Abstract
ObjectivesGenome-wide association studies (GWAS) suggest that rs9371601 in the SYNE1 gene is a risk SNP for bipolar disorder (BPD) in populations of European ancestry, but further replication analyses across distinct populations are needed.MethodsWe analyzed the association between rs9371601 and BPD in a Han Chinese sample of 1315 BPD cases and 1956 controls.ResultsWe observed a significant association between rs9371601 and BPD in Han Chinese (p = 0.0121, OR = 0.859). However, further examinations revealed that the Europeans and Chinese subjects had different BPD risk alleles at the locus. We then found that rs9371601 had different “minor alleles” and distinct linkage disequilibrium (LD) patterns surrounding itself in Europeans and Han Chinese, which might be the explanation of the observed inconsistent association signals for this locus in different populations. Our explorative analyses of the biological impact of rs9371601 suggested that this SNP was significantly associated with the methylation of a CpG site (cg01844274, p = 5.05⨯10− 6) within SYNE1 in human dorsal lateral prefrontal cortex (DLPFC) tissues.ConclusionsOur data confirms the association between rs9371601 and BPD, but the underlying biological mechanism remains to be fully elucidated in further studies.
Highlights
Bipolar disorder (BPD) is a severe neuropsychiatric disorder with a lifetime prevalence of ~ 0.75% worldwide [1, 2]
Since rs9371601 was discovered as a BPD risk single nucleotide polymorphism (SNP) in European populations, we have explored the recent two genome-wide association studies (GWAS) in East Asians [8, 30] to examine its link with BPD in other populations in the world
Queries about the impact of rs9371601 To investigate the potential impact of rs9371601, we examined the association between this SNP and the mRNA expression of nearby genes in brain and blood tissues using several expression quantitative trait loci databases
Summary
Bipolar disorder (BPD) is a severe neuropsychiatric disorder with a lifetime prevalence of ~ 0.75% worldwide [1, 2]. One epic study in the field of BPD genetics was the meta-analysis of multiple BPD GWAS datasets followed by independent replications by the Bipolar Disorder Working Group of Psychiatric Genomics Consortium (PGC1) in 2011 [13]. Majority of the follow-up efforts have been put into understanding whether genes highlighted in these GWAS are susceptibility genes of BPD in populations other than Europeans [16,17,18,19,20,21], and such crosspopulation replications were not limited to BPD [22,23,24,25].
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