Genetic polymorphism of estrogen receptor alpha gene in Egyptian women with type II diabetes mellitus

Abstract

Estrogen might play an important role in type 2 diabetes mellitus pathogenesis. A number of polymorphisms have been reported in the estrogen receptor alpha gene including the XbaI and PvuII restriction enzyme polymorphisms. The aim of this study was to determine if ESRα gene polymorphisms are associated with type 2 diabetes mellitus and correlated with lipid profile. Ninety diabetic Egyptian patients were compared with forty healthy controls. ESRα genotyping of PvuII and XbaI was performed using restriction fragment length polymorphism analysis. Our study showed that there is more significant difference in the frequency of C and G polymorphic allele between patients and control groups in PvuII and XbaI respectively. Also carriers of minor C and G alleles of PvuII and XbaI gene polymorphisms were associated with increased fasting blood glucose and disturbance in lipid profile as there is an increase in total cholesterol, triglycerides and Low density lipoprotein. So findings of present study suggest the possibility that PvuII and XbaI polymorphisms in ERα are related to T2DM and with increased serum lipids among Egyptian population.

Peer Review #1 of "Estrogen receptor 1 gene polymorphisms (PvuII and XbaI) are associated with type 2 diabetes in Palestinian women (v0.1)"

“…In this study, the frequency for ESR1 PvuII and XbaI alleles and genotypes in Palestinian 231 women (n=214) was evaluated. Our results reported that the ESR1 PvuII C and XbaI G allele 232 frequencies were similar to other studies among Arab population (El-Beshbishy et al 2015; 233 Motawi et al 2015). However, several studies showed distinct prevalence for these two 234 polymorphisms, particularly the XbaI alleles (Ganasyam et al 2012).…”

Interactive role of diabetes mellitus and female sex in the risk of cholangiocarcinoma: A population-based nested case-control study

“…The annual incidence of DM has reached 0.5%–1% of Taiwan's total population, suggesting that there are at least 100,000 new cases every year. In addition, there has been a sharp rise in the prevalence of diabetes among Taiwanese citizens aged 65 years and older (from 8.7% in 1989 to 15.1% in 1999), as reported by the Taiwanese Department of Health [28]. Our data analysis demonstrated that compared with the controls, both the patients with ICC and ECC were more likely to have DM.…”

Peer Review #2 of "Estrogen receptor 1 gene polymorphisms (PvuII and XbaI) are associated with type 2 diabetes in Palestinian women (v0.1)"

“…Manuscript to be reviewed agreement, PvuII and XbaI and other polymorphisms across the ESR1 gene have been associated with risk of T2DM as reported in the Chinese (Huang et al 2006), African-Americans, European-Americans (Sale et al 2004), Hungarians (Speer et al 2001) and Egyptian women (Motawi et al 2015). In this study, the frequency for ESR1 PvuII and XbaI alleles and genotypes in Palestinian women (n=214) was evaluated.…”

“…All DNA samples were genotyped for the T/C, rs2234693, and A/G, rs9340799, also known PvuII and XbaI polymorphisms, respectively using amplicon based next generation sequencing (NGS). Briefly, two primers (forward and reverse) were used to target the 2 SNPs as previously described (Motawi et al 2015). Both primers were modified with over hanged Illumina adaptor sequences at the 5′ ends (italic bolded, Table S1) to target a partial sequence of 119 bp in length with a final product of 186 bp using conventional thermocycler.…”