A novel SNP in HUWE1 promoter confers increased risk of NOA by affecting the RA/RARα pathway in Chinese individuals.
Xudong ShanXueguang ZhangGelin HuangJiao LvZixia YeYing-Teng ZhangXiaohui JiangJianxing ChengHaocheng LinJiang HuiHuanxun YueZhengrong WangWenming XuPublished in: Andrology (2023)
An HUWE1 promoter SNP significantly downregulates its expression in NOA patients. Mechanistically, HUWE1 regulates germ cell differentiation during meiotic prophase through its participation in RA/RARα signaling and subsequent modulation of γH2AX. Taken together, these results strongly suggest that the genetic polymorphisms of HUWE1 are closely related to spermatogenesis and NOA pathogenesis. This article is protected by copyright. All rights reserved.
Keyphrases
- end stage renal disease
- dna methylation
- genome wide
- rheumatoid arthritis
- newly diagnosed
- ejection fraction
- gene expression
- transcription factor
- chronic kidney disease
- poor prognosis
- peritoneal dialysis
- disease activity
- patient reported outcomes
- prognostic factors
- physical activity
- high density
- binding protein
- genetic diversity
- systemic sclerosis