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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Study Report

Basic Info

Reference	Feng J, 200111317218
Citation	Feng J., Zheng J., Gelernter J., Kranzler H., Cook E., Goldman D., Jones I. R., Craddock N., Heston L. L., Delisi L., Peltonen L., Bennett W. P. and Sommer S. S. (2001) "An in-frame deletion in the alpha(2C) adrenergic receptor is common in African--Americans." Mol Psychiatry, 6(2): 168-72.
Study Design	case-control
Study Type	Mutational study
Sample Size	104 schizophrenics, and 41 patients with alcoholism, 25 cocaine abuse, 30 puerperal psychosis, 25 attention deficient/hyperactivity disorder, and 25 autism; 134 controls
Predominant Ethnicity	African-USA, Caucasian
Population	USA
Age Group	Adults

Detail Info

Summary	This report communicates the findings of the genetic scanning of this gene of very tough GC content. The complete coding sequences and splice junctions were scanned with [DOVAM]-S in 104 schizophrenics, and pilot probes of patients with alcoholism (41 patients), cocaine abuse (25 patients), puerperal psychosis (30 patients), attention deficient/hyperactivity disorder (25 patients) and autism (25 patients). Six sequence variants were found, including five silent polymorphisms (allele frequencies 0.6--25%) and an in-frame deletion of a homologous repeat at nucleotides 967--978 (ie, TIDRU(1)). Genotyping of the normal two repeat unit of the Third Intracytoplasmic Domain Repeat Unit (TIDRU(2)) and the deleted variant (TIDRU(1)) revealed that TIDRU(1) had allelic frequencies of 39% (11/28) and 3.5% (6/172) in African-USAn and Caucasian schizophrenics, respectively, and it occurred with equal frequency in controls (44%, 31/70 and 3.0%, 6/198). TIDRU(1) occurs at a location similar to the third intracytoplasmic 48-nucleotide repeat unit in the DRD4 that is associated with ADHD.
Total Sample	The sample included 104 schizophrenics, and patients with alcoholism (41 patients), cocaine abuse (25 patients), puerperal psychosis (30 patients), attention deficient/hyperactivity disorder (25 patients) and autism (25 patients). The control sample included 35 (26%) African- USAns and 99 (74%) Caucasians.
Sample Collection	patients with autism or ADHD were ascertained from the University of Chicago; control samples came from patients seen at the Mayo Clinic in Rochester, Minnesota
Diagnosis Description	Diagnostic and Statistical Manual, Third Edition, Revised (DSMIII-R)
Technique	PCR; DOVAM-S (ie, (Detection Of Virtually All Mutations)-SSCP); fluorescent dyes
Result Description	Six sequence variants were discovered, including five silent single nucleotide substitutions and one in-frame deletion. Sequence changes were found for all segments in which an unequivocal mobility shift occurred. C444T was found to occur in ADHD patients.

Other variant reported by this study (count: 1)

Genes reported by this study (count: 1)