Association analysis of Neuregulin 1 candidate regions in schizophrenia and bipolar disorder

作者：Walker Rosie M^*; Christoforou Andrea; Thomson Pippa A; McGhee Kevin A; Maclean Alan; Muehleisen Thomas W; Strohmaier Jana; Nieratschker Vanessa; Noethen Markus M; Rietschel Marcella; Cichon Sven; Morris Stewart W; Jilani Omer; StClair David; Blackwood Douglas H; Muir Walter J; Porteous David J; Evans Kathryn L

来源：Neuroscience Letters, 2010, 478(1): 9-13.

DOI：10.1016/j.neulet.2010.04.056

• Schizophrenia
• Bipolar disorder
• Neuregulin 1
• Association study

Schizophrenia (SCZ) and bipolar disorder (BPD) are severe heritable psychiatric disorders involving a complex genetic aetiology. Neuregulin 1 (NRG1) is a leading candidate gene for SCZ, and has recently been implicated in BPD. We previously reported association of two NRG1 haplotypes with SCZ and BPD in a Scottish case-control sample. One haplotype is located at the 5' end of the gene (region A), and the other is located at the 3' end (region B). Here, association to haplotypes within regions A and B was assessed in patients with SCZ and BPD in a second Scottish case-control sample and in the two Scottish samples combined. Association to region B was also assessed in patients with SCZ and BPD in a German case-control sample, and in all three samples combined. No evidence was found for association in the new samples when analysed individually; however, in the joint analysis of the two Scottish samples, a region B haplotype comprising two SNPs (rs6988339 and rs3757930) was associated with SCZ and the combined case group (SCZ: p=0.0037, OR = 1.3, 95% CI: 1.1-1.6; BPD +SCZ: p = 0.0080, OR = 1.2, 95% CI: 1.1-1.5), with these associations withstanding multiple testing correction at the single-test level (SCZ: p(st) = 0.022; BPD + SCZ: p(st) = 0.044). This study supports the involvement of NRG1 variants in the less well studied 3' region in conferring susceptibility to SCZ and BPD in the Scottish population.

• 出版日期2010-6-30
• 单位上海市精神卫生中心; 河北医科大学