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Sex-stratified autosomal association analysis reveals dimorphic genetic risk factors in non-systemic juvenile idiopathic arthritis.

· 2026-09-09 · 原文

DOI:10.64898/2026.09.08.26362497v1?rss=1

Objectives Juvenile idiopathic arthritis (JIA) is a collection of childhood onset rheumatic conditions that more frequently occur in females in most subtypes. Sex influences disease biology, treatment trajectories, and patient outcomes, however, no study to date has investigated the interaction of sex with autosomal genetic risk to JIA. Methods Genotype data from 3748 JIA cases (2551 female, 1197 male) and 9196 controls (5136 female, 4060 male) were analysed using a sex-stratified genome-wide association analysis. Systemic JIA was excluded. HLA imputation and fine-mapping were performed using SNP2HLA. Sex-specific effects were assessed using an omnibus sex-interaction test for multi-allelic amino acid positions. A subtype specific analysis was repeated in rheumatoid factor (RF) negative po

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1. 人话版

Objectives Juvenile idiopathic arthritis (JIA) is a collection of childhood onset rheumatic conditions that more frequently occur in females in most subtypes.

Sex influences disease biology, treatment trajectories, and patient outcomes, however, no study to date has investigated the interaction of sex with autosomal genetic risk to JIA.

2. 领域脉络

来源板块:板块一 · 研究前沿。

3. 机制拆解

Systemic JIA was excluded.

4. 证据与数字

Methods Genotype data from 3748 JIA cases (2551 female, 1197 male) and 9196 controls (5136 female, 4060 male) were analysed using a sex-stratified genome-wide association analysis.

HLA imputation and fine-mapping were performed using SNP2HLA.

5. 反例与边界

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6. 跨领域连接与意外收获

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