title: Identification of population substructure among Jews using STR markers and dependence on reference populations included.
abstract: BACKGROUND
  Detecting population substructure is a critical issue for association studies of health behaviors and other traits. Whether inherent in the population or an artifact of marker choice, determining aspects of a population's genetic history as potential sources of substructure can aid in design of future genetic studies. Jewish populations, among which association studies are often conducted, have a known history of migrations. As a necessary step in understanding population structure to conduct valid association studies of health behaviors among Israeli Jews, we investigated genetic signatures of this history and quantified substructure to facilitate future investigations of these phenotypes in this population.
  
  
  RESULTS
  Using 32 autosomal STR markers and the program STRUCTURE, we differentiated between Ashkenazi (AJ, N = 135) and non-Ashkenazi (NAJ, N = 226) Jewish populations in the form of Northern and Southern geographic genetic components (AJ north 73%, south 23%, NAJ north 33%, south 60%). The ability to detect substructure within these closely related populations using a small STR panel was contingent on including additional samples representing major continental populations in the analyses.
  
  
  CONCLUSIONS
  Although clustering programs such as STRUCTURE are designed to assign proportions of ancestry to individuals without reference population information, when Jewish samples were analyzed in the absence of proxy parental populations, substructure within Jews was not detected. Generally, for samples with a given grandparental country of birth, STRUCTURE assignment values to Northern, Southern, African and Asian clusters agreed with mitochondrial DNA and Y-chromosomal data from previous studies as well as historical records of migration and intermarriage.
authors.affiliation: Department of Psychiatry, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Jennifer B
authors.initials: JB
authors.lastname: Listman
authors.forename: Deborah
authors.initials: D
authors.lastname: Hasin
authors.forename: Henry R
authors.initials: HR
authors.lastname: Kranzler
authors.forename: Robert T
authors.initials: RT
authors.lastname: Malison
authors.forename: Apiwat
authors.initials: A
authors.lastname: Mutirangura
authors.forename: Atapol
authors.initials: A
authors.lastname: Sughondhabirom
authors.forename: Efrat
authors.initials: E
authors.lastname: Aharonovich
authors.forename: Baruch
authors.initials: B
authors.lastname: Spivak
authors.forename: Joel
authors.initials: J
authors.lastname: Gelernter
mesh_terms: D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D016000:Cluster Analysis; D004641:Emigration and Immigration; D014644:Genetic Variation; D005828:Genetics, Population; D006801:Humans; D007585:Jews / Q000235:genetics*; D018895:Microsatellite Repeats; D044382:Population Groups / Q000235:genetics