Variation in the ESR1 and ESR2 genes and genetic susceptibility to anorexia nervosa

Eastwood, Helen; Brown, K. J.; Markovic, Daniela; Pieri, L.

doi:10.1038/sj.mp.4000929

Cited by 68 publications

(31 citation statements)

References 18 publications

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“…The initial study has screened for mutation in ESR2 gene (Rosenkranz et al, 1998) and found different distribution of the variant G1082A (rs1256049) in AN compared with BN or to obese-underweight subjects. In the second study, no association was reported between AN and three markers, or haplotypes, of ESR1 gene, but a significant association was reported with the rs1256049 SNP of ESR2 (Eastwood et al, 2002). Furthermore, an association was also reported with rs4986938 and rs928554 (but not with rs1256049) in bulimia nervosa and eating disorders not otherwise specified (Nilsson et al, 2004).…”

Section: Discussionmentioning

confidence: 78%

“…Finally, the involvement of the estrogen alpha receptor in the regulation of food intake and eating behavior was confirmed in mouse models (Musatov et al, 2006(Musatov et al, , 2007. Two case-control studies of AN with ESR1 and ESR2 genes were previously published (Eastwood et al, 2002;Rosenkranz et al, 1998). They reported no association of the ESR1 gene with AN, and an inconsistent association of AN with different variants within ESR2 gene.…”

Section: Introductionmentioning

confidence: 81%

“…Furthermore, we did not identified ESR1-ESR2 gene-gene interaction with either AN or restrictive subtype. Only two works of AN with ESR1 and ESR2 genes were previously published (Rosenkranz et al, 1998;Eastwood et al, 2002). The initial study has screened for mutation in ESR2 gene (Rosenkranz et al, 1998) and found different distribution of the variant G1082A (rs1256049) in AN compared with BN or to obese-underweight subjects.…”

Section: Discussionmentioning

confidence: 99%

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Estrogen Receptor 1 Gene (ESR1) is Associated with Restrictive Anorexia Nervosa

Versini

Ramoz

Strat

et al. 2010

Neuropsychopharmacol

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Anorexia nervosa (AN) is a highly heritable young-onset psychiatric illness the etiology of which remains unknown. Estrogen alpha and beta receptors, encoded by ESR1 and ESR2 genes, are involved in food intake regulation and eating behavior, and may have a potential role in AN. We performed a family-based association study of 17 single-nucleotide polymorphisms (SNPs) encompassing ESR1 and ESR2 genes in a cohort of 321 French AN families. We attempted to replicate this finding in a cohort of 41 restrictive AN (RAN) families and in a population-based study of 693 young women. Using the transmission disequilibrium test, a significant over-transmission was detected between AN and ESR1 rs726281 and rs2295193. These SNPs and another among ESR1 were more specifically associated with the RAN subtype (rs726281, p=0.005, odds ratio (OR)=2.1, 95% confidence interval (95% CI)=1.2-3.6; rs3798577, p=0.021, OR=1.6, 95% CI=1.1-2.3; and rs2295193, p=0.007, OR=1.7, 95% CI=1.2-2.5). A large eight-SNPs haplotype of ESR1 gene was also associated with AN (p<0.0001, OR=3.1, 95% CI=1.8-5.1). Association of ESR1 SNPs and RAN was driven by paternal over-transmissions (p<0.0001, OR=3.7, 95% CI=1.9-7.3). Furthermore, we confirmed the preferential paternal over-transmission of the ESR1 rs726281 on the independent German sample of 41 RAN trios (p=0.025, OR=3, 95% CI=1.1-8.3). Finally, rs3798577 was associated with eating disorders in a population-based sample of 693 women (p<0.01). Our findings are strongly in favor of an association between ESR1 polymorphisms and AN. In particular, ESR1 gene confers a high risk of vulnerability to the restrictive subtype of AN, and suggests that the estrogen pathway has to be further analyzed in AN.

