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

JJ Higgins, RQ Lombardi, EK Tan, J Jankovic… - Clinical …, 2004 - Wiley Online Library
JJ Higgins, RQ Lombardi, EK Tan, J Jankovic, J Pucilowska, JP Rooney
Clinical genetics, 2004Wiley Online Library
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 …
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.
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