Association of estrogen receptor gene polymorphisms with type 1 diabetes mellitus in children / 中华内分泌外科杂志

ABSTRACT

Objective:To investigate the relationships of estrogen receptor-α (ESR1) gene PvuⅡ (rs2234693, C>T) and XbaⅠ (rs9340799, A>G) polymorphisms and susceptibility of type 1 diabetes for female children (T1D) .Methods:From Jan. 2016 to Dec. 2019, 86 female children with newly diagnosed T1D who were admitted to Chongqing Three Gorges Central hospital were selected as the study subjects, and 100 healthy children who underwent physical examination in our hospital during the same period were selected as the healthy control. The height, weight and related metabolic indexes of the subjects were measured. The ESR1 gene was genotyped by capillary electrophoresis and SNaPshot. The mRNA expression of ESR1 gene was detected by real-time fluorescence quantitative polymerase chain reaction (RT-PCR) .Results:Genotyping results showed that PvuII genotype distribution between T1D group and the control group was statistically significant ( χ2=11.672, P=0.003) , but XbaI genotype distribution between T1D patients and controls had no significant difference ( χ2=5.433, P=0.066) . PvuII locus T allele frequency and XbaI locus G allele frequency were significantly in T1D group higher than in the control group (PvuII T vs C OR=1.909, 95% CI=1.261-2.892, P=0.002; XbaI G vs A OR=1.815, 95% CI=1.112-2.961, P=0.016) . Glycated hemoglobin (HbA1c) and total cholesterol (TC) levels in T1D patients with PvuII T allele were significantly higher than those with CC genotype (all P<0.05) . Low-density lipoproteins (LDL-C) and total cholesterol (TC) levels in T1D patients with XbaI G allele were significantly higher than those with AA genotypes (both P<0.05) . The relative expression of ESR1 gene mRNA in T1D patients was significantly lower than that in the control group (0.42±0.05 vs 1.04±0.16, t=6.227, P<0.001) . The relative expression of ESR1 gene mRNA in T1D patients with PvuII CC, CT and TT genotypes was statistically different ( F=5.823, P<0.001) , and the relative ESR1 gene mRNA in T1D patients with XbaI AA, AG and GG genotypes was also statistically different ( F=5.415, P<0.001) . Conclusion:PvuII and XbaI olymorphismsof ESR1 genes may be involved in the occurrence and development of T1D in female children by influencing gene expression.