ASSOCIATION OF NOVEL POLYMORPHISM OF ESR2 GENE (G40100A) WITH PRODUCTION TRAITS OF BROWN LOCAL IRAQI CHICKEN

The estrogen receptor 2 (ESR2) plays a crucial role in the growth and development of follicles and ovulation in chickens. The aim of this study was detect the association of estrogen receptor 2(ESR2) gene polymorphisms with the production performance of brown local Iraqi chicken. A total of 104 hens from the F4th generation of local chicken selected for high egg yield were used. The novel SNP(G40100A) transition within third prime untranslated region (3 prime UTR) of ESR2 gene. Three genotypes were found: Wild(GG), Heterozygous(GA), and Homozygous(AA) through (PCR-DAN sequencing). Chi-square analysis showed no significant in genotypic and allelic frequencies for SNP which were agreement with Hardy-Weinberg equilibrium. The genotypes GG and GA were significantly superior with age at sexual maturity compared to AA genotype. The genotype GA was significantly associated with hen day egg production (HDEP) at 30 weeks compared to genotype AA, as well as the genotype GA highest significant variance was reported comparing with the GG genotype in HDEP at 45 and 60 weeks, thus, the study recommends to exploit this ESR2 gene polymorphism (G40100A) as promising marker in breeding program via, the selection of individuals carrying the genotype GA, characterized by the high egg production.

Polymorphism Analysis and Expression Profile of the Estrogen Receptor 2 Gene in Leizhou Black Duck

BackgroundOur previous study on the ovarian transcriptomic analysis in Leizhou black duck revealed that the ESR2 gene was involved in hormone regulation in reproduction and the estrogen signaling pathway related to reproductive performance was enriched. This suggested that ESR2 may have a functional role in the reproductive performance of the Leizhou black duck. Thus, this study aimed at evaluating the polymorphism of the ESR2 gene and its association with egg-laying traits and the distribution pattern of ESR2 mRNA in laying and non-laying Leizhou black ducks. MethodIn this study, genomic DNA was extracted from blood samples of 101 Leizhou black ducks to identify single nucleotide polymorphisms (SNPs) of the ESR2 gene to elucidate molecular markers highly associated with egg-laying traits. Four (4) each of laying and non-laying Leizhou black ducks were selected to collect different tissues to analyze the ESR2 gene expression. ResultsA total of 23 SNPs were identified and association analysis of the single SNP sites showed that SNPs g.56805646 T>C and exon 3-20G>A were significantly (P < 0.05) associated with egg weight. Ducks with CT and AG genotypes had significantly higher (P < 0.05) egg weights than their respective other genotypes. Haplotype association analysis of g.56805646 T>C and exon 320G>A showed that the haplotypes were significantly associated with egg weight where higher egg weight was seen in individuals with H3H4 haplotypes. In the hypothalamus-pituitary-gonadal (HPG) axis, the results of qRT/PCR showed that ESR2 mRNA was significantly (P < 0.05) expressed in the ovaries of both duck groups than in the hypothalamus and pituitary. In the oviduct, ESR2 was significantly (P < 0.05) higher in the infundibulum and magnum of laying and nonlaying ducks respectively. ConclusionThis study provides molecular marker for selecting Leizhou black ducks for egg production and provides theoretical knowledge for the study of the related biological functions of the ESR2 gene at the cellular level.

Association Study of rs2987983 Polymorphism in the Promoter Region of ESR2 Gene and Susceptibility to Nodular Thyroid in Women of Markazi Province, Iran

Background: The risk of thyroid disease has been increased during recent years; more than 200 million people are suffering from various types of thyroid diseases. The rate of thyroid nodules in women is 4 times more than that of men. Epidemiological findings and experimental evidence of thyroid lesions suggest that sex hormones, especially estrogen, may affect this gland and its neoplasms. Objectives: Considering the prevalence of benign and malignant thyroid disease in women, we investigated the association between rs2987983 polymorphism in the estrogen receptor beta gene and nodular thyroid disease. Methods: In this case-control study, 146 patients with thyroid nodules from Amir- Almomenin Hospital in Arak were compared with 151 healthy individuals. The diagnosis was performed by ultrasonography and confirmed by an endocrinologist. After DNA extraction, genotyping was performed with T-ARMS PCR. Finally, statistical analysis was carried out. Results: The frequencies of AA, AG, and GG genotypes in the case group were 48 (32.9%), 83 (56.8%), and 15 (10.3%), respectively. These values in the control group were 64 (42.4%), 64 (42.4%), and 23 (15.2%), respectively. Overall, a statistically significant association (P = 0.042, χ2 = 6.3, df = 2) was observed between rs2987983 polymorphism and thyroid nodules. Conclusions: Considering the significant association between rs2987983 polymorphism and thyroid nodules, it can be suggested that the mentioned polymorphism may be used as a diagnostic biomarker. Because this polymorphism is in the promoter region of the gene, it probably alters gene expression levels.

