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Planning genetic studies on primary adult-onset dystonia: sample size estimates based on examination of first-degree relatives.

Abstract：

:Primary adult-onset dystonia is thought to be partly genetic, but families large enough for a genome wide search are difficult to find. We examined the first-degree relatives of 76 primary adult-onset dystonia patients to assess the feasibility of model-free nonparametric methods that allow either screening of candidate loci (case-control design, transmission disequilibrium test [TDT], and sibling-TDT [S-TDT]) or identification of novel genes (affected sib-pair [ASP] method). Among the examined relatives, 1/34 parents, 13/149 siblings and 10/125 offspring were affected by adult-onset dystonia. The predicted sample sizes to detect a gene conferring an Odds ratio of 3.0 were 99 for case-control and TDT methodology, 148 for S-TDT, and 107 to 173 for an ASP study assuming three major loci. Based on our family structure, TDT, S-TDT, and ASP methods would required screening of about 220, 700, and 580 to 939 probands respectively. Analysing subpopulations with different types of dystonia, TDT required fewer probands with cervical/hand dystonia, S-TDT needed fewer probands with cranial dystonia. These sample size estimates suggest that the S-TDT may be feasible, whereas collection of cases for both TDT and ASP approaches would represent a major collaborative challenge.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Defazio G,Martino D,Aniello MS,Masi G,Gigante A,Bhatia K,Livrea P,Berardelli A

doi

10.1016/j.jns.2006.08.009

subject

Has Abstract

pub_date

2006-12-21 00:00:00

pages

29-34

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(06)00371-6

journal_volume

251

pub_type

杂志文章

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