PMID- 31293826
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220409
IS  - 2167-8359 (Print)
IS  - 2167-8359 (Electronic)
IS  - 2167-8359 (Linking)
VI  - 7
DP  - 2019
TI  - Estrogen receptor 1 gene polymorphisms (PvuII and XbaI) are associated with type 
      2 diabetes in Palestinian women.
PG  - e7164
LID - 10.7717/peerj.7164 [doi]
LID - e7164
AB  - 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.
FAU - Ereqat, Suheir
AU  - Ereqat S
AD  - Biochemistry and Molecular Biology Department-Faculty of Medicine, Al-Quds 
      University, East Jerusalem, Palestine.
FAU - Cauchi, Stephane
AU  - Cauchi S
AD  - CNRS, UMR8204, Lille, France.
AD  - INSERM, U1019, Lille, France.
AD  - Universite de Lille, Lille, France.
AD  - Institut Pasteur de Lille, Centre d'Infection et d'Immunite de Lille, Lille, 
      France.
FAU - Eweidat, Khaled
AU  - Eweidat K
AD  - Biochemistry and Molecular Biology Department-Faculty of Medicine, Al-Quds 
      University, East Jerusalem, Palestine.
FAU - Elqadi, Muawiyah
AU  - Elqadi M
AD  - Biochemistry and Molecular Biology Department-Faculty of Medicine, Al-Quds 
      University, East Jerusalem, Palestine.
FAU - Nasereddin, Abedelmajeed
AU  - Nasereddin A
AUID- ORCID: 0000-0001-8162-420X
AD  - Al-Quds Public Health Society, East Jerusalem, Palestine.
LA  - eng
PT  - Journal Article
DEP - 20190628
PL  - United States
TA  - PeerJ
JT  - PeerJ
JID - 101603425
PMC - PMC6601601
OTO - NOTNLM
OT  - CVD
OT  - ESR1
OT  - NGS
OT  - Palestine
OT  - PvuII and XbaI polymorphisms
OT  - T2DM
COIS- The authors declare that they have no competing interests.
EDAT- 2019/07/12 06:00
MHDA- 2019/07/12 06:01
PMCR- 2019/06/28
CRDT- 2019/07/12 06:00
PHST- 2019/02/13 00:00 [received]
PHST- 2019/05/21 00:00 [accepted]
PHST- 2019/07/12 06:00 [entrez]
PHST- 2019/07/12 06:00 [pubmed]
PHST- 2019/07/12 06:01 [medline]
PHST- 2019/06/28 00:00 [pmc-release]
AID - 7164 [pii]
AID - 10.7717/peerj.7164 [doi]
PST - epublish
SO  - PeerJ. 2019 Jun 28;7:e7164. doi: 10.7717/peerj.7164. eCollection 2019.