Journal: NAR Cancer
Article Title: Uncovering novel germline variants associated with testicular germ cell tumors by exome sequencing
doi: 10.1093/narcan/zcag007
Figure Lengend Snippet: Volcano plots of single-variant association results. Volcano plots display the distribution of germline variant associations comparing the TGCT discovery cohort to two independent control groups: ( A ) MXLA sample and ( B ) MXMC sample. The x -axis shows the log₂ OR, while the y-axis represents the –log₁₀ P -values from logistic regression models. Variants were prioritized based on predicted pathogenicity (CADD > 20, REVEL > 0.7, or classified as pathogenic/probably pathogenic in ClinVar). The horizontal red dashed line indicates the nominal significance threshold ( P = 0.05). Variants in genes previously highlighted in the gene-based aggregation analysis are shown in black. Arrows mark five exonic variants that showed the strongest and most consistent association signals across both comparisons: SLCO4A1 (rs147153778), ARFGAP1 (rs2273499), MC4R (rs79783591), ADGRB3 (rs137977887), and SDHA (rs138277996).
Article Snippet: Variant rs79783591 ( MC4R) was genotyped using the C_103 977 380_10 TaqMan® SNP Genotyping Assay (Applied Biosystems, UK) per manufacturer’s instructions.
Techniques: Variant Assay, Control