Genetic Variants in Contrast Media Hypersensitivity Study

A Korean case-control study investigates genetic factors associated with iodinated contrast media-induced immediate hypersensitivity reactions. The dataset contains whole exome sequencing results from 31 participants, including 20 patients with reactions and 11 controls. The research was authored by Noeul Kang and published in 2026.

Use Cases

• Assess association of the FASTKD1 variant (rs12618227) with protective effects against hypersensitivity reactions.
• Perform gene-wise variant burden analysis on genes like FASTKD1 and HACL1 to identify protective genetic profiles.
• Investigate copy number variations, such as SIRPB1 deletions, as potential risk factors for immediate hypersensitivity.
• Correlate immune cell expression data for candidate genes (FASTKD1, HACL1, SIRPB1) with patient outcomes.

Strengths

• Data includes whole exome sequencing results for 31 genotyped individuals.
• Analysis employs multiple methods: SNV association, gene-wise burden, and CNV detection.
• Findings are supported by specific statistical metrics (e.g., FDR p < 0.10 for rs12618227).

Limitations

• Very small sample size of 31 participants limits statistical power and generalizability.
• Dataset is tiny (5.5 KB), indicating it likely contains only summary-level or key variant data, not raw sequences.
• Geographic origin is implied but not explicitly stated, potentially introducing population bias.

Provenance

Source

Figshare, authored by Noeul Kang.

Collection Method

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

Freshness

Last updated in March 2026.

Geography

Implied to be South Korea based on author name and common study context.