In 615 healthy subjects from the FOR2107 cohort study, we analysed the genetic risk variants ZNF804A rs1344706 and CACNA1C rs1006737, psychometric schizotypy (schizotypal personality questionnaire-brief SPQB), and a neuropsychological measure of sustained and selective attention (d2 test).
At the level of individual SNPs, comparison of TEAM cases with healthy controls provided nominally significant evidence for association of SNP rs10848632 in CACNA1C with early-onset BD (P = .017), which did not remain significant after correction for multiple comparisons.
Here, we functionally analyzed p.S1961N Cav1.2 channels to elucidate whether this mutation regulates the expressivity of the long QT syndrome phenotype in this family.
A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel.
A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel.
It was also found that an increasing risk of schizophrenia was associated with rs228329</span>1 in males (OR: 1.62, 95% CI: 1.13-2.33, <i>P</i> = 0.0086, AIC = 669.7) in an overdominant model.
A known long QT syndrome-related mutation in Nav1.5 cardiac channels (p.R1644H) was found in 4 members of a Spanish family but only 1 of them showed prolongation of the QT interval.
Here, we functionally analyzed p.S1961N Cav1.2 channels to elucidate whether this mutation regulates the expressivity of the long QT syndrome phenotype in this family.
We studied a five-generation family, in which a CACNA1C variant c.2573G>Ap.Arg858His co-segregates with syncope and cardiac arrest, documenting electrocardiographic data and cardiac symptomatology.
We studied a five-generation family, in which a CACNA1C variant c.2573G>Ap.Arg858His co-segregates with syncope and cardiac arrest, documenting electrocardiographic data and cardiac symptomatology.
And rs10848683 was also found to associate with LAA stroke under recessive model (p = 0.027, OR = 0.618, 95% CI: 0.403-0.947) after adjustment for gender and age.
The sixth C-terminal variant, Ca<sub>v</sub>α<sub>1c</sub>-T1787M, present mostly in the African population, was identified in two patients with resuscitated cardiac arrest.
We identified a loss-of-function variant, Ca<sub>v</sub>α<sub>1c</sub>-T1787M, present in 0.8% of the African population, as a new risk factor for ventricular arrhythmia.
We subsequently replicated the association of one common SNP (rs1990322) in the CACNA1C locus with PTSD in an independent cohort of traumatized children.
We also found that significant difference existed between haplotypes (rs229961-rs215976-rs216008-rs10848683) and LAA stroke (C-T-C-C, p = 0.017, OR = 2.265, 95%CI: 1.136-4.518; G-C-C-C, p = 0.046, OR = 1.891, 95% CI: 1.003-3.565; C-T-C-T, p = 0.001, OR = 0.256, 95%CI: 0.101-0.645).
The results revealed that CACNA 1A rs2248069 and rsl6030, CACNA 1C rs216008 and rs2239050, and CACNA 1H rs3794619, and rs7191246 SNPs were all associated with DPN, while rs2248069, rsl6030, rs2239050, and rs7191246 polymorphisms were attributed to the susceptibility to DPN.
We also found that significant difference existed between haplotypes (rs229961-rs215976-rs216008-rs10848683) and LAA stroke (C-T-C-C, p = 0.017, OR = 2.265, 95%CI: 1.136-4.518; G-C-C-C, p = 0.046, OR = 1.891, 95% CI: 1.003-3.565; C-T-C-T, p = 0.001, OR = 0.256, 95%CI: 0.101-0.645).
The results revealed that CACNA 1A rs2248069 and rsl6030, CACNA 1C rs216008 and rs2239050, and CACNA 1H rs3794619, and rs7191246 SNPs were all associated with DPN, while rs2248069, rsl6030, rs2239050, and rs7191246 polymorphisms were attributed to the susceptibility to DPN.