Abstract
BACKGROUND: Dysregulated expression of long non-coding RNA (lncRNA) TUG1 participates in the etiopathogenesis of polycystic ovary syndrome (PCOS). This study analyzed the genetic association of the TUG1 rs5749201 polymorphism in PCOS patients. METHODS: Genotype and allele distributions of rs5749201 were analyzed in 210 PCOS patients and 230 healthy volunteers. Serum TUG1 levels were detected via qRT-PCR. The relationship between gene polymorphism and PCOS risk was analyzed via multivariate logistic regression. RESULTS: Compared with the control group, the PCOS group had a significantly higher proportion of carriers with TUG1 rs5749201 AA genotype and a lower proportion of TT genotype carriers. Rs5749201 TT genotype carriers had notably reduced PCOS risk. This genetic association was also found in dominant and recessive models, with the locus independently linked to PCOS (OR = 0.427, 95%CI: 0.242-0.753; P = 0.003). AA genotype carriers had higher LDL, TG and FBS than AT/TT genotype carriers. PCOS patients had elevated TUG1 levels, with AA genotype carriers showing the highest. CONCLUSION: TUG1 rs5749201 was linked to PCOS susceptibility, which is correlated with its regulatory role in TUG1 expression.