Objective To investigate the relationship between leptin receptor (LEPR) gene polymorphism and the risk of gestational diabetes mellitus (GDM) and to provide evidences for developing GDM prevention strategies.

Methods The pregnant women with GDM and hospitalized for deliveries in First Affiliated Hospital of Shanxi Medical University from March 1st 2012 to July 30th 2014 were recruited as cases; a control hospitalized in the same hospital and without GDM was matched to each of the cases by age, gestational months, and residential address. DNA was extracted from totally 320 cases and 318 controls for LEPR gene typing; the relationship between LEPR gene polymorphism and GDM was analyzed with min P test and logistic regression model.

Results The results of min P analysis indicated that LEPR gene was not associated with the risk of GDM (P > 0.05). After adjusting for confounders as maternal age, education level, family monthly income, passive smoking during pregnancy, family history of diabetes, pre-pregnancy body mass index, pregnancy weight gain, and parity, the results of multivariate conditional logistic regression analysis revealed following polymorphic loci genotypes associated significantly with GDM risk among the pregnant women: rs2375675 (odds ratio OR = 2.01, 95% confidence interval 95% CI: 1.11 – 3.75 for CC vs. AA), rs11208591 (OR = 1.86, 95% CI: 1.02 – 3.48 for AA vs. GG), rs10789171 (OR = 1.64, 95% CI: 1.05 – 2.58 for AA vs. GG), rs12074520 (OR = 1.54, 95% CI: 1.02 – 2.35 for CA vs. CC), and rs12566370 (OR = 0.68, 95% CI: 0.48 – 0.95 for AG vs. AA), respectively.

Conclusion The polymorphisms of LEPR gene rs2375675, rs11208591, rs10789171, rs12074520, and rs12566370 are associated with the risk of GDM among pregnant women.