Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate

Atten Defic Hyperact Disord. 2009 May;1(1):19-24. doi: 10.1007/s12402-009-0003-5. Epub 2009 Apr 25.


The neural nicotinic acetylcholine receptor α4 subunit (CHRNA4), at 20q13.2-q13.3, is an important candidate gene for conferring susceptibility to attention deficit/hyperactivity disorder (ADHD). Several studies have already looked for association/linkage between ADHD and CHRNA4 in different populations. We used the Pedigree Disequilibrium Test to search for evidence of association between ADHD and six SNP marker loci in families from the isolated Paisa population. We found that the T allele of SNP rs6090384 exhibits a deficit of transmission in unaffected individuals (OR = 5.43, IC 1.54-19.13) (global P value = 0.014). We also found significant association and linkage to extended haplotypes rs2273502-rs6090384 (combination of variants C-T, respectively) (P = 0.02) and rs6090384-rs6090387 (P = 0.04) (combination of variants T-G, respectively). SNP rs6090384, variant T, has also been reported to be associated with inattention in a previous study. This makes ours the ninth study to examine the association of CHRNA4 with ADHD and the seventh one to find evidence for association in a population with a different ethnicity.

MeSH terms

  • Attention Deficit Disorder with Hyperactivity / genetics*
  • Genetic Linkage
  • Genetic Predisposition to Disease*
  • Haplotypes
  • Humans
  • Indians, South American / genetics*
  • Linkage Disequilibrium / genetics
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Receptors, Nicotinic / genetics*


  • Receptors, Nicotinic
  • nicotinic acetylcholine receptor alpha4 subunit