title: Worldwide distribution of allelic variation at the progesterone receptor locus and the incidence of female reproductive cancers.
abstract: OBJECTIVE
  Global patterns of the incidence of cancer are often attributed to environmental and lifestyle differences between regions. Less attention has been given to global patterns of allelic variation of genes that may contribute to the risk of developing cancer.
  
  
  METHODS
  We genotyped samples from 21 populations for four variants of the progesterone receptor (PR) gene. One is an Alu insertion in intron 7 which defines the PROGINS haplotype. The others include a promoter region SNP 331+ G/A (rs10895068), a haplotype defining T/C substitution in intron 6 (rs561650), and an A/T substitution (rs608995) in the 3' untranslated region of the gene. All variants have been investigated elsewhere in association with female reproductive cancers in western populations.
  
  
  RESULTS
  We found population differences in the frequency of each of these alleles across study populations (P < 0.01, log-likelihood G statistic, computed in FSTAT) and therefore examined the correlation between the frequency of each genetic variant and the incidence of three female reproductive cancers (breast, uterine, and ovarian) obtained from the Globocan 2008 database. Breast and ovarian cancer incidence were significantly correlated with the frequency of the Alu insertion (r = 0.86 and 0.53) and the +331 A variant (r = 0.57 and 0.73).
  
  
  CONCLUSIONS
  Our data expand the information on genetic variation at the PR locus in non-western populations and support an argument for more work on the genetic epidemiology of cancer among nonwestern populations.
authors: Department of Anthropology, Temple University, Philadelphia, Pennsylvania 19122, USA. lrockwel@temple.edu
authors: L Christie
authors: LC
authors: Rockwell
authors: Elizabeth J
authors: EJ
authors: Rowe
authors: Katherine
authors: K
authors: Arnson
authors: Fatimah
authors: F
authors: Jackson
authors: Alain
authors: A
authors: Froment
authors: Peter
authors: P
authors: Ndumbe
authors: Binteou
authors: B
authors: Seck
authors: Robert
authors: R
authors: Jackson
authors: Joseph G
authors: JG
authors: Lorenz
mesh_terms: D000483:Alleles; D020087:Alu Elements; D019943:Amino Acid Substitution; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015994:Incidence; D007438:Introns; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011980:Receptors, Progesterone / Q000235:genetics*; D014594:Uterine Neoplasms / Q000453:epidemiology / Q000235:genetics*
chemical_list: D011980:Receptors, Progesterone