误发现率/联合 FDR（cond/conjFDR）方法进行遗传重叠分析。最后，在组织水平上应用于特异性表达基因的 LDSC（LDSC-SEG）。对于 IBD 和 Ps 特异性表达基因，系统地检查了遗传相关性、因果关系、共享遗传学和与特征相关的组织。
在基因组水平上，IBD 和 Ps 之间存在整体和局部遗传相关性。MR 分析表明 Ps 和 IBD 之间存在正因果关系。具有<0.01 阈值的 conjFDR 分析确定了 43 个 IBD 和 Ps 之间共享的基因座。对疾病相关组织的进一步研究表明，IBD 和 Ps 与全血、肺、脾和 EBV 转化的淋巴细胞密切相关。
本研究为 IBD 和 Ps 之间的关联提供了新的视角。它有助于提高对两种疾病共病的遗传结构和机制的理解。
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