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Section: Discussionmentioning

confidence: 78%

Section: Introductionmentioning

confidence: 81%

Section: Discussionmentioning

confidence: 99%

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Estrogen Receptor 1 Gene (ESR1) is Associated with Restrictive Anorexia Nervosa

Versini

Ramoz

Strat

et al. 2010

Neuropsychopharmacol

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“…Given the potential role of ER-beta variations in breast carcinogenesis, it is reasonable to speculate that polymorphic sites in the ESR2 gene might be associated with risk of breast cancer. The ESR2 genetic variants have been investigated for their associations with body weight [7], menstrual disorders [8], anorexia nervosa [9], Alzheimer's disease [10], and prostate cancer [11]. With regard to breast cancer, a number of association studies have been carried out, though the results are inconsistent.…”

Section: Introductionmentioning

confidence: 99%

A systematic review of the relationship between polymorphic sites in the estrogen receptor-beta (ESR2) gene and breast cancer risk

Rao

Chen

et al. 2010

Breast Cancer Res Treat

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The estrogen signal is mediated by the estrogen receptor (ER). The specific role of ER-beta, a second ER, in breast carcinogenesis is not known. A number of association studies have been carried out to investigate the relationship between polymorphic sites in the ESR2 gene and breast cancer risk, however, the results are inconsistent. We searched PubMed, Medline, and Web of Science database (updated to 10 January 2010) and identified 13 relevant case-control studies, and approximately 28 single-nucleotide polymorphisms (SNPs) and one micro-satellite marker were reported in the literature. The median number of study subjects was 776 (range 158-13,550). Three genetic variants [(CA)n, rs2987983, and rs4986938] showed significant overall associations with breast cancer, and rs4986938 was reported twice. Because rs4986938 and rs1256049 were the most extensively studied polymorphisms, we subsequently conducted a meta-analysis to evaluate their relationship with breast cancer risk (9 studies of 10,837 cases and 16,021 controls for rs4986938; 8 studies of 11,652 cases and 15,726 controls for rs1256049). For rs4986938, the women harboring variant allele seemed to be associated with a decreased risk either in the dominant model [pooled OR = 0.944, 95% confidence interval (95% CI) 0.897-0.993, fixed-effects] or in the co-dominant model (AG vs. GG) (OR = 0.944, 95% CI 0.895-0.997, fixed-effects). rs1256049 was not associated with breast cancer risk in any model. Five studies had investigated the effect of haplotypes in the ESR2 gene on breast cancer risk, and four of them had positive outcomes. In summary, the present systematic review suggests that SNP rs4986938 as well as haplotypes in the ESR2 gene might be associated with breast cancer. The need for additional studies examining these issues seems of vital importance.

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“…Previous studies showed that the common ESR2 gene polymorphisms (e.g., rs1256049, rs4986938, and rs928554) were associated with anorexia nervosa, bone mineral density, ovulatory dysfunction, and, most recently, breast cancer (Sundarrajan et al, 2001;Arko et al, 2002;Eastwood et al, 2002;Zheng et al, 2003), but to date, no study has assessed the relationship between ESR2 gene polymorphisms and uterine leiomyoma. Therefore, we hypothesized that variations in the ESR2 gene may potentially cause alterations in its biological function and influence uterine leiomyoma risk.…”

Section: Introductionmentioning

confidence: 96%

No Association Between Estrogen Receptor Beta Polymorphisms and Uterine Leiomyoma

Zhai¹,

Yang

et al. 2009

DNA and Cell Biology

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Numerous candidate genes have been proposed as susceptibility factors for the development of uterine leiomyoma. Interaction of estrogen receptor alpha (ESR1) and estrogen receptor beta (ESR2) plays a pivotal role in tunica muscularis uteri cell proliferation, differentiation, and tumorigenesis of myometrium. To our knowledge, no study has examined the relationship between the ESR2 and uterine leiomyoma. The aim of the study was to evaluate the association of ESR2 polymorphisms with uterine leiomyoma in Chinese women. We investigated two common ESR2 polymorphisms, rs1256049 (G1082A) and rs928554 (Cx + 56 A --> G), to find their association with uterine leiomyoma risk by polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing method. A total of 150 Chinese women with clinically diagnosed uterine leiomyoma and 150 healthy, normal Chinese women were included in the study. The results suggest that there were no significant differences in the genotype and allele frequencies of ESR2 polymorphisms between uterine leiomyoma patients and controls in Chinese women (p > 0.05). Further studies are still needed to explore the complicated interaction between environmental factors and ESR2 polymorphisms in the risk of uterine leiomyoma, particularly in ethnically different populations.

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Variation in the ESR1 and ESR2 genes and genetic susceptibility to anorexia nervosa

Cited by 68 publications

References 18 publications

Estrogen Receptor 1 Gene (ESR1) is Associated with Restrictive Anorexia Nervosa

Estrogen Receptor 1 Gene (ESR1) is Associated with Restrictive Anorexia Nervosa

A systematic review of the relationship between polymorphic sites in the estrogen receptor-beta (ESR2) gene and breast cancer risk

No Association Between Estrogen Receptor Beta Polymorphisms and Uterine Leiomyoma

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