title: Revised transthyretin Ile 122 allele frequency in African-Americans.
abstract: The transthyretin (TTR) Ile 122 variant is associated with cardiac amyloidosis in individuals of African descent. To determine the prevalence of the allele encoding TTR Ile 122 in African-Americans, we have used PCR and restriction analysis to test DNA from African-Americans from various geographic areas, and found an allele frequency of 66/3376 (0.020), which is higher than the value we previously reported in a much smaller pilot study. Our data indicate that this TTR variant is present at equal frequency in African-Americans throughout the U.S., and suggest that this mutation may be a common, often unrecognized cause of cardiac disease in African-Americans.
authors.affiliation: Department of Medicine, New York University School of Medicine and Research Service, New York Veterans Administration Medical Center 10010, USA.
authors.forename: D R
authors.initials: DR
authors.lastname: Jacobson
authors.forename: R
authors.initials: R
authors.lastname: Pastore
authors.forename: S
authors.initials: S
authors.lastname: Pool
authors.forename: S
authors.initials: S
authors.lastname: Malendowicz
authors.forename: I
authors.initials: I
authors.lastname: Kane
authors.forename: A
authors.initials: A
authors.lastname: Shivji
authors.forename: S H
authors.initials: SH
authors.lastname: Embury
authors.forename: S K
authors.initials: SK
authors.lastname: Ballas
authors.forename: J N
authors.initials: JN
authors.lastname: Buxbaum
mesh_terms: D000483:Alleles; D000686:Amyloidosis / Q000235:genetics; D044383:Black People / Q000235:genetics*; D009202:Cardiomyopathies / Q000235:genetics; D005787:Gene Frequency; D014644:Genetic Variation; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D017354:Point Mutation; D011228:Prealbumin / Q000235:genetics*; D014481:United States / Q000453:epidemiology; D001741:Black or African American
chemical_list: D011228:Prealbumin; D007532:Isoleucine