Journal
MOVEMENT DISORDERS
Volume 26, Issue 3, Pages 549-552Publisher
WILEY
DOI: 10.1002/mds.23551
Keywords
dystonia; DYT6; high-resolution melting; untranslated region; THAP1
Categories
Funding
- NCATS NIH HHS [U54 TR001456] Funding Source: Medline
- NCRR NIH HHS [UL1 RR024992, RR024992] Funding Source: Medline
- NIA NIH HHS [P50 AG025688, AG025688, R01 AG015866, R01AG015866, P01 AG017216, P01AG017216] Funding Source: Medline
- NIEHS NIH HHS [K24 ES017765] Funding Source: Medline
- NINDS NIH HHS [R01NS048458, NS055077, 1U54NS065701, R01 NS057567, R01 NS057567-01A2, R01 NS069936-01A1, P50 NS040256, U54 NS065701, R01 NS069936, P50-NS40256, P30 NS055077, P30NS05710, R01 NS048458, R01NS069936] Funding Source: Medline
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Background: Sequence variants in coding and non-coding regions of THAP1 have been associated with primary dystonia. Methods: In this study, 1,446 Caucasian subjects with mainly adult-onset primary dystonia and 1,520 controls were genotyped for a variant located in the 5'-untranslated region of THAP1 (c.-237_236GA>TT). Results: Minor allele frequencies were 62/2892 (2.14%) and 55/3040 (1.81%) in subjects with dystonia and controls, respectively (P=0.202). Subgroup analyses by gender and anatomical distribution also failed to attain statistical significance. In addition, there was no effect of the TT variant on expression levels of THAP1 transcript or protein. Discussion: Our findings indicate that the c.-237_236GA>TT THAP1 sequence variant does not increase risk for adult-onset primary dystonia in Caucasians. VC 2011 Movement Disorder Society
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