Prevalence estimation of ATTRv in China based on genetic databases

Area of Science:

• Genetics
• Epidemiology
• Rare Diseases

Background:

• Hereditary transthyretin amyloidosis (ATTRv) is a rare autosomal dominant disease.
• Previous global prevalence estimates for ATTRv may be underestimated.
• The exact prevalence of ATTRv in mainland China is currently unknown.

Purpose of the Study:

• To estimate the global and mainland Chinese prevalence of hereditary transthyretin amyloidosis (ATTRv).
• To identify pathogenic variants associated with ATTRv.
• To compare current estimates with traditional prevalence data.

Main Methods:

• Integrated data from large-scale genomic databases: gnomAD, ChinaMAP, and Amcarelab.
• Calculated pathogenic variant allele frequencies.
• Determined ATTRv prevalence in world and mainland Chinese populations.

Main Results:

• Identified six pathogenic variants in gnomAD, estimating global ATTRv prevalence at 57.4/100,000.
• Detected pathogenic variants in ChinaMAP and Amcarelab databases.
• Estimated mainland China ATTRv prevalence at 18.9/100,000–74.9/100,000.

Conclusions:

• Traditional methods significantly underestimate ATTRv prevalence.
• Genomic database analysis provides a more accurate prevalence estimate.
• Increased disease awareness is crucial for early ATTRv diagnosis.