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01.12.2018 | Research article | Ausgabe 1/2018 Open Access

BMC Endocrine Disorders 1/2018

Estrogen receptor 1 gene polymorphisms are associated with metabolic syndrome in postmenopausal women in China

Zeitschrift:
BMC Endocrine Disorders > Ausgabe 1/2018
Autoren:
Lingxia Zhao, Xuemei Fan, Lin Zuo, Qiang Guo, Xiaole Su, Guangxia Xi, Ziyan Zhang, Jianlin Zhang, Guoping Zheng
Wichtige Hinweise

Electronic supplementary material

The online version of this article (https://​doi.​org/​10.​1186/​s12902-018-0289-4) contains supplementary material, which is available to authorized users.

Abstract

Background

Metabolic syndrome (MetS) includes obesity, diabetes, dyslipidemia and hypertension. Its incidence is rapidly increasing worldwide, particularly in postmenopausal women. Estrogens regulate glucose homeostasis and lipid metabolism via estrogen receptors 1 (ESR1) and 2 (ESR2). The current study aimed to elucidate associations of MetS with ESR1 and ESR2 gene polymorphisms in postmenopausal Chinese women.

Methods

This case-control study included 304 postmenopausal women (154 and 150 control and MetS patients, respectively). Clinical indicators related to MetS were assessed. Two ESR1 (PvuII and XbaI) and two ESR2 (RsaI and AluI) polymorphisms were evaluated by polymerase chain reaction (PCR)-restriction fragment length polymorphism analysis.

Results

ESR1 polymorphisms were significantly different between MetS patients and healthy controls. G allele frequency for the XbaI polymorphism was significantly higher in patients than in control patients (p = 0.004, OR = 1.610, 95%CI 1.169–2.18). The haplotypes A–T (p = 0.015) and G–C (p = 0.024) showed significant differences. The minor alleles of the XbaI and PvuII gene polymorphisms in both homozygous and heterozygous forms showed associations with elevated waist circumference, fasting serum insulin and HOMA-IR. The minor G allele in homozygous and heterozygous forms of the RsaI and AluI gene polymorphisms showed associations with elevated total cholesterol and LDL-C.

Conclusions

In postmenopausal Chinese women, ESR1 polymorphism and the haplotypes A–T and G–C of XbaI–PvuII are associated with MetS, unlike ESR2 polymorphisms. Patients harboring the G allele of XbaI have elevated BMI, waist circumference, systolic and diastolic BP, FBG, HOMA-IR, total cholesterol, TG, LDL-C and NAFLD (%), and reduced HDL-C.
Zusatzmaterial
Additional file 1: Table S1. Linkage disequilibrium tests (D’ and r2). Table S2. Relationship between Xba1 genotypes and clinical indicators within each group. Table S3. Relationship between RsaI (B5) genotypes and clinical indicators in each group. Table S4. Relationship between AluI (B8) genotypes and clinical indicators of each group. Table S5. Relationship between PVUII genotypes and clinical indicators in each group. Figure S1. Genotype validation by direct sequencing for PvuII and XbaI. Figure S2. Genotype validation by direct sequencing for RsaI. Figure S3. Genotype validation by direct sequencing for AluI. (DOCX 430 kb)
12902_2018_289_MOESM1_ESM.docx
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