Dataset Information

Facial Sadness Recognition is Modulated by Estrogen Receptor Gene Polymorphisms in Healthy Females.

ABSTRACT: Polymorphisms of the estrogen receptor ESR1 and ESR2 genes have been linked with cognitive deficits and affective disorders. The effects of these genetic variants on emotional processing in females with low estrogen levels are not well known. The aim was to explore the impact of the ESR1 and ESR2 genes on the responses to the facial emotion recognition task in females. Postmenopausal healthy female volunteers were genotyped for the polymorphisms Xbal and PvuII of ESR1 and the polymorphism rs1256030 of ESR2. The effect of these polymorphisms on the response to the facial emotion recognition of the emotions happiness, sadness, disgust, anger, surprise, and fear was analyzed. Females carrying the P allele of the PvuII polymorphism or the X allele of the Xbal polymorphism of ESR1 easily recognized facial expressions of sadness that were more difficult for the women carrying the p allele or the x allele. They displayed higher accuracy, fast response time, more correct responses, and fewer omissions to complete the task, with a large effect size. Women carrying the ESR2 C allele of ESR2 showed a faster response time for recognizing facial expressions of anger. These findings link ESR1 and ESR2 polymorphisms in facial emotion recognition of negative emotions.

SUBMITTER: Gutierrez-Munoz M

PROVIDER: S-EPMC6315436 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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Facial Sadness Recognition is Modulated by Estrogen Receptor Gene Polymorphisms in Healthy Females.

Gutiérrez-Muñoz Mayra M Fajardo-Araujo Martha E ME González-Pérez Erika G EG Aguirre-Arzola Victor E VE Solís-Ortiz Silvia S

Brain sciences 20181207 12

Polymorphisms of the estrogen receptor ESR1 and ESR2 genes have been linked with cognitive deficits and affective disorders. The effects of these genetic variants on emotional processing in females with low estrogen levels are not well known. The aim was to explore the impact of the ESR1 and ESR2 genes on the responses to the facial emotion recognition task in females. Postmenopausal healthy female volunteers were genotyped for the polymorphisms Xbal and PvuII of E ...[more]

PMID: 30544539

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Project description:IntroductionXbaI single nucleotide polymorphism (SNP) (A/G rs934099) in estrogen receptor 1 gene (ESR1) was described to be associated with curve severity in Japanese idiopathic scoliosis (IS) patients and in Chinese patients with both curve severity and predisposition to IS. PvuII SNP (C/T rs2234693) of ESR1 was described to be associated with the occurrence of IS in the Chinese population; however, two replication studies did not confirm the findings. The ESR1 SNPs have never been studied in Caucasian IS patients.MethodsCase-control study. 287 females with IS underwent clinical, radiological and genetic examinations. The patients were divided into three groups according to curve progression velocity: non-progressive IS, slowly progressive IS (progression <1° per month), and rapidly progressive IS (progression ?1° per month). The radiological maximum Cobb angle was measured and surgery rate established. A control group consisted of 182 healthy females.ResultsAll results followed Hardy-Weinberg equilibrium. In the case-control study, genotype frequency in the patients did not differ for the XbaI (AA?=?33.5%, AG?=?49.1%, GG?=?17.4%), nor for the PvuII (TT?=?26.8%, TC?=?50.2%, CC?=?23.0%) comparing to controls (AA?=?33.5%, AG?=?50.5%, GG?=?15.9%) and (TT?=?23.1%, TC?=?51.1%, CC?=?25.8%), respectively, p?=?0.3685, p?=?0.6046. The haplotype frequency for the patients (AT?=?47.1%, GC?=?39.2%, AC?=?8.9%, GT?=?2.8%) did not differ from the controls (AT?=?44.8%, GC?=?37.4%, AC?=?14.0%, GT?=?3.8%), p?=?0.0645. No difference was found either in XbaI (p?=?0.8671) or PvuII (p?=?0.3601) allele distribution between the patients and the controls. In the case study, there was no significant difference in genotype frequency for the non-progressive, slowly progressive, and rapidly progressive scoliosis. No difference was found in genotype or haplotype distribution for the mean maximum Cobb angle or the surgery rate.ConclusionsNo association was found between ESR1 XbaI or ESR1 PvuII SNP and idiopathic scoliosis in Caucasian females. None of the previously reported associations could be confirmed, regarding curve severity, progression or operation rate.

Project description:Single nucleotide polymorphisms (SNPs) involved in the estrogen pathway and SNPs in the estrogen receptor alpha gene (ESR1 6q25) have been linked to breast cancer development, and mammographic density is an established breast cancer risk factor. Whether there is an association between daily estradiol levels, SNPs in ESR1 and premenopausal mammographic density phenotypes is unknown.We assessed estradiol in daily saliva samples throughout an entire menstrual cycle in 202 healthy premenopausal women in the Norwegian Energy Balance and Breast Cancer Aspects I study. DNA was genotyped using the Illumina Golden Gate platform. Mammograms were taken between days 7 and 12 of the menstrual cycle, and digitized mammographic density was assessed using a computer-assisted method (Madena). Multivariable regression models were used to study the association between SNPs in ESR1, premenopausal mammographic density phenotypes and daily cycling estradiol.We observed inverse linear associations between the minor alleles of eight measured SNPs (rs3020364, rs2474148, rs12154178, rs2347867, rs6927072, rs2982712, rs3020407, rs9322335) and percent mammographic density (p-values: 0.002-0.026), these associations were strongest in lean women (BMI, ?23.6 kg/m2.). The odds of above-median percent mammographic density (>28.5 %) among women with major homozygous genotypes were 3-6 times higher than those of women with minor homozygous genotypes in seven SNPs. Women with rs3020364 major homozygous genotype had an OR of 6.46 for above-median percent mammographic density (OR: 6.46; 95 % Confidence Interval 1.61, 25.94) when compared to women with the minor homozygous genotype. These associations were not observed in relation to absolute mammographic density. No associations between SNPs and daily cycling estradiol were observed. However, we suggest, based on results of borderline significance (p values: 0.025-0.079) that the level of 17?-estradiol for women with the minor genotype for rs3020364, rs24744148 and rs2982712 were lower throughout the cycle in women with low (<28.5 %) percent mammographic density and higher in women with high (>28.5 %) percent mammographic density, when compared to women with the major genotype.Our results support an association between eight selected SNPs in the ESR1 gene and percent mammographic density. The results need to be confirmed in larger studies.

Dataset Information

Facial Sadness Recognition is Modulated by Estrogen Receptor Gene Polymorphisms in Healthy Females.

Publications

Facial Sadness Recognition is Modulated by Estrogen Receptor Gene Polymorphisms in Healthy Females.

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