Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremor

Clin Genet. 2004 Oct;66(4):353-7. doi: 10.1111/j.1399-0004.2004.00306.x.

Abstract

An ancestral haplotype on chromosome 2p24.1 described in an American sample with familial essential tremor (ET) was analyzed in a different ethnic sample from Singapore. Six polymorphic loci (etm1240, etm1231, etm1234, APOB, etm1241, and etm1242) in a 274-kb interval within an ET gene candidate region (ETM2) were analyzed in Singaporean individuals with a family history of ET (n = 52) and compared to Singaporean controls older than age 65 (n = 49). The allele frequencies were significantly different between cases and controls for the loci etm1234 (p = 0.0001) and APOB (p = 0.0320). An extended haplotype formed by the loci etm1231, etm1234, and APOB occurred with a frequency of 31% in Singaporean cases and in 1.8% of elderly Singaporean controls (p = 0.0005). Haplotype studies in two different population samples suggest that a disease locus for ET lies near or within the 100-kb interval between the loci etm1231 and APOB.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Apolipoproteins B / genetics*
  • Case-Control Studies
  • Chromosomes, Human, Pair 2
  • Essential Tremor / diagnosis
  • Essential Tremor / epidemiology
  • Essential Tremor / genetics*
  • Female
  • Gene Frequency
  • Genetic Variation
  • Genotype
  • Haplotypes / genetics*
  • Humans
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Singapore / epidemiology

Substances

  • Apolipoproteins B