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染色体9q22.33的细度映射确定了卵巢癌的候选因果变异

Tongyu Xing¹, Yanrui Zhao¹, Lili Wang¹

¹Department of Epidemiology and Biostatistics, Key Laboratory of Molecular Cancer Epidemiology, Key Laboratory of Prevention and Control of Human Major Diseases, Ministry of Education, Tianjin's Clinical Research Center for Cancer, National Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute and Hospital, Tianjin Medical University, Tianjin, China.

|February 19, 2024

概括

染色体9q22.33上的新型遗传变异rs7027650与上皮卵巢癌 (EOC) 风险有关. 这种变异可能调节COL15A1基因表达,为卵巢癌机制提供了洞察力.

科学领域:

遗传学遗传学是一个
在瘤学瘤学.
分子生物学分子生物学

背景情况:

卵巢癌是一种复杂的多基因疾病,具有重要的遗传贡献.
一项先前的全基因组关联研究 (GWAS) 在汉族中国人群中在9q22.33染色体上确定了上皮卵巢癌 (EOC) 的易感位点.
这种关联的确切机制尚不清楚.

研究的目的:

精确地绘制9q22.33基因组区域,并确定与EOC风险相关的特定变异.
调查已识别的变种影响EOC易感性的功能机制.
探索rs7027650在调节COL15A1基因表达中的作用.

主要方法:

对130 kb区域的精细映射分析,包括1039个变体.
关联研究评估了10个选定的变体在1099个EOC病例和1591个对照中.
表达量的特征位点 (eQTL) 分析,路西法酶记者基因测定和电泳性移动性转移测定 (EMSA).

主要成果:

两个变体rs7027650 (P = 1.91 × 10^-7) 和rs1889268 (P = 3.71 × 10^-2),与EOC风险有显著的相关性.
rs7027650与COL15A1基因表达有显著的相关性 (P = 0.009).
rs7027650在COL15A1促进体区域中表现出基因特异结合,降低了它的活性.

结论:

rs7027650是9q22.33区域的潜在因果变异,与卵巢癌风险相关.
这种变异可能通过调节COL15A1基因表达来发挥作用.
这些发现为卵巢癌的遗传基础提供了分子洞察力.

关键词:

表达式定量特征位置分析分析.精细尺度的映射绘制.功能注释功能注释遗传变体的遗传变体卵巢癌是发生在卵巢中的癌症.

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