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全基因组关联研究揭示了自身免疫性风湿和内分泌疾病与精神疾病的共享遗传单倍型。

Genome-wide association studies reveal shared genetic haplotypes of autoimmune rheumatic and endocrine diseases with psychiatric disorders.

机构信息

Department of Basic and Clinical Sciences, University of Nicosia Medical School, Nicosia, Cyprus.

School of Veterinary Medicine, University of Nicosia, Nicosia, Cyprus.

出版信息

Brain Behav. 2023 Apr;13(4):e2955. doi: 10.1002/brb3.2955. Epub 2023 Mar 16.

Abstract

BACKGROUND

Several studies have shown that autoimmune diseases are associated with psychiatric diseases like depression and psychosis. Genetic evidence supports this association. The aim of this study was to investigate if genetic variants predisposing to autoimmune diseases and psychiatric disorders are genetically linked, constructing the common haplotypes.

METHODS

All registered single nucleotide polymorphisms (SNPs) in the Genome-wide association studies ("GWAS catalog") having been associated with autoimmune rheumatic and endocrine diseases were investigated for being in linkage disequilibrium with any psychiatric disorders' associated SNPs. Analysis was performed by the LDtrait and LDhap bioinformatics tools.

RESULTS

Multiple chromosomal regions have been detected containing rheumatic/endocrine diseases' predisposing SNPs and psychiatric disorders' predisposing SNPs. The genetic haplotypes have been constructed for some of these genetic regions. Six of the autoimmune rheumatic and endocrine diseases examined here share a common haplotype with psychiatric diseases at the HLA locus 6p21-22.

CONCLUSION

Our study shows that autoimmune diseases and psychiatric diseases are genetically linked. Genetic haplotypes have been constructed, showing in detail this genetic linkage.

摘要

背景

多项研究表明,自身免疫性疾病与抑郁症和精神病等精神疾病有关。遗传证据支持这种关联。本研究旨在探讨易患自身免疫性疾病和精神障碍的遗传变异是否存在遗传连锁,构建常见单倍型。

方法

研究了与自身免疫性风湿和内分泌疾病相关的全基因组关联研究(“GWAS 目录”)中所有已注册的单核苷酸多态性(SNP),以调查其与任何精神疾病相关 SNP 是否存在连锁不平衡。通过 LDtrait 和 LDhap 生物信息学工具进行分析。

结果

检测到多个染色体区域包含易患风湿/内分泌疾病的 SNP 和易患精神疾病的 SNP。已经为其中一些遗传区域构建了遗传单倍型。在这里检查的六种自身免疫性风湿和内分泌疾病与 HLA 基因座 6p21-22 处的精神疾病共享一个共同的单倍型。

结论

我们的研究表明,自身免疫性疾病和精神疾病在遗传上是相关的。构建了遗传单倍型,详细显示了这种遗传连锁。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4e0/10097071/48fb5840ccdc/BRB3-13-e2955-g001.jpg

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