title: ESR1 single nucleotide polymorphism rs1062577 (c.*3804T>A) alters the susceptibility of breast cancer risk in Iranian population.
abstract: OBJECTIVE
  Albeit single nucleotide polymorphisms related to ESR1 gene have been studied, only a number of them have been reported to be associated with breast cancer risk. rs1062577 is one of the most recent microRNA-related ESR1 SNPs; however, no study has been conducted to investigate the significance this polymorphism in Iranian population. In this study, we aimed to investigate the frequency and also the association between rs1062577 and breast cancer.
  
  
  METHODS
  rs1062577 position was genotyped by Tetra-primer ARMS-PCR in totally 182 blood specimens obtained from breast cancer patients (n=86), and healthy blood donors (n=96). The distribution of different genotypes was statistically analyzed in terms of the potential association between rs1062577 different alleles, breast cancer risk and clinicopathological criteria of breast cancer patients.
  
  
  RESULTS
  The statistical analyses confidently indicated that rs1062577 A allele is associated with the increased breast cancer risk in both univariate and multivariate regression models (Odds Ratio=8.403 and 32.602 respectively). rs1062577 T allele was statistically associated with stage I of breast cancer patients (p-value=0.025). In silico studies implied that rs1062577 A allele can alter the binding capacity of ESR1 mRNA and miRNAs via either breakage or formation of hydrogen bonds.
  
  
  CONCLUSIONS
  rs1062577 A allele is significantly and dramatically associated with the elevated risk and greater stages of breast cancer.
authors.affiliation: Department of Biochemistry, Payame Noor University of Isfahan, Isfahan, Iran.
authors.forename: Zahra
authors.initials: Z
authors.lastname: Dehghan
authors.affiliation: Division of Genetics, Department of Biology, Faculty of Sciences, University of Isfahan, Isfahan, Iran.
authors.forename: Samira
authors.initials: S
authors.lastname: Sadeghi
authors.affiliation: Division of Genetics, Department of Biology, Faculty of Sciences, University of Isfahan, Isfahan, Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Tabatabaeian
authors.affiliation: Division of Cellular and Molecular Biology, Department of Biology, Faculty of Sciences, University of Isfahan, Isfahan, Iran; Department of Cellular Biotechnology, Cell Science Research Center, Royan Institute for Biotechnology, ACECR, Isfahan, Iran. Electronic address: Kamranghaedi@sci.ui.ac.ir.
authors.forename: Kamran
authors.initials: K
authors.lastname: Ghaedi
authors.affiliation: Zist-Fanavari Novin Biotechnology Institute, Isfahan, Iran.
authors.forename: Mansoureh
authors.initials: M
authors.lastname: Azadeh
authors.affiliation: Department of Biochemistry, Payame Noor University of Isfahan, Isfahan, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Fazilati
authors.affiliation: Biochemistry Division, Department of Biology, Faculty of Science, Payame Noor University of Taft, Yazd, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Bagheri
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D000328:Adult; D000483:Alleles; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007492:Iran; D016015:Logistic Models; D035683:MicroRNAs / Q000235:genetics; D008875:Middle Aged; D015999:Multivariate Analysis; D020641:Polymorphism, Single Nucleotide; D012333:RNA, Messenger / Q000235:genetics; D012307:Risk Factors; D012689:Sequence Homology, Nucleic Acid; D055815:Young Adult
chemical_list: D020413:3' Untranslated Regions; D047628:Estrogen Receptor alpha; D035683:MicroRNAs; D012333:RNA, Messenger
keywords: Breast cancer; ESR1; Tetra-primer ARMS-PCR; miR-186; miR-3636; miR-3662; microRNA-related SNP; rs1062577