Genetic Variants in Contrast Media Hypersensitivity

Figshare hosts a case-control dataset from a study investigating genetic factors associated with iodinated contrast media-induced immediate hypersensitivity reactions. The dataset contains whole exome sequencing results from 31 total participants (20 cases with reactions and 11 tolerant controls). Noeul Kang authored this data, which was last updated in March 2026.

Use Cases

• Identify protective genetic variants like rs12618227 in FASTKD1 by comparing allele frequencies between case and control groups.
• Perform gene-wise variant burden analysis on candidate genes such as FASTKD1 and HACL1 using aggregated variant scores.
• Detect copy number variations, like SIRPB1 deletions, associated with case status using complementary CNV detection algorithms.
• Correlate genetic findings from saliva-derived DNA with immune cell expression data for genes like SIRPB1 expressed in granulocytes.

Strengths

• Dataset includes whole exome sequencing data for 31 genotyped individuals.
• Analyses cover SNV association, gene-wise burden testing, and CNV detection across multiple algorithms.
• Data is recent, with a last update in 2026.

Limitations

• Sample size is very small with only 31 total participants, limiting statistical power.
• The case-control study design with 20 cases and 11 controls creates a significant class imbalance.
• Findings require validation in larger, independent cohorts as noted by the authors.

Provenance

Source

Noeul Kang, via figshare.

Collection Method

Whole exome sequencing performed on DNA extracted from saliva samples in a case-control study.

Freshness

Last updated March 2026.