Study of RsaI polymorphism of the ERβ gene in Greek women with endometriosis

Estrogens and estrogen receptors (ERs) play an important role in the pathogenesis of endometriosis. The aim of this study was to investigate the presence of gene polymorphism RsaI in the gene of the estrogen receptor ERβ in the Greek female population, and its distribution in women suffering from endometriosis and in a control group. We included 67 consecutive infertile women of Caucasian origin who were operated laparoscopically in our Gynecological Endoscopy Unit for endometriosis, and 96 women participated as control group. Patients were genotyped for RsaI (G/A, rs1256049) polymorphism in ESR2 exon 5, using real-time PCR. The patients’ genotype distribution did not differ from the control group. There were no women homozygous for the polymorphic allele in neither group. The different genotypes of ESR2 could not be associated with the stage of endometriosis. The data of this study point that in Greek population who had proven endometriosis the determination of RsaI polymorphism of ESR2 gene doesn’t offer any information for the progression of endometriosis, regarding the genetic profile of this particular gene.

SUN-738 Establishing the Link Between Genetic Variations of Estrogen Receptor 2 and Unexplained Infertility

Background: Unexplained or idiopathic infertility comprises approximately 30% of couples who present with infertility. This has led to investigations seeking to determine the cause(s) of this important diagnosis of exclusion. Estrogen’s role in reproduction has been well- established. Estrogens bind to two hormone receptors (namely estrogen receptor-alpha and estrogen receptor-beta), which are distributed differentially throughout the body. Specifically, the estrogen receptor-beta, coded by the Estrogen Receptor 2 (ESR2) gene, is highly expressed in granulosa cells and growing follicles. The one female patient reported with an ESR2 mutation presented with hypergonadotropic hypogonadism. However, subfertility with inefficient ovulation and resistance to exogenous ovulatory stimulation is seen in an ESR2 knockout mouse model. We therefore hypothesized that less severe ESR2 variants could lead to a normal female phenotype and pubertal development but could be a cause subfertility. Methods: DNA samples from 200 women with unexplained infertility were obtained from the Assessment of Multiple Intrauterine Gestations from Ovarian Stimulation (AMIGOS) clinical trial, which investigated optimal ovulation induction medications for unexplained infertility. These samples were subjected to targeted next-generation sequencing (NGS) for the ESR2 gene. Likely pathogenic variants that occurred with a minor allele frequency of &lt; 0.01 in the gnomAD database and a Combined Annotation Dependent Depletion (CADD) score of &gt; 20 were selected for confirmation by Sanger sequencing. Results: From the 200 patient samples, five heterozygous missense variants and one heterozygous in-frame deletion identified by targeted NGS were confirmed by Sanger sequencing. Further studies will need to be performed in vitro to confirm the likely pathogenicity of these variants. Conclusion: These studies raise the possibility that If these variants in ESR2 that impair estrogen signaling, they could be a potential newly recognized etiology of unexplained infertility in women with unexplained infertility. Conclusion: These studies raise the possibility that variants in ESR2 that impair estrogen signaling could be a potential newly recognized etiology of unexplained infertility in women.

The association of codon 392 polymorphism in ESR2 gene with breast cancer in Iran

Epidemiological studies revealed that the pattern of age onset of breast cancer in the Middle East region differ from those in Caucasians. Therefore, genomic data for ESR2 (ER-β) is of the value in the clinical setting for that ethnic group and the aim of the current investigation is investigated whether polymorphisms in the ER-β gene are associated with breast cancer risk among Iranian women. The coding sequence in Exon 7 at ESR2 gene was looking for any variation among the Iranian breast cancer women by SSCP-PCR method. In codon 392 of exon 7, showed a silent SNP (silent single nucleotide polymorphism). The frequency of allele G in codon 392 (CTC → CTG was found only in cases (5.7%). We also found that allele G in codon 392 (C1176G) had direct association with development of lymph node metastasis in breast cancer. The current results suggest that ESR2 SNP in exon 7, codon 392 is associated with various aspects of breast cancer in Iran. ESR2 gene structure determination, in presurgical evaluation, might be a useful marker in predicting familial breast cancer and metastasis in LN.