Causal relationship between virus infection characterized by skin and mucosal lesions and dermatomyositis based on Mendelian randomization

doi:10.3969/j.issn.1004-583X.2025.09.006

Abstract

Abstract:

Objective To investigate the causal relationship between viral infection characterized by skin and mucosal lesions and dermatomyositis (DM) using Mendelian randomization (MR) with single nucleotide polymorphism (SNP) as instrumental variable. Methods Genome-wide association study (GWAS) data of viral infection (Finn-B-Ab1_Viral_Skin_Mucous_Membrane) and DM (finn-b-M13_DERMATOPOLY) with the largest sample size in recent three years were obtained from the IEU Open GWAS project website. Single nucleotide polymorphisms (SNPs) with a high correlation with virus infection characterized by skin and mucous membrane were screened from Finn-b-ab1 _ viral _ skin _ mucous_membrane (threshold: $P$ <5×10^-8, width of linkage disequilibrium region: 10 000 kb, and the linkage disequilibrium coefficient $r 2$ =0.001). Highly linked SNPs related to skin and mucosal lesions were extracted from finn-b-M13_DERMATOPOLY, and the minimum $r 2$ value was >0.8. Two datasets were pooled to remove SNPs directly related to DM. Seventy-three SNPs were used as instrumental variables, including rs10051884, rs9438624 and rs62194265. MR-Egger regression, random effect inverse variance weighted method (IVW) and weighted median method (WME) regression models were used to analyze the causal relationship between viral infection characterized by skin and mucosal lesions and DM. Results Two groups of GWAS data were sourced from the European population, regardless of gender. The intercept term of MR Egger regression was -0.022 ( $P$ =0.644), indicating no pleiotropy between the screened SNPs and DM. The odds ratio ( $O R$ ) (95% $C I$ ) of MR-Egger regression, IVW, and WME was 1.676(0.808-3.480), 1.362(0.865-2.145), and 1.439 (1.021-2.029), respectively. The results of random effect IVW were of concern due to the presence of heterogeneity ( $Q$ =93.823, $P$ =0.036). Conclusion Virus infection characterized by skin and mucosal lesions is a risk factor for DM.

Key words: dermatomyositis, viral infections characterized by skin and mucosal lesions, Mendelian randomization

CLC Number:

R593.26

Li Ying, Cao Tingting, Wang Cuicui, Li Yanxia, Yang Dongliang. Causal relationship between virus infection characterized by skin and mucosal lesions and dermatomyositis based on Mendelian randomization[J]. Clinical Focus, 2025, 40(9): 811-815.

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URL: https://www.lchc.cn/EN/10.3969/j.issn.1004-583X.2025.09.006

https://www.lchc.cn/EN/Y2025/V40/I9/811

Figures/Tables 4

Tab.1 Information on partial selected SNPs

SNP	chr	pos	效应等位基因	等位基因频率	β	SE
rs10051884	5	114147730	C	0.1494	0.1006	0.0243
rs10118804	9	135586105	T	0.2654	-0.088	0.0197
rs10146873	14	53195799	A	0.3906	0.0757	0.0177
rs1032185	1	76623827	T	0.6915	0.0791	0.0187
rs77975072	18	67052871	C	0.00944	0.4143	0.0939
rs78144617	6	156751058	G	0.01671	-0.2817	0.0679
rs8077128	17	76281130	G	0.09054	0.1279	0.0307
rs9438624	1	26758044	T	0.772	-0.0871	0.0206

Tab.2 MR regression results of three methods

方法	β	SE	$O R$ (95% $C I$ )	$t$ 值	$P$ 值
MR-Egger	0.517	0.373	1.676(0.808~3.480)	1.386	0.170
WME	0.309	0.232	1.362(0.865~2.145)	1.332	0.182
IVW	0.364	0.175	1.439(1.021~2.029)	2.080	0.038

Tab.2 MR regression results of three methods

方法	β	SE	$O R$ (95% $C I$ )	$t$ 值	$P$ 值
MR-Egger	0.517	0.373	1.676(0.808~3.480)	1.386	0.170
WME	0.309	0.232	1.362(0.865~2.145)	1.332	0.182
IVW	0.364	0.175	1.439(1.021~2.029)	2.080	0.038

Fig.1 Forest map of MR effect for each SNP

Fig.2 Scatter plot (left) and funnel plot (right) of MR

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