Haplotype-Based Case-Control Study of Estrogen Receptor α (ESR1) Gene and Pregnancy-Induced Hypertension

Tamura, Masaaki; Nakayama, Tomohiro; Sato, Ichiro; Sato, Naoyuki; Izawa, Noriko; Hishiki, Mikano; Mizutani, Yoshihiro; Furuya, Kiyohide; Yamamoto, Tatsuo

doi:10.1291/hypres.31.221

Cited by 11 publications

(4 citation statements)

References 35 publications

(13 reference statements)

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“…19 Estrogen binding to ESR1 has been shown to cause rapid vasodilation of blood vessels through the activation of endothelial nitric oxide synthase and also has long-term effects on gene expression in vascular cells. [25][26][27] ESR1 variants have already been linked to SBP, DBP, hypertension, hypertensive pregnancy, left ventricular hypertrophy, and cardiovascular diseases, [28][29][30][31][32][33][34][35][36][37] with marker rs2234693 (widely known as the PvuII variant) by far the most commonly associated SNP in the ESR1 gene. [29][30][31]33,34,36,37 We examined rs2234693 for its association with salt-sensitivity phenotypes in the current study, observing minimum raw P values of 0.04 and 0.07 for its association with DBP responses to low-and high-sodium interventions, respectively.…”

Section: Discussionmentioning

confidence: 99%

Analysis of Sex Hormone Genes Reveals Gender Differences in the Genetic Etiology of Blood Pressure Salt Sensitivity: The GenSalt Study

Kelly

Rebholz

Gu³

et al. 2012

American Journal of Hypertension

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Section: Discussionmentioning

confidence: 99%

Analysis of Sex Hormone Genes Reveals Gender Differences in the Genetic Etiology of Blood Pressure Salt Sensitivity: The GenSalt Study

Kelly

Rebholz

Gu³

et al. 2012

American Journal of Hypertension

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“…The PvuII (rs2234693) polymorphism may affect the binding of the transcription factor, resulting in the alteration of protein expression. 9 PvuII (rs2234693) and XbaI (rs9340799) of ESR1 were reported to be associated with lipid profile, [10][11][12][13] Alzheimer's disease, 14 artery wall atherosclerosis, 15 atherosclerotic severity to hormone replacement therapy (HRT) 16 and pathogenesis of hypertension, 17,18 stroke, 19 CVDs 20-23 and type II diabetes. 24,25 1082A4G (rs1256049) and 1730A4G (rs4986938) of ESR2 might have a role in CVDs 26,27 and lipid profile.…”

Section: Introductionmentioning

confidence: 99%

Association between ESR1 and ESR2 gene polymorphisms and hyperlipidemia in Chinese Han postmenopausal women

et al. 2009

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Estrogen was considered to be an important protective factor for cardiovascular diseases in women. Genetic association studies suggested that variations of ESR1 and ESR2 genes might have a potential role in lipid profile. Our study aimed to investigate the association of single-nucleotide polymorphisms (SNPs) of ESR1 and ESR2 with hyperlipidemia in Chinese Han postmenopausal women. A total of 443 postmenopausal women aged between 55 and 71 years were recruited from Shanghai, China for a casecontrol study (154 women with hyperlipidemia and 289 controls). We measured plasma estradiol concentration, glucose and lipid profile levels, evaluated their lifestyle and sequenced four SNPs, namely PvuII (rs2234693) and XbaI (rs9340799) of ESR1 and 1082A4G (rs1256049) and 1730A4G (rs4986938) of ESR2. PvuII (rs2234693) and XbaI (rs9340799) showed significantly different distributions between cases and controls (P¼0.002 and P¼0.023, respectively). In addition, haplotypes constructed from PvuII-XbaI were also associated with hyperlipidemia (global P¼0.012). Haplotypes T-A (P¼0.005, odds ratio (OR) 1.52, 95% confidence interval (95% CI): 1.13-2.05) and C-G (P¼0.010, OR 0.62, 95% CI: 0.43-0.89) had susceptible and protective effects, respectively. 1082A4G (rs1256049) and 1730A4G (rs4986938) showed no statistical association with hyperlipidemia. In conclusion, our results suggested that ESR1 might have a potential role in hyperlipidemia risk, independent of age, estradiol level, body mass index and lifestyle in Chinese Han postmenopausal women.

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“…Haplotypes observed at frequencies of less than 0.01 were excluded. Differences with P values of <0.05 were considered significant (Tamura et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

Research Article Haplotype-based case-control study of calpain (CAPN2) gene and hypertensive disorders of pregnancy

Nakayama¹,

Sato²,

Shikata³

et al. 2021

Genet. Mol. Res.

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T. Nakayama et al. 2 to be a significant factor. No significant differences were seen in any of the other SNVs analyzed. However, association analyses involving the rs1892077-rs98041140-rs17599-rs1153954 haplotype in the CAPN2 gene haplotypes revealed that G-A-A-T was found at a significantly lower frequency, and G-A-C-T and G-G-A-A at significantly greater frequencies, in patients with PIH. These findings may be useful in preventing PIH onset, as well as for the early discovery and treatment of patients who are carriers of the haplotype likely to be associated with this condition.

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Haplotype-Based Case-Control Study of Estrogen Receptor α (ESR1) Gene and Pregnancy-Induced Hypertension

Cited by 11 publications

References 35 publications

Analysis of Sex Hormone Genes Reveals Gender Differences in the Genetic Etiology of Blood Pressure Salt Sensitivity: The GenSalt Study

Analysis of Sex Hormone Genes Reveals Gender Differences in the Genetic Etiology of Blood Pressure Salt Sensitivity: The GenSalt Study

Association between ESR1 and ESR2 gene polymorphisms and hyperlipidemia in Chinese Han postmenopausal women

Research Article Haplotype-based case-control study of calpain (CAPN2) gene and hypertensive disorders of pregnancy

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