title: Association of E-cadherin single-nucleotide polymorphisms with the increased risk of breast cancer: a study in South Indian women.
abstract: BACKGROUND
  E-cadherin (CDH1) plays an important role in intercellular adhesion, cell signaling, and cellular differentiation. Association of single-nucleotide polymorphisms (SNPs) of CDH1 has been identified in a number of epithelial malignancies; however, studies related to breast cancer are very few.
  
  
  OBJECTIVE
  To investigate the association between CDH1 SNPs and breast cancer risk in south Indian women.
  
  
  METHODS
  Genotyping of CDH1 functional SNPs (-347G/GA, -160C/A, and +54C/T) was carried out on genomic DNA of blood from breast cancer patients (n=202) and controls (n=250) of south Indian origin by PCR-sequencing and PCR-restriction fragment length polymorphism techniques. Haplotype frequencies for multiple loci and the standardized disequilibrium coefficient (D') for pairwise linkage disequilibrium (LD) were assessed by Haploview Software.
  
  
  RESULTS
  The frequencies of -160A/A genotypes (p=0.038) and -160A alleles (p=0.046) were significantly higher in patients compared to controls. In addition, the frequency of the -347GA/-160A/+54C haplotype was also significantly elevated in patients (p=0.0238). Strong LD was observed between -347G/GA and +54C/T loci (D'=0.44) in patients compared to controls.
  
  
  CONCLUSIONS
  The CDH1 -160C/A polymorphism may constitute an inheritable risk factor for breast cancer in south Indian women.
authors.affiliation: Department of Genetics, Osmania University, Hyderabad, India.
authors.forename: Nageswara Rao
authors.initials: NR
authors.lastname: Tipirisetti
authors.forename: Suresh
authors.initials: S
authors.lastname: Govatati
authors.forename: Sowdamani
authors.initials: S
authors.lastname: Govatati
authors.forename: Lakshmi Rao
authors.initials: LR
authors.lastname: Kandukuri
authors.forename: Anuradha
authors.initials: A
authors.lastname: Cingeetham
authors.forename: Lalji
authors.initials: L
authors.lastname: Singh
authors.forename: Raghunadha Rao
authors.initials: RR
authors.lastname: Digumarti
authors.forename: Manjula
authors.initials: M
authors.lastname: Bhanoori
authors.forename: Vishnupriya
authors.initials: V
authors.lastname: Satti
mesh_terms: D015703:Antigens, CD; D044466:Asian People; D001943:Breast Neoplasms / Q000208:ethnology / Q000235:genetics*; D015820:Cadherins / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007194:India; D015810:Linkage Disequilibrium; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: D015703:Antigens, CD; C513384:CDH1 protein, human; D015820:Cadherins