ArticleJournal of assisted reproduction and genetics2019
Association of UHRF1 gene polymorphisms with oligospermia in Chinese males.
Article in Journal of assisted reproduction and genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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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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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- A DNA Methylation Perspective on Infertility.Genes · 2023Review
- Association of ABO blood groups with ovarian reserve: a retrospective cohort study in Chinese Han women younger than 40 years with infertility.Journal of ovarian research · 2022Article
- Epigenetics of Male Infertility: The Role of DNA Methylation.Frontiers in cell and developmental biology · 2021Review
- UHRF1: a jack of all trades, and a master epigenetic regulator during spermatogenesis.Biology of reproduction · 2020Article
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Authors and funding
10 authors at 3 institutions in 1 country.
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Abstract
backgroundUHRF1 plays an important role in maintaining DNA methylation patterns during spermatogenesis. This study was performed to evaluate the association between UHRF1 gene variations and infertility in males with oligozoospermia in a Chinese population.
methodsIn this case-control study of 735 Chinese men, single-nucleotide polymorphism (SNP) genotypes and alleles in the UHRF1 gene were assessed by direct sequencing. The effects of the mutations on UHRF1 transcription were investigated using a dual-luciferase reporter gene assay.
resultsWe identified 24 SNPs, including nine SNPs in the promoter region, three in the 5' untranslated region, five in introns, and seven in exons. Interestingly, the genotype frequencies of SNP rs2656927 (P = 0.014) and rs8103849 (P < 0.001) significantly differed between men with oligozoospermia in case group 1 and normozoospermic men. Moreover, four variants (three were novel) were detected only in the patient group, with two in introns and the others in the promoter region. The results of the luciferase assay showed that the -1615C>T-C and -1562A>G-A alleles increased luciferase activity compared with the -1615C>T-T and -1562A>G-G alleles.
conclusionsWe detected two SNPs in the UHRF1 gene showing a significant difference between the case and control groups. Two screened SNPs affected UHRF1 promoter activity, improving the understanding of the pathophysiology of oligozoospermia.
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