[1]邓祁 汪汉 王引利 唐建辉 秦地茂.系统性红斑狼疮和肺动脉高压的遗传关联[J].心血管病学进展,2026,(3):276.[doi:10.16806/j.cnki.issn.1004-3934.2026.03.017]
　DENG Qi,WANG Han,WANG Yinli,et al.Genetic Associations Between Systemic Lupus Erythematosus and Pulmonary Arterial Hypertension[J].Advances in Cardiovascular Diseases,2026,(3):276.[doi:10.16806/j.cnki.issn.1004-3934.2026.03.017]
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系统性红斑狼疮和肺动脉高压的遗传关联()

《心血管病学进展》[ISSN:51-1187/R/CN:1004-3934]

卷:
期数:
2026年3期
页码:
276
栏目:
论著
出版日期:
2026-03-25

文章信息/Info

Title:
Genetic Associations Between Systemic Lupus Erythematosus and Pulmonary Arterial Hypertension
作者:
邓祁1 汪汉1 王引利 1 唐建辉 2 秦地茂1
( 1.成都市第三人民医院心内科,四川 成都 610031; 2.成都市第三人民医院淮州新城医院心内科,四川 成都 610031)
Author(s):
DENG Qi1;  WANG Han1; WANG Yinli1; TANG Jianhui2;  QIN Dimao1
?1.Department of Cardiology,The Third Peoples Hospital of Chengdu,Chengdu 610031,Sichuan,China2.Department of Cardiology,Affiliated Huaizhou Hospital of The Third Peoples Hospital of Chengdu,Chengdu 610031,Sichuan,China)
关键词:
系统性红斑狼疮; 肺动脉高压; 连锁不平衡; 遗传相关性; 功能注释; 跨性状分析
Keywords:
Systemic lupus erythematosus;  Pulmonary arterial hypertension;  Linkage disequilibrium;  Genetic correlation;  Functional annotation;  Cross-trait analysis
DOI:
10.16806/j.cnki.issn.1004-3934.2026.03.017
摘要:
目的 流行病学研究发现系统性红斑狼疮(SLE)与肺动脉高压(PAH)密切相关。本研究探讨SLE与PAH的遗传相关性、共享遗传结构和潜在机制。方法 基于大规模全基因组关联研究的汇总数据，评估SLE与PAH之间的遗传相关性，并进行跨性状分析；基于汇总数据的孟德尔随机化(SMR)分析用于分析潜在的药物靶点，功能注释和组织特异性分析作为补充探索二者之间的潜在关联。结果 研究发现SLE与PAH具有30个基因座的显著的局部遗传相关性(P＜0.05/249 5)。共识别出了SLE与PAH相关的113个（P<5×10–8）可能的SNP位点，基于功能映射和注释工具识别出了14个风险单核苷酸多态性。进一步的SMR分析发现二者之间存在27个重叠的潜在可药用基因。基于分层连锁不平衡分数回归方法及功能映射和注释工具的分析，表明SNP位点主要在皮肤、全血以及肝脏组织富集，而基因在全血、大脑组织、纤维细胞以及脾脏中表现出显著的富集。结论 研究证明了SLE与PAH之间存在遗传关联和共享结构，并初步揭示了潜在的调控机制及治疗靶点。
Abstract:
Objective Epidemiological studies have found a close association between systemic lupus erythematosus(SLE) and pulmonary arterial hypertension(PAH). The aim of this study was to explore the genetic correlation,shared genetic structure,and potential mechanisms between SLE and PAH. Methods Based on the summary data of large-scale genome-wide association study(GWAS),we evaluated the genetic correlation between SLE and PAH and conducted cross-trait analysis. Summary-data-based Mendelian randomization(SMR) analysis was used to analyze potential drug targets,and functional annotation and tissue-specific analysis were used as supplementary methods to explore the potential association between the two. Results The study found a significant local genetic correlation of 30 loci?between SLE and PAH(P<0.05/2 495). A total of 113 possible SNP loci(P<5×10–8) related to both SLE and PAH were identified. Based on functional mapping and annotation(FUMA) tool,14 risk single-nucleotide polymorphisms(SNPs) associated with both SLE and PAH were identified. Further SMR analysis revealed 27 overlapping potential druggable genes between the two. Based on the analysis of stratified linkage disequilibrium score regression method and FUMA tool ,SNP loci were mainly enriched in skin,whole blood,and liver tissues,while genes showed significant enrichment in whole blood,brain tissue,fibroblasts,and spleen. Conclusion Our study demonstrated the genetic association and shared structure between SLE and PAH and preliminarily revealed the potential regulatory mechanisms

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更新日期/Last Update: 2026-07-03