Causal association between non-thyroidal autoimmune diseases and Graves' ophthalmopathy: A mendelian randomization study
Purpose: This Mendelian randomization (MR) analysis study aimed to investigate the genetic causal relationship between non-thyroidal autoimmune diseases (ADs) and Graves' ophthalmopathy (GO). Materials: Single nucleotide polymorphisms (SNPs) associated with inflammatory bowel disease (IBD), mul...
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Elsevier
2025-02-01
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| Series: | Advances in Ophthalmology Practice and Research |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2667376224000714 |
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| author | Lan Ma Xue Jiang Zhijia Hou Dongmei Li |
| author_facet | Lan Ma Xue Jiang Zhijia Hou Dongmei Li |
| author_sort | Lan Ma |
| collection | DOAJ |
| description | Purpose: This Mendelian randomization (MR) analysis study aimed to investigate the genetic causal relationship between non-thyroidal autoimmune diseases (ADs) and Graves' ophthalmopathy (GO). Materials: Single nucleotide polymorphisms (SNPs) associated with inflammatory bowel disease (IBD), multiple sclerosis (MS), psoriasis vulgaris (PV), type 1 diabetes (T1D), systemic lupus erythematosus (SLE), and rheumatoid arthritis (RA) were obtained from the IEU Open genome-wide association studies (GWAS) database, GWAS data for GO were obtained from the FinnGen database. Bidirectional MR analysis was conducted using inverse variance weighted (IVW) method, weighted median (WM) method and MR-Egger test. Cochran's Q statistic was used to assess the heterogeneity between SNP estimates. MR-Egger regression was used to evaluate horizontal pleiotropy and MR pleiotropy residual sum and outlier (MR-PRESSO) test was used to detect the outliers. Results: For non-thyroidal ADs, the forward MR results using the IVM method showed that T1D (OR = 1.259, 95%CI 1.026–1.5465; P = 0.028) and SLE (OR = 1.807, 95%CI 1.229–2.655; P = 0.003) were correlated with the risk of GO at the genetic level, while there was no evidence showing that IBD, MS, PV and RA were correlated with GO. In the reverse MR study, there was a significant increase in the risk of developing T1D in GO (OR = 1.135, 95%CI 1.018–1.265; P = 0.022), but pleiotropy and heterogeneity existed. Conclusions: In the European population, there is strong genetic evidence that patients with T1D and SLE have a higher risk of developing GO, whereas the effect of GO on ADs is unclear. |
| format | Article |
| id | doaj-art-4f0b4f333349486c8737190d75b88e81 |
| institution | Kabale University |
| issn | 2667-3762 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Elsevier |
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| series | Advances in Ophthalmology Practice and Research |
| spelling | doaj-art-4f0b4f333349486c8737190d75b88e812025-02-12T05:33:06ZengElsevierAdvances in Ophthalmology Practice and Research2667-37622025-02-01516672Causal association between non-thyroidal autoimmune diseases and Graves' ophthalmopathy: A mendelian randomization studyLan Ma0Xue Jiang1Zhijia Hou2Dongmei Li3Beijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Ophthalmology and Visual Science Key Lab, Capital Medical University, Beijing, ChinaBeijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Ophthalmology and Visual Science Key Lab, Capital Medical University, Beijing, ChinaBeijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Ophthalmology and Visual Science Key Lab, Capital Medical University, Beijing, ChinaCorresponding author. Beijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Ophthalmology and Visual Science Key Lab, Capital Medical University, Beijing, China.; Beijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Ophthalmology and Visual Science Key Lab, Capital Medical University, Beijing, ChinaPurpose: This Mendelian randomization (MR) analysis study aimed to investigate the genetic causal relationship between non-thyroidal autoimmune diseases (ADs) and Graves' ophthalmopathy (GO). Materials: Single nucleotide polymorphisms (SNPs) associated with inflammatory bowel disease (IBD), multiple sclerosis (MS), psoriasis vulgaris (PV), type 1 diabetes (T1D), systemic lupus erythematosus (SLE), and rheumatoid arthritis (RA) were obtained from the IEU Open genome-wide association studies (GWAS) database, GWAS data for GO were obtained from the FinnGen database. Bidirectional MR analysis was conducted using inverse variance weighted (IVW) method, weighted median (WM) method and MR-Egger test. Cochran's Q statistic was used to assess the heterogeneity between SNP estimates. MR-Egger regression was used to evaluate horizontal pleiotropy and MR pleiotropy residual sum and outlier (MR-PRESSO) test was used to detect the outliers. Results: For non-thyroidal ADs, the forward MR results using the IVM method showed that T1D (OR = 1.259, 95%CI 1.026–1.5465; P = 0.028) and SLE (OR = 1.807, 95%CI 1.229–2.655; P = 0.003) were correlated with the risk of GO at the genetic level, while there was no evidence showing that IBD, MS, PV and RA were correlated with GO. In the reverse MR study, there was a significant increase in the risk of developing T1D in GO (OR = 1.135, 95%CI 1.018–1.265; P = 0.022), but pleiotropy and heterogeneity existed. Conclusions: In the European population, there is strong genetic evidence that patients with T1D and SLE have a higher risk of developing GO, whereas the effect of GO on ADs is unclear.http://www.sciencedirect.com/science/article/pii/S2667376224000714Graves' ophthalmopathyMendelian randomizationAutoimmune diseasesGenome-wide association studies |
| spellingShingle | Lan Ma Xue Jiang Zhijia Hou Dongmei Li Causal association between non-thyroidal autoimmune diseases and Graves' ophthalmopathy: A mendelian randomization study Advances in Ophthalmology Practice and Research Graves' ophthalmopathy Mendelian randomization Autoimmune diseases Genome-wide association studies |
| title | Causal association between non-thyroidal autoimmune diseases and Graves' ophthalmopathy: A mendelian randomization study |
| title_full | Causal association between non-thyroidal autoimmune diseases and Graves' ophthalmopathy: A mendelian randomization study |
| title_fullStr | Causal association between non-thyroidal autoimmune diseases and Graves' ophthalmopathy: A mendelian randomization study |
| title_full_unstemmed | Causal association between non-thyroidal autoimmune diseases and Graves' ophthalmopathy: A mendelian randomization study |
| title_short | Causal association between non-thyroidal autoimmune diseases and Graves' ophthalmopathy: A mendelian randomization study |
| title_sort | causal association between non thyroidal autoimmune diseases and graves ophthalmopathy a mendelian randomization study |
| topic | Graves' ophthalmopathy Mendelian randomization Autoimmune diseases Genome-wide association studies |
| url | http://www.sciencedirect.com/science/article/pii/S2667376224000714 |
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