Scholarlink

Purpose <p>Limited data from genome-wide association studies (GWAS) focusing on oral tongue squamous cell carcinoma (OTSCC) are available. The present study was conducted to explore genetic associations for OTSCC.</p> Methods <p>A GWAS on 376 cases of OTSCC was conducted using the FinnGen Data Freeze-12 dataset. The case-cohort included 205 males and 171 females. Cases with malignancies involving the base of the tongue or lingual tonsil were excluded from the case-cohort. Individuals with no recorded history of malignancy were used as controls (n = 407,067). A Phenome-wide association study (PheWAS) was performed for the lead variants to assess their co-associations with other cancers.</p> Results <p>GWAS analysis identified three genome-wide significant loci associated with OTSCC (<i>p</i> &lt; 5 × 10–8), located at 5p15.33 (rs27067 near gene LINC01511), 10q24 (rs1007771191 near RPS3AP36), and 20p12.3 (rs1438070080 near PLCB1), respectively. PheWAS showed associations of rs27067 mainly with prostate cancer (OR = 1.06, <i>p</i> = 5.41 × 10<sup>–7</sup>), and seborrheic keratosis (OR = 1.11, <i>p</i> = 1.51 × 10<sup>–11</sup>). A co-directional effect with melanoma was also observed (OR = 0.93, <i>p</i> = 6.24 × 10<sup>–5</sup>).</p> Conclusion <p>The GWAS detected two novel genetic associations with OTSCC. Further research is needed to identify the genes at these loci that contribute to the molecular pathogenesis of OTSCC.</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

Novel Genetic Risk Variants Associated with Oral Tongue Squamous Cell Carcinoma

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年4月25日

查看全文
  • Rayan Nikkilä,
  • Antti Mäkitie,
  • Heikki Joensuu,
  • Saara Markkanen,
  • Klaus Elenius,
  • Outi Monni,
  • Aarno Palotie,
  • Elmo Saarentaus,
  • Tuula Salo,
  • Argyro Bizaki-Vallaskangas

摘要

Purpose

Limited data from genome-wide association studies (GWAS) focusing on oral tongue squamous cell carcinoma (OTSCC) are available. The present study was conducted to explore genetic associations for OTSCC.

Methods

A GWAS on 376 cases of OTSCC was conducted using the FinnGen Data Freeze-12 dataset. The case-cohort included 205 males and 171 females. Cases with malignancies involving the base of the tongue or lingual tonsil were excluded from the case-cohort. Individuals with no recorded history of malignancy were used as controls (n = 407,067). A Phenome-wide association study (PheWAS) was performed for the lead variants to assess their co-associations with other cancers.

Results

GWAS analysis identified three genome-wide significant loci associated with OTSCC (p < 5 × 10–8), located at 5p15.33 (rs27067 near gene LINC01511), 10q24 (rs1007771191 near RPS3AP36), and 20p12.3 (rs1438070080 near PLCB1), respectively. PheWAS showed associations of rs27067 mainly with prostate cancer (OR = 1.06, p = 5.41 × 10–7), and seborrheic keratosis (OR = 1.11, p = 1.51 × 10–11). A co-directional effect with melanoma was also observed (OR = 0.93, p = 6.24 × 10–5).

Conclusion

The GWAS detected two novel genetic associations with OTSCC. Further research is needed to identify the genes at these loci that contribute to the molecular pathogenesis of OTSCC.