Association analysis of ANK3 gene variants with schizophrenia in a northern Chinese Han population

// Xiaojuan Guo 1 , Yani Zhang 1 , Jieli Du 2 , Hua Yang 3 , Yini Ma 3 , Jingjie Li 3 , Mengdan Yan 3 , Tianbo Jin 3, 4, 5, 6 , Xianyang Liu 1 1 Xi'an Mental Health Center, Xi’an, Shaanxi 710061, China 2 Inner Mongolia Medical University Hohhot 010010, Inner Mongolia, China 3 School of Life Sciences, Northwest University, Xi’an 710069, China 4 Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China 5 Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China 6 Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China Correspondence to: Xianyang Liu, email: liuxianyang2016@126.com Keywords: ANK3, schizophrenia risk, association, case-control study, Chinese Han population Received: September 18, 2016 Accepted: October 28, 2016 Published: November 03, 2016 ABSTRACT Schizophrenia is a chronic, severely debilitating mental disorder. Many studies have suggested that genetic factors play an important role in the onset and development of schizophrenia. In our study, we conducted a case-control study in a northern Chinese Han population of 499 schizophrenia patients and 500 controls to investigate the effect of variant genotypes of 13 SNPs in ANK3 on schizophrenia risk. Odds ratios (OR) and 95% confidence intervals (CI) were estimated using the chi-squared test, genetic model analysis, and haplotype analysis. Four ANK3 SNPs were associated with schizophrenia risk. The minor allele of rs958852 in ANK3 was associated with a 0.75-fold reduction in schizophrenia risk in an allelic model. In the genetic model, rs958852 was associated with a reduced schizophrenia risk, and rs10994336, rs10994338 and rs4948418 were associated with an increased schizophrenia risk (rs10994336, OR = 2.00, 95%CI: 1.01–3.94, p = 0.047; rs10994338, OR = 1.99, 95%CI: 1.01–3.93, p = 0.047; rs4948418, OR = 2.00, 95%CI: 1.01–3.94, p = 0.047). In addition, haplotype “TTC” of ANK3 was associated with a 0.73-fold reduced schizophrenia risk (95%CI: 0.54–0.99; p = 0.044). To our knowledge, this is the first to report of an association between ANK3 rs10994336, rs10994338, rs4948418 and rs958852 and schizophrenia risk in a northern Chinese Han population.