Genetic variants linked to vasomotor symptoms

Associations exist between genetic variants and vasomotor symptoms (VMS), such as hot flashes and night sweats, and these relations are not limited to variations in sex-steroid metabolism genes, according to a recent study.

The investigators searched PubMed and Embase databases in line with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidance. Studies assessing the associations between genetic variation and VMS were included. Those focusing on medication interventions or prevention or treatment of breast cancer were excluded.

A total of 202 unique citations were identified, of which 18 met the eligibility criteria. Sample sizes ranged from 51 to 17,695. Eleven studies had fewer than 500 participants, while two had ≥1,000.

Genetic variants in 14 of the 26 genes assessed in candidate gene studies showed statistically significant associations with VMS. Seven studies focused on the cytochrome P450 family 1 subfamily A member 1 (CYP1B1) gene. However, the strength and statistical significance of associations of CYP1B1 variants with VMS were inconsistent.

In a genome-wide association study, 14 single-nucleotide variants in the tachykinin receptor 3 gene showed statistically significant associations with VMS.

Of note, the heterogeneity across trials with regard to VMS measurement methods and effect measures precluded quantitative meta-analysis. Moreover, there were few studies of each specific genetic variant. Further research is warranted to confirm and extend these findings, according to the investigators.

Nearly seven in 10 women report experiencing VMS, but the aetiology of VMS is not clearly understood, they noted.