ArticleArchives of medical science : AMS2026
A rare variant in the
Article in Archives of medical science : AMS, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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11 authors.
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Abstract
Introduction: Recurrent pregnancy loss (RPL) occurs in ~1-2% of reproductive women. Previous studies have suggested that altered expression and polymorphisms of interleukin-related genes may be involved in RPL. The aim of this study was to explore the potential presence of interleukin-22 receptor subunit α2 (IL22RA2) mutations in Han Chinese women with unexplained recurrent pregnancy loss (URPL). Material and methods: A total of 328 Han Chinese women with URPL were analyzed for potential mutations in the Results: A rare variant, p.Arg204* (c.610C>T), was identified in 4 out of 328 women with URPL. In contrast, this rare variant was absent in 615 Han Chinese control women without miscarriage history and had a significantly higher mutation frequency when compared with 10,588 Chinese control women from The China Metabolic Analytics Project (ChinaMAP), 4245 East Asians, or 60051 individuals across the world from the Exome Aggregation Consortium (ExAC) database. Evolutionary conservation analysis indicated that this rare variant was highly conserved from human to zebrafish, and in silico analysis suggested that it may be pathogenic. Conclusions: An enrichment of a potentially pathogenic rare variant in the
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