title: Genetic analysis of the human ENTH (Epsin 4) gene and schizophrenia.
abstract: Numerous linkage studies suggest that chromosome 5q may be one of the important cytogenetic regions containing risk loci for schizophrenia susceptibility. Recently, genetic variations (rs254664 and rs10046055) in the intron 1 and 5' flanking regions of the ENTH (also known as Epsin 4) gene, which is located in 5q 33.3, have been demonstrated to be significantly associated with schizophrenia. The present study investigates whether this finding could be replicated in a population of Han Chinese, consisting of 269 patients with schizophrenia and 236 normal controls, by analyzing 9 single nucleotide polymorphisms (SNPs) ranging from the 5' upstream region to intron 8 of the ENTH gene and covering 96 kb. The results showed that we failed to identify the associations of rs1186922 and rs10046055 with schizophrenia. Although another genetic variation (rs1186922) showed a weak association with schizophrenia (uncorrected p value for alleles = 0.038), the significance did not survive after Bonferroni correction. This study thus fails to support an association of genetic variations in the ENTH gene and schizophrenia.
authors.affiliation: Institute of Clinical Medicine, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
authors.forename: Ying-Jay
authors.initials: YJ
authors.lastname: Liou
authors.forename: I-Ching
authors.initials: IC
authors.lastname: Lai
authors.forename: Ying-Chieh
authors.initials: YC
authors.lastname: Wang
authors.forename: Ya-Mei
authors.initials: YM
authors.lastname: Bai
authors.forename: Chao-Cheng
authors.initials: CC
authors.lastname: Lin
authors.forename: Chih-Yuan
authors.initials: CY
authors.lastname: Lin
authors.forename: Tzu-Ting
authors.initials: TT
authors.lastname: Chen
authors.forename: Jen-Yeu
authors.initials: JY
authors.lastname: Chen
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D039721:Diagnostic and Statistical Manual of Mental Disorders; D005091:Exons; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012559:Schizophrenia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D033942:Adaptor Proteins, Vesicular Transport; C475910:CLINT1 protein, human