Scholarlink

Background <p>While epidemiological studies suggest an association between leukocyte telomere length (LTL) and renal cell carcinoma (RCC), the genetic basis underlying this relationship remains to be elucidated.</p> Methods <p>We analyzed genome-wide association studies (GWAS) summary statistics from LTL (<i>n</i> = 472,174) and RCC(3,926 cases; 378,749 controls) cohorts. Comprehensive cross-trait analyses examined genetic correlations, causality, tissue enrichment, and pleiotropic loci.</p> Results <p>We identified significant genetic correlation between LTL and RCC (correlation = 0.0379, <i>p</i> = 0.0012) at both genome-wide and local levels. Meta-analysis revealed 25 novel pleiotropic loci, including a co-localized variant (rs1874330). Novel tissue-specific enrichment was observed in uterine and testicular tissues, with shared functional genes affecting both traits. Mendelian randomization provided evidence for a causal effect of LTL on RCC risk.</p> Conclusion <p>This study establishes genetic links between LTL and RCC through shared architecture, tissue-specific patterns, and causal pathways, suggesting potential therapeutic targets and risk markers for future validation.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Exploring the shared genetic architecture between leukocyte telomere length and renal cell carcinoma: a cross-trait analysis

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年10月8日

查看全文
  • Li Wang,
  • Jian-wei Yang,
  • Kang-yu Wang,
  • Si-yu Chen,
  • Li Yang

摘要

Background

While epidemiological studies suggest an association between leukocyte telomere length (LTL) and renal cell carcinoma (RCC), the genetic basis underlying this relationship remains to be elucidated.

Methods

We analyzed genome-wide association studies (GWAS) summary statistics from LTL (n = 472,174) and RCC(3,926 cases; 378,749 controls) cohorts. Comprehensive cross-trait analyses examined genetic correlations, causality, tissue enrichment, and pleiotropic loci.

Results

We identified significant genetic correlation between LTL and RCC (correlation = 0.0379, p = 0.0012) at both genome-wide and local levels. Meta-analysis revealed 25 novel pleiotropic loci, including a co-localized variant (rs1874330). Novel tissue-specific enrichment was observed in uterine and testicular tissues, with shared functional genes affecting both traits. Mendelian randomization provided evidence for a causal effect of LTL on RCC risk.

Conclusion

This study establishes genetic links between LTL and RCC through shared architecture, tissue-specific patterns, and causal pathways, suggesting potential therapeutic targets and risk markers for future validation.