Abstract
Vulvovaginal candidiasis (VVC) affects 75% of women worldwide at least once in their lifetime, with up to 9% of women experiencing recurrent episodes (RVVC). Genetic differences may play a role in women developing recurrent VVC infections. Thus, we investigated genetic host factors that may increase the risk of RVVC in women from an African population. We conducted a case-control study in women in Nairobi Kenya, to identify genetic risk factors for RVVC. Our genome-wide association study compared women with RVVC (n = 174) to those with acute VVC (n = 157), and with controls (n = 347). The control group included both symptomatic but uninfected women (n = 246) and asymptomatic/healthy women (n = 101). We identified several genomic variants linked to increased RVVC susceptibility (P < 10(-5)), with the key ones being SNP rs8181503 found near the MS4A12 gene (P = 9.28 × 10(-7), odds ratio (OR) = 0.46), and SNP rs58936172 located near the TMEM39A gene (P = 8.96 × 10(-6), OR = 2.42). Pathway enrichment analysis revealed enrichment of genetic variants linked to increased risk of RVVC in genes involved in metabolic, disease signalling, and cell adhesion pathways. These included pathways related to gluconeogenesis, fatty acid metabolism, linoleic acid metabolism, pentose phosphate, chemotaxis, and fibroblast growth factor signalling pathways. The genes and pathways identified in our study may help to understand the susceptibility to RVVC in African populations, to improve patient care.