# DIAPH2 gene polymorphisms and laryngeal cancer risk in men

**Authors:** Edyta Cichocka, Sylwia Górczyńska-Kosiorz, Maciej Misiołek, Wojciech Ścierski, Anna Koniewska, Grażyna Stryjewska-Makuch, Janusz Gumprecht

PMC · DOI: 10.1007/s00432-024-05820-4 · 2024-06-07

## TL;DR

This study explores how variations in the DIAPH2 gene may influence the risk and progression of laryngeal cancer in men.

## Contribution

The study identifies a specific DIAPH2 gene polymorphism linked to laryngeal cancer stages and smoking behavior in men.

## Key findings

- The rs12851931 polymorphism in DIAPH2 is associated with higher tumor stages in laryngeal cancer patients.
- Homozygotes for rs12851931 are more common among smokers with laryngeal cancer.
- DIAPH2 polymorphisms may contribute to the onset and progression of laryngeal squamous cell carcinoma.

## Abstract

The DIAPH2 gene is one of the genes commonly associated with laryngeal squamous cell carcinoma (LSCC). In our study, we considered the four polymorphisms of this gene, i.e. rs5920828, rs4322175, rs12851931 and rs5921830 as potential genetic risk factors for LSCC.

We determined the genotyping of the genetic variants of DIAPH2 in 230 male patients with histologically confirmed LSCC compared to the European population. Demographic and environmental exposure data of each subject were examined. To conduct the genetic tests, extraction of total DNA was performed. We genotyped all four variants in each patient and determined their frequencies.

In the case of the rs12851931 polymorphism in the DIAPH2 gene, a significant difference was observed in the distribution of the T stage depending on the polymorphism. Heterozygotes were more often associated with T2 stage, while homozygotes were more likely to have higher tumor stages. The rs12851931 homozygotes of DIAPH2 were statistically significantly more prevalent in smokers. The results suggested that rs12851931 polymorphism in DIAPH2 could increase the onset risk of LSCC.

Our results provide further information on the role of the DIAPH2 gene in the pathogenesis of LSCC.

The online version contains supplementary material available at 10.1007/s00432-024-05820-4.

## Linked entities

- **Genes:** DIAPH2 (diaphanous related formin 2) [NCBI Gene 1730]
- **Diseases:** laryngeal squamous cell carcinoma (MONDO:0005595)

## Full-text entities

- **Genes:** DIAPH2 (diaphanous related formin 2) [NCBI Gene 1730] {aka DIA, DIA2, DRF2, POF, POF2, POF2A}
- **Diseases:** LSCC (MESH:D000077195), tumor (MESH:D009369), laryngeal cancer (MESH:D007822)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** rs12851931, rs4322175, rs5921830, rs5920828

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Source: https://tomesphere.com/paper/PMC11156712