Correlation between polymorphism of estrogen receptor gene and gestational diabetes mellitus

Objective To investigate the relationship between genetic polymorphisms of estrogen receptor (ER)α, β and gestational diabetes mellitus(GDM). Methods A total of 392 patients with GDM(GDM group) and 308 pregnant women with normal glucose tolerance (control group) who underwent diabetes screening were included in this study in the clinic of the Maternal and Child Health Care Hospital of Zibo from May 2016 to December 2017. The diagnosis of GDM was based on the 2014 diagnostic criteria of the Department of Obstetrics and Gynecology and the Department of Perinatal Medicine of the Chinese Medical Association. Polymorphisms of ERα and ERβ genes (XbaⅠ, Pvu Ⅱ, Rsa Ⅰ, Alu Ⅰ) were examined by polymerase chain reaction-based restriction fragment length polymorphism (RFLP) and the haplotype analysis was conducted by SHEsis on-line computing platform. Results There was no significant difference in the distribution frequency of genotype and allele in enzyme sites of XbaⅠ, Pvu Ⅱ and Rsa Ⅰ between these two groups(P=0.870, 0.287, 0.904, 0.982, 0.725, 0.720). In enzyme sites of AluⅠ, there was significant difference in the distribution frequency of genotype and allele between these two groups (P=0.007, 0.003). The risk of GDM in persons with a allele was 1.559-fold compared with persons with A allele (95%CI: 1.161-2.095, P=0.003). The frequency of R-a haplotype was significantly higher in GDM group than that in control group(OR=1.562, 95%CI: 1.162-2.099, P=0.003). Conclusion The polymorphism of ERβ gene but not ERα gene is associated with the susceptibility of GDM, and the R, a allele may be the susceptible alleles. Key words: Estrogen receptor; Gene polymorphism; Single nucleotide polymorphism; Gestational diabetes mellitus