ArticleJournal of human genetics2008
Positive association of the FTSJ1 gene polymorphisms with nonsyndromic X-linked mental retardation in young Chinese male subjects.
Article in Journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 18 citations in OpenAlex.
- Review
- Triple-Negative Breast Cancer Intrinsic FTSJ1 Favors Tumor Progression and Attenuates CD8+ T Cell Infiltration.Cancers · 2024Article
- Neurodevelopmental disorders: 2022 update.Free neuropathology · 2022Article
- Subcellular relocalization and nuclear redistribution of the RNA methyltransferases TRMT1 and TRMT1L upon neuronal activation.RNA biology · 2021Article
- Context-Dependent Roles of RNA Modifications in Stress Responses and Diseases.International journal of molecular sciences · 2021Review
- Epitranscriptomic regulation of transcriptome plasticity in development and diseases of the brain.BMB reports · 2020Review
- An intellectual disability-associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity.Human mutation · 2020Article
- Review
- Review
- Impact of tRNA Modifications and tRNA-Modifying Enzymes on Proteostasis and Human Disease.International journal of molecular sciences · 2018Review
- The Emerging Field of Epitranscriptomics in Neurodevelopmental and Neuronal Disorders.Frontiers in bioengineering and biotechnology · 2018Review
- Modify or die?--RNA modification defects in metazoans.RNA biology · 2014Review
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To investigate the possible genetic association of nonsyndromic X-linked mental retardation (NS-XLMR) with FTSJ1 gene polymorphisms, a case-control association study was performed focusing on the Chinese Han population in the Qinba mountain region. Three common single nucleotide polymorphisms (SNPs) (rs2268954, rs2070991, rs5905692) in the gene were selected and genotyped using the polymerase chain reaction single-strand confirmation polymorphism (PCR-SSCP) method. Pairwise linkage disequilibrium (LD) analysis showed that the three SNPs were in strong LD (all D' > 0.8). There were significant differences between cases and controls in allele frequency distribution of rs2268954 (P = 0.036), rs2070991 (P = 0.043), and rs5905692 (P = 0.014) and in the distributions of common haplotypes combined by these SNPs (global P = 0.01236) in male subjects. In female subjects, however, no positive results were found. Our results suggest a positive association between the genetic variants of the FTSJ1 gene and NS-XLMR in young male subjects in the Chinese Han population in the Qinba region.
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