Chromosomal polymorphisms and susceptibility to menstrual disorders: a retrospective analysis of 24,578 women

Abstract

Purpose: To evaluate the association between the polymorphic variants of chromosomes and menstrual disorders.

Methods: The data from our previous retrospective, single-center cohort study were re-analyzed. Women with regular menstruation were included as controls. Women with menstrual cycle abnormalities were subgrouped according to reproductive causes. The frequency of chromosomal polymorphisms was compared between groups. Regression analysis was used to adjust for potential confounding variables.

Result: A total of 24,578 women composed of 8062 women with regular cycles as the control group and 16,516 women as the menstrual cycle irregularity group were included. When compared with the control group, the incidence of chromosomal polymorphisms in the total menstrual cycle irregularity group, Polycystic ovary syndrome group, and Primary ovarian insufficiency group were significantly higher (4.49% versus 5.34%, P = 0.004, 4.49% versus 5.35%, P = 0.018 and 4.49% versus 5.94%, P = 0.002, respectively). The incidences of inv(9) in the Primary ovarian insufficiency group were significantly higher than that in the control individuals (1.0% versus 1.6%, P = 0.024). Logistic regression analysis showed an effect of chromosomal polymorphisms on menstrual cycle irregularity (OR: 1.62, 95% CI: 1.234-2.187, P = 0.007; adjusted OR: 1.46, 95% CI: 1.153-1.819, P < 0.001). The result demonstrated an effect of chromosomal polymorphisms on the Primary ovarian insufficiency group (OR: 2.52, 95% CI: 1.307-5.177, P < 0.001; adjusted OR: 2.61, 95% CI: 1.371-4.605, P < 0.001).

Conclusion: The study suggests chromosomal polymorphisms adversely affect female menstrual cycle irregularity.

Keywords: Chromosomal polymorphism; Menstrual abnormalities; Ovarian function; Polycystic ovary syndrome; Primary ovarian insufficiency.