Haplotype phasing of a bipolar disorder pedigree revealed rare multiple mutations of SPOCD1 gene in the 1p36–35 susceptibility locus

• Published in: Journal of affective disorders Vol. 310; pp. 96 - 105
• Main Authors: Takamatsu, Gakuya, Yanagi, Kumiko, Koganebuchi, Kae, Yoshida, Fuyuko, Lee, Jun-Seok, Toyama, Kanako, Hattori, Kotaro, Katagiri, Chiaki, Kondo, Tsuyoshi, Kunugi, Hiroshi, Kimura, Ryosuke, Kaname, Tadashi, Matsushita, Masayuki
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.08.2022
• Subjects: Bipolar and related disorders; DNA transposable elements; Genetic association studies; Genetic linkage; Major depressive disorder; Psychiatric/Mental Health; Whole genome sequencing; LINE-1; BD; WGS; GWAS; WES; Whole genome sequencing; CNV; DSM-IV-TR; MDD; Major depressive disorder; sMDD; PRS; 1000GP; RDD; SNP; RNA-seq; LOD; SV; DNA transposable elements; qRT-PCR; PBMC; GWEIS; TE; Bipolar and related disorders; MAF; Genetic linkage; Genetic association studies; Polygenic risk score; Structural variant; Copy number variant; 1000 Genomes Project; Bipolar disorder; Long interspersed element-1; Major depressive disorder with a single episode; Genome-wide association study; Peripheral blood mononuclear cell; Recurrent major depressive disorder; Minor allele frequency; RNA sequencing; Quantitative real-time PCR; Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision; Whole-exome sequencing; Transposable element; Genome-wide by environment interaction study; Single nucleotide polymorphism; Logarithm of odds

The etiology of bipolar disorder (BD) is poorly understood. Considering the complexity of BD, pedigree-based sequencing studies focusing on haplotypes at specific loci may be practical to discover high-impact risk variants. This study comprehensively examined the haplotype sequence at 1p36–35 BD and...