Abstract：
OBJECTIVE: Due to the complexity of drug-induced lupus (DIL) pathogenesis, more susceptibility factors need to be discovered. FAM210B is a new mitochondrial protein whose function has not been fully elucidated. This study will explore whether there is a correlation between FAM210B and the risk of DIL.
METHODS: At first, we extracted three FAM210B genetic variants from the GTEx database (n = 948), and extracted their corresponding genome-wide association study (GWAS) summary statistics from DIL (101 DIL cases and 218691 controls). Then, we performed a Mendelian randomization (MR) study to evaluate the causal association of the expression of FAM210B with DIL using inverse-variance weighted (IVW), the weighted median, MR-Egger, and MR-PRESSO test.
RESULTS: We successfully extracted three FAM210B single-nucleotide polymorphisms (SNPs) (rs116032784, rs34361943 and rs33923703) from the GTEx_Analysis_v8_eQTL data that can reduce FAM210B expression. The results of the MR analysis showed that genetically reduced expression of FAM210B was significantly associated with increased risk of DIL in European ancestry based on the IVW method (β = 1.037, p = 0.001, odds ratio [OR] = 2.821, 95% confidence interval [CI]:1.495-5.322).
CONCLUSIONS: MR analysis showed a causal relationship between FAM210B expression and the risk of DIL disease. Our results suggested that FAM210B may be a marker that can mark susceptibility of DIL in the future. It provides evidence for the study of DIL, but its specific mechanism of action in DIL needs to be further studied. Key Points •This is the first MR analysis to examine the association between FAM210B and DIL. •The findings of this study suggested that reduced FAM210B expression is associated with the increased risk of DIL. •FAM210B may be a marker that can mark susceptibility of DIL in the future.
METHODS: At first, we extracted three FAM210B genetic variants from the GTEx database (n = 948), and extracted their corresponding genome-wide association study (GWAS) summary statistics from DIL (101 DIL cases and 218691 controls). Then, we performed a Mendelian randomization (MR) study to evaluate the causal association of the expression of FAM210B with DIL using inverse-variance weighted (IVW), the weighted median, MR-Egger, and MR-PRESSO test.
RESULTS: We successfully extracted three FAM210B single-nucleotide polymorphisms (SNPs) (rs116032784, rs34361943 and rs33923703) from the GTEx_Analysis_v8_eQTL data that can reduce FAM210B expression. The results of the MR analysis showed that genetically reduced expression of FAM210B was significantly associated with increased risk of DIL in European ancestry based on the IVW method (β = 1.037, p = 0.001, odds ratio [OR] = 2.821, 95% confidence interval [CI]:1.495-5.322).
CONCLUSIONS: MR analysis showed a causal relationship between FAM210B expression and the risk of DIL disease. Our results suggested that FAM210B may be a marker that can mark susceptibility of DIL in the future. It provides evidence for the study of DIL, but its specific mechanism of action in DIL needs to be further studied. Key Points •This is the first MR analysis to examine the association between FAM210B and DIL. •The findings of this study suggested that reduced FAM210B expression is associated with the increased risk of DIL. •FAM210B may be a marker that can mark susceptibility of DIL in the future.
摘要：
目的：由于药物性狼疮（DIL）发病机制的复杂性，需要发现更多的易感性因素。FAM210B是一种新的线粒体蛋白，其功能尚未完全阐明。本研究将探讨FAM210B与DIL风险之间是否存在相关性。
方法：首先，我们从GTEx数据库中提取了三个FAM210B遗传变异（n=948），并从DIL（101例DIL和218691例对照）中提取了相应的全基因组关联研究（GWAS）汇总统计数据。然后，我们进行了孟德尔随机化（MR）研究，以使用逆方差加权（IVW）评估FAM210B表达与DIL的因果关系，加权中位数，MR-Egger,和MR-PRESSO测试。
结果：我们从GTEx_Analysis_v8_eQTL数据中成功提取了三个可以降低FAM210B表达的FAM210B单核苷酸多态性（SNP）（rs116032784，rs34361943和rs33923703）。MR分析结果表明，基于IVW方法，在欧洲血统中，FAM210B的基因表达降低与DIL风险增加显着相关（β=1.037，p=0.001，比值比[OR]=2.821，95％置信区间[CI]：1.495-5.322）。
结论：MR分析显示FAM210B表达与DIL疾病风险之间存在因果关系。我们的结果表明，FAM210B可能是将来可以标记DIL易感性的标记。它为DIL的研究提供了证据，但其在DIL中的具体作用机制有待进一步研究。关键点•这是第一个检查FAM210B和DIL之间关联的MR分析。•这项研究的结果表明，FAM210B表达减少与DIL风险增加有关。•FAM210B可能是未来可以标记DIL易感性的标记。
方法：首先，我们从GTEx数据库中提取了三个FAM210B遗传变异（n=948），并从DIL（101例DIL和218691例对照）中提取了相应的全基因组关联研究（GWAS）汇总统计数据。然后，我们进行了孟德尔随机化（MR）研究，以使用逆方差加权（IVW）评估FAM210B表达与DIL的因果关系，加权中位数，MR-Egger,和MR-PRESSO测试。
结果：我们从GTEx_Analysis_v8_eQTL数据中成功提取了三个可以降低FAM210B表达的FAM210B单核苷酸多态性（SNP）（rs116032784，rs34361943和rs33923703）。MR分析结果表明，基于IVW方法，在欧洲血统中，FAM210B的基因表达降低与DIL风险增加显着相关（β=1.037，p=0.001，比值比[OR]=2.821，95％置信区间[CI]：1.495-5.322）。
结论：MR分析显示FAM210B表达与DIL疾病风险之间存在因果关系。我们的结果表明，FAM210B可能是将来可以标记DIL易感性的标记。它为DIL的研究提供了证据，但其在DIL中的具体作用机制有待进一步研究。关键点•这是第一个检查FAM210B和DIL之间关联的MR分析。•这项研究的结果表明，FAM210B表达减少与DIL风险增加有关。•FAM210B可能是未来可以标记DIL易感性的标记。
