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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	Kent L, 2001(b)11409698
Citation	Kent L., Middle F., Hawi Z., Fitzgerald M., Gill M., Feehan C. and Craddock N. (2001) "Nicotinic acetylcholine receptor alpha4 subunit gene polymorphism and attention deficit hyperactivity disorder." Psychiatr Genet, 11(1): 37-40.
Study Design	family-based
Study Type	Candidate-gene association study
Sample Size	70 trios
Predominant Ethnicity	Caucasian
Population	United Kingdom, Ireland
Gender	61 (87%) male, 9 (13%) female
Age Group	Children/Adolescents : 5-16 years (mean age=11.1 years, SD=3.0.)

Detail Info

Summary	The current study examined the alpha 4 receptor, one of the sites of action of ABT-418. A known Cfol polymorphism within the nicotinic acetylcholine alpha 4 receptor gene, CHRNA4, was studied in 70 ADHD parent-proband trios from an ongoing sample collection of children aged 6-12 with ADHD, according to DSM-IV criteria. Children with known major medical or psychiatric conditions or mental retardation (IQ < 70) were excluded from the study. The Transmission Disequilibrium Test demonstrated no evidence that variation at the nicotinic acetylcholine alpha 4 receptor Cfol polymorphism influences susceptibility to ADHD (P > 0.35). The continuing sample collection will enable further study of other potential nicotinic system polymorphisms in ADHD in more powerful samples.
Total Sample	The sample was recruited from several child psychiatry clinics in the United Kingdom and Ireland, and consisted of 70 parent-proband trios who were interviewed employing the Child and Adolescent Psychiatric Assessment (Angold et al., 1995). Probands were Caucasian, born in the United Kingdom or Ireland and were aged 5-16 years (mean age= 11.1 years, sd=3.0).
Sample Collection	The sample was recruited from several child psychiatry clinics in the United Kingdom and Ireland, and consisted of 70 parent-proband trios who were interviewed employing the Child and Adolescent Psychiatric Assessment (Angold et al., 1995).
Diagnosis Description	All probands fulfilled DSM-IV (USAn Psychiatric Association, 1994) diagnostic criteria for ADHD. Of the 70 probands, 59 (84%) were combined type, five (7%) were inatttentive subtype and six (9%) were hyper- active/impulsive subtype.
Technique	High molecular weight genomic DNA was extracted from either whole blood or cheekswab according to routine procedures. A same-sense T->C exchange in exon 5 of the CHRNA4 gene (bp 1545) creates a Cfo1 digestion site. This polymorphism was typed by PCR using a previously described method (Steinlein et al., 1997).
Analysis Method	Genotype frequencies in parents were compared with frequencies expected under Hardy-Weinberg equilibrium using the X² goodness of fit test. The Transmission Disequilibrium Test (TDT) (Spielman et al., 1993) was employed to test for allelic association.
Result Description	The Transmission Disequilibrium Test demonstrated no evidence that variation at the nicotinic acetylcholine alpha 4 receptor Cfol polymorphism influences susceptibility to ADHD (P > 0.35). The continuing sample collection will enable further study of other potential nicotinic system polymorphisms in ADHD in more powerful samples.

Other variant reported by this study (count: 1)

Genes reported by this study (count: 1)