Sex-specific association of the rs4759314 polymorphism in the HOTAIR gene with urinary system cancer development

Abstract

The search for genetic markers of cancer remains one of the priority areas in oncology. Sex-specific genetic features of tumor development, particularly in urinary system tumors, are well documented.

The aim of this study was to investigate the possible association between the rs4759314 polymorphism of the long non-coding RNA HOTAIR gene and the development of urinary system cancers (USCs) in patients of different sexes.

Methods. Whole venous blood samples were obtained from 242 patients with USCs (101 patients with clear cell renal cell carcinoma [CCRCC] and 141 patients with transitional cell carcinoma of the urinary bladder [TCCUB]). Genotyping of the rs4759314 site of the HOTAIR gene was performed using real-time polymerase chain reaction (Real-time PCR) with the TaqMan assay C__27930754_10. Statistical analyses were conducted using Prism (version 10.4.1) and R (version 4.4.2) software.

Results. No significant differences were observed in the distribution of genotypes (AA, AG, GG) or alleles (А, G) for the rs4759314 polymorphism of the HOTAIR gene between patients with USCs and individuals in the control group (P = 0.88871, χ² = 0.02016 for alleles; P = 0.9788, χ² = 0.0007095 for genotypes). However, sex-specific differences in the distribution of HOTAIR gene allelic variants were identified. No overall association was found between the rs4759314 polymorphism and the development of USCs.

Conclusions. The distribution of rs4759314 polymorphic variants of the HOTAIR gene differs between male and female patients with USCs, with carriers of the minor allele being more common among women than among men (P = 0.0105).