rs2007044

This paper presents CalPen, a web-based tool for calculating penetrance (disease likelihood given a mutation) in complex genetic disorders. The authors validated CalPen against published penetrance calculations for schizophrenia-associated copy number variants (CNVs) and single nucleotide polymorphisms (SNPs). They analyzed 15 CNVs in 39,059 schizophrenia patients and 55,084 controls (average penetrance 7%, ranging from ~1.4% for 15q11.2 deletions to ~20% for 22q11.21 CNVs) and 145 SNPs in 45,405 patients and 122,761 controls (average penetrance 0.7%, with rs1801028 showing the highest at 1.6%).

Study of 1086 Finnish infants from the CHILD-SLEEP cohort examined associations between seven CACNA1C variants previously linked to psychiatric disorders and infant sleep parameters. Three variants (rs4765913, rs4765914, rs2239063) were significantly associated with prolonged sleep latency (permuted P < 0.05), with rs2239063 showing the strongest dominant model association (beta = -0.4023, P = 0.0037). No significant associations were found with sleep duration or night awakenings.

A PhD dissertation investigating the cell type-specific effects of CACNA1C, a cross-disorder psychiatric risk gene encoding the α1 subunit of the L-type voltage-gated calcium channel Cav1.2. The dissertation reviews human genetic studies showing associations between multiple CACNA1C SNPs (including rs1006737, rs1024582, rs2007044) and psychiatric disorders (bipolar disorder, schizophrenia, major depression, autism), then presents preclinical studies using conditional knockout mouse models to elucidate the neurobiological mechanisms underlying these genetic associations through behavioral testing, electrophysiology, and molecular analyses.