| Abstract |
精神分裂症is a prevalent psychiatric disorder with a complex etiology. Mitochondrial dysfunction has been frequently reported in精神分裂症. Phosphatase and tension homologue-induced kinase 1 (PINK1) and presenilin-associated rhomboid-like protease (PARL) are mitochondrial proteins, and genetic variants of these two genes may confer genetic susceptibility to精神分裂症by influencing mitochondrial function. In this study, we conducted a two-stage genetic association study to test this hypothesis. We genotyped 4 PINK1 and 5PARLgenetic variants and evaluated the potential association of the 9 SNPs with精神分裂症in two independent case-control cohorts of 2510 Han Chinese individuals. No positive association of common genetic variants of the PINK1 andPARLgenes with精神分裂症was identified in our samples after Bonferroni correction. Re-analysis of the newly updated Psychiatric Genetics Consortium (PGC) data sets confirmed our negative result. Intriguingly, one PINK1 SNP (rs10916832), which showed a marginally significant association in only Hunan samples (P = 0.032), is associated with the expression of a精神分裂症susceptible gene KIF17 according to the expression quantitative trait locus (eQTL) analysis. Our study indicated that common genetic variants of the PINK1 andPARLgenes are unlikely to be involved in精神分裂症. Further studies are essential to characterize the role of the PINK1 andPARLgenes in精神分裂症. |