Estrogen receptor 1 gene polymorphisms (PvuII and XbaI) are associated with type 2 diabetes in Palestinian women Ereqat, Suheir Cauchi, Stéphane Eweidat, Khaled Elqadi, Muawiyah Nasereddin, Abedelmajeed 2019-11-17T18:00:16Z 2019-11-17T18:00:16Z 2019-06-28
dc.description.abstract Background: Type 2 diabetes mellitus (T2DM) is a multifactorial disease where both genetic and environmental factors contribute to its pathogenesis. The PvuII and XbaI polymorphisms of the estrogen receptor 1 (ESR1) gene have been variably associated with T2DM in several populations. This association has not been studied in the Palestinian population. Therefore, the aim of this study was to investigate the association between the PvuII and XbaI variants in the ESR1 and T2DM and its related metabolic traits among Palestinian women. Methods: This case–control study included 102 T2DM and 112 controls in which PvuII and XbaI variants of the ESR1 gene were genotyped using amplicon based next generation sequencing (NGS). Results: Allele frequencies of both PvuII and XbaI variants were not significantly different between patients and control subjects (P > 0.05). In logestic regression analysis adjusted for age and BMI, the ESR1 PvuII variant was associated with risk of T2DM in three genotypic models (P < 0.025) but the strongest association was observed under over-dominant model (TT+CC vs. TC) (OR = 2.32, CI [1.18–4.55] adjusted P = 0.013). A similar but non-significant trend was also observed for the ESR1 XbaI variant under the over-dominant model (AA+GG vs. AG) (OR = 2.03, CI [1.05–3.95]; adjusted P = 0.035). The frequencies of the four haplotypes (TA, CG, CA, TG) were not significantly different in the T2DM patients compared with control group (P > 0.025). Among diabetic group, an inverse trend with risk of cardio vascular diseases was shown in carriers of CG haplotype compared to those with TA haplotype (OR = 0.28, CI [0.09–0.90]; adjusted P = 0.035). Further, stratified analyses based on ESR1 PvuII and XbaI genotypes revealed no evidence for association with lipid levels (TC, TG, HDL, LDL). Conclusions: This is the first Palestinian study to conclude that ESR1 PuvII and XbaI variants may contribute to diabetes susceptibility in Palestinian women. Identification of genetic risk markers can be used in defining high risk subjects and in prevention trials. en_US
dc.identifier.citation TY - JOUR AU - Ereqat, Suheir AU - Cauchi, Stéphane AU - Eweidat, Khaled AU - Elqadi, Muawiyah AU - Nasereddin, Abedelmajeed PY - 2019/06/28 SP - e7164 T1 - Estrogen receptor 1 gene polymorphisms (PvuII and XbaI) are associated with type 2 diabetes in Palestinian women VL - 7 DO - 10.7717/peerj.7164 JO - PeerJ ER - en_US
dc.identifier.issn 2167-8359
dc.language.iso en en_US
dc.subject T2DM en_US
dc.subject ESR1 en_US
dc.subject PvuII and XbaI polymorphisms en_US
dc.subject NGS en_US
dc.subject CVD en_US
dc.subject Palestine en_US
dc.title Estrogen receptor 1 gene polymorphisms (PvuII and XbaI) are associated with type 2 diabetes in Palestinian women en_US
dc.type Article en_US
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