title: Evaluation of genetic susceptibility of common variants in CACNA1D with schizophrenia in Han Chinese.
abstract: The heritability of schizophrenia (SCZ) has been estimated to be as high as 80%, suggesting that genetic factors may play an important role in the etiology of SCZ. Cav1.2 encoded by CACNA1C and Cav1.3 encoded by CACNA1D are dominant calcium channel-forming subunits of L-type Voltage-dependent Ca(2+) channels, expressed in many types of neurons. The CACNA1C has been consistently found to be a risk gene for SCZ, but it is unknown for CACNA1D. To investigate the association of CACNA1D with SCZ, we designed a two-stage case-control study, including a testing set with 1117 cases and 1815 controls and a validation set with 1430 cases and 4295 controls in Han Chinese. A total of selected 97 tag single nucleotide polymorphisms (SNPs) in CACNA1D were genotyped, and single-SNP association, imputation analysis and gender-specific association analyses were performed in the two independent datasets. None was found to associate with SCZ. Further genotype and haplotype association analyses indicated a similar pattern in the two-stage study. Our findings suggested CACNA1D might not be a risk gene for SCZ in Han Chinese population, which add to the current state of knowledge regarding the susceptibility of CACNA1D to SCZ.
authors.affiliation: 1] Key Laboratory of Environment and Genes Related to Diseases, Ministry of Education, Xi'an, China. [2] Institute of Human Genomics &Forensic Sciences, Xi'an, China.
authors.forename: Fanglin
authors.initials: F
authors.lastname: Guan
authors.affiliation: Key Laboratory of National Ministry of Health for Forensic Sciences, School of Medicine &Forensics, Xi'an Jiaotong University, Xi'an, China.
authors.forename: Lu
authors.initials: L
authors.lastname: Li
authors.affiliation: Key Laboratory of National Ministry of Health for Forensic Sciences, School of Medicine &Forensics, Xi'an Jiaotong University, Xi'an, China.
authors.forename: Chuchu
authors.initials: C
authors.lastname: Qiao
authors.affiliation: Key Laboratory of National Ministry of Health for Forensic Sciences, School of Medicine &Forensics, Xi'an Jiaotong University, Xi'an, China.
authors.forename: Gang
authors.initials: G
authors.lastname: Chen
authors.affiliation: 1] Key Laboratory of National Ministry of Health for Forensic Sciences, School of Medicine &Forensics, Xi'an Jiaotong University, Xi'an, China. [2] Department of Forensic Psychiatry, School of Medicine &Forensics, Xi'an Jiaotong University, Xi'an, China.
authors.forename: Tinglin
authors.initials: T
authors.lastname: Yan
authors.affiliation: 1] Key Laboratory of National Ministry of Health for Forensic Sciences, School of Medicine &Forensics, Xi'an Jiaotong University, Xi'an, China. [2] Department of Forensic Psychiatry, School of Medicine &Forensics, Xi'an Jiaotong University, Xi'an, China.
authors.forename: Tao
authors.initials: T
authors.lastname: Li
authors.affiliation: Department of Psychiatry, Washington University in Saint Louis, MO, USA.
authors.forename: Tianxiao
authors.initials: T
authors.lastname: Zhang
authors.affiliation: 1] Key Laboratory of Environment and Genes Related to Diseases, Ministry of Education, Xi'an, China. [2] Key Laboratory of National Ministry of Health for Forensic Sciences, School of Medicine &Forensics, Xi'an Jiaotong University, Xi'an, China. [3] Department of Forensic Psychiatry, School of Medicine &Forensics, Xi'an Jiaotong University, Xi'an, China.
authors.forename: Xinshe
authors.initials: X
authors.lastname: Liu
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D020746:Calcium Channels, L-Type / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012559:Schizophrenia / Q000235:genetics* / Q000473:pathology
chemical_list: C472073:CACNA1D protein, human; D020746:Calcium Channels, L-Type