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青少年特发性关节炎与原发性卵巢功能衰竭:混合性别队列的两样本孟德尔随机分析。

Juvenile idiopathic arthritis and primary ovarian failure: a two-sample Mendelian randomization analysis in a mixed-gender cohort.

机构信息

Department of Obstetrics and Gynecology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China.

Department of Laboratory Medicine, The Second People's Hospital of Lianyungang & The Oncology Hospital of Lianyungang, Xuzhou Medical University Lianyungang Second Hospital & Jiangsu University Lianyungang Second Hospital, Lianyungang, China.

出版信息

Front Endocrinol (Lausanne). 2024 May 16;15:1340993. doi: 10.3389/fendo.2024.1340993. eCollection 2024.

DOI:10.3389/fendo.2024.1340993
PMID:38818501
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11137172/
Abstract

BACKGROUND

The causal relationship between juvenile idiopathic arthritis (JIA) and primary ovarian failure (POF) remains uncertain. To elucidate this relationship, we employed a two-sample Mendelian randomization analysis.

METHODS

The single nucleotide polymorphisms (SNPs) associated with JIA were obtained from a previously published genome-wide association study (GWAS), while the pooled data for POF originated from the FinnGen consortium. The study populations consisted exclusively of individuals of European descent. In our Mendelian randomization analysis, we performed inverse-variance weighted analysis, weighted-median analysis, weighted-mode analysis and Mendelian randomization-Egger regression analysis, supplemented by sensitivity analyses to validate the accuracy and robustness of the findings.

RESULTS

The IVW (OR = 1.23, 95% CI 1.06-1.43; P = 0.007) and weighted median (OR = 1.25, 95% CI 1.06-1.47; P = 0.009), along with sensitivity analysis validation, provide compelling evidence of a significant causal association between JIA and POF.

CONCLUSION

The study revealed a significant causal association between genetically predicted JIA and POF, indicating that JIA significantly elevates the risk of developing POF. Therefore, it is recommended to implement screening for premature ovarian failure in women diagnosed with JIA.

摘要

背景

幼年特发性关节炎(JIA)与原发性卵巢功能衰竭(POF)之间的因果关系尚不确定。为了阐明这种关系,我们采用了两样本孟德尔随机化分析。

方法

与 JIA 相关的单核苷酸多态性(SNP)来自先前发表的全基因组关联研究(GWAS),而 POF 的汇总数据来自 FinnGen 联盟。研究人群仅由欧洲血统的个体组成。在我们的孟德尔随机化分析中,我们进行了逆方差加权分析、加权中位数分析、加权模式分析和孟德尔随机化-Egger 回归分析,并进行了敏感性分析以验证结果的准确性和稳健性。

结果

IVW(OR=1.23,95%CI 1.06-1.43;P=0.007)和加权中位数(OR=1.25,95%CI 1.06-1.47;P=0.009)以及敏感性分析验证,为 JIA 和 POF 之间存在显著的因果关联提供了有力的证据。

结论

该研究揭示了遗传预测的 JIA 与 POF 之间存在显著的因果关联,表明 JIA 显著增加了发生 POF 的风险。因此,建议对诊断为 JIA 的女性进行早期卵巢衰竭筛查。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e286/11137172/97f192eab884/fendo-15-1340993-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e286/11137172/a810ebe7b633/fendo-15-1340993-g001.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e286/11137172/16b2a8552246/fendo-15-1340993-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e286/11137172/554862467edf/fendo-15-1340993-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e286/11137172/97f192eab884/fendo-15-1340993-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e286/11137172/a810ebe7b633/fendo-15-1340993-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e286/11137172/d4d884e1da7d/fendo-15-1340993-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e286/11137172/16b2a8552246/fendo-15-1340993-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e286/11137172/554862467edf/fendo-15-1340993-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e286/11137172/97f192eab884/fendo-15-1340993-g005.jpg

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