Katherine Jean Aitchison

Trans-ancestry genome-wide association meta-analysis of antidepressant response to selective serotonin reuptake inhibitors in clinical studies of depression

This study performs a trans-ancestry GWAS of SSRI response in depression, finding suggestive associations and enrichment in serotonergic pathways but no genome-wide significant variants.

A novel pharmacogenetic testing panel for CYP2C19 genetic polymorphisms

This paper introduces a cost-effective multiplex genotyping method for CYP2C19 variants using FAS-PCR, achieving accurate genotype calls comparable to pyrosequencing.

Haplotype phasing of CYP2D6: an allelic ratio method using Agena MassARRAY data

This paper introduces a new protocol for CYP2D6 haplotype phasing using Agena MassARRAY data, achieving 100% concordance with prior data and resolving copy numbers in some reference samples.

Single molecule long-read real-time amplicon-based sequencing of CYP2D6: a proof-of-concept with hybrid haplotypes

This paper develops a HiFi SMRT amplicon-based method to accurately detect CYP2D6 haplotypes, including fusion genes, with high alignment accuracy.

Cross-validation of technologies for genotyping CYP2D6 and CYP2C19

The paper cross-validates genotyping methods for CYP2D6 and CYP2C19, finding high concordance for CYP2C19 and feasibility of NGS for CYP2D6 with automated interpretation.

Effect of cytochrome CYP2C19 metabolizing activity on antidepressant response and side effects: meta-analysis of data from genome-wide association studies

This paper conducts a meta-analysis showing that CYP2C19 poor metabolizers have better antidepressant efficacy but similar side effects compared to extensive metabolizers.

Assessing 42 inflammatory markers in 321 control subjects and 887 major depressive disorder cases: BMI and other confounders and overall predictive ability for current depression

The paper evaluates 42 inflammatory markers in MDD cases and controls, finding strong confounding effects and limited predictive power of individual markers for MDD diagnosis.

New insights on the pharmacogenomics of antidepressant response from the GENDEP and STAR*D studies: rare variant analysis and high-density imputation

This study identifies two SNPs associated with antidepressant response in GENDEP and STAR*D studies but finds limited replication in independent cohorts.

Pharmacogenetics of antidepressant response: a polygenic approach

This study investigates whether polygenic risk scores (PRS) can predict antidepressant response in MDD, finding no significant predictive effect.