COPD — GENETIC RISK

COPD Genetic Risk — alpha-1 antitrypsin deficiency causes 1-3% of COPD and is treatable with augmentation therapy, yet the average diagnostic delay is 7 years and most AATD patients are never correctly diagnosed.

Whole genome sequencing evaluates SERPINA1 (alpha-1 antitrypsin Z and S alleles), HHIP, FAM13A, CHRNA3/5, and additional COPD susceptibility genes — identifying the 1-3% of COPD with a treatable genetic cause.

SERPINA1
HHIP
FAM13A
CHRNA3
MMP12

About this condition

COPD — Genetic Risk & Alpha-1

COPD affects ~16 million Americans with ~40-50% heritability. Alpha-1 antitrypsin deficiency (AATD, SERPINA1 pathogenic variants) is the most well-established genetic cause, accounting for 1-3% of COPD. The Z allele (Glu342Lys) in homozygous form (PiZZ) causes severe AATD with early-onset emphysema (30s-40s). The average diagnostic delay for AATD is 7 years, and most AATD patients see 3+ physicians before diagnosis.

AATD treatment includes FDA-approved augmentation therapy (IV alpha-1 proteinase inhibitor infusions — Prolastin, Aralast, Zemaira) which slows lung function decline. Without AATD diagnosis, patients receive standard COPD therapy without augmentation — missing the disease-modifying treatment. Additionally, AATD causes liver disease (10-15% of PiZZ adults develop cirrhosis), requiring hepatology surveillance.

Beyond AATD, GWAS have identified multiple COPD susceptibility loci: HHIP (hedgehog interacting protein), FAM13A, CHRNA3/CHRNA5 (nicotinic acetylcholine receptor — also mediates nicotine dependence), and MMP12. These common variants contribute to polygenic COPD risk even in non-smokers.

AATD patients wait an average of 7 YEARS for correct diagnosis. They see 3+ physicians. Most are never diagnosed at all. If you have early-onset emphysema or COPD without heavy smoking — get SERPINA1 testing.

Gene locus: SERPINA1 (14q32.13), HHIP (4q31.21), FAM13A (4q22.1), CHRNA3 (15q25.1), MMP12 (11q22.2)

1-3% of COPD has a treatable genetic cause (AATD) with FDA-approved augmentation therapy. Most AATD patients are never diagnosed. WGS identifies AATD and all COPD susceptibility variants.

Augmentation therapy slows AATD lung function decline — but only if the genetic diagnosis is made

FDA-approved IV alpha-1 proteinase inhibitor infusions slow emphysema progression in PiZZ AATD. Without molecular SERPINA1 diagnosis, patients receive only standard COPD inhalers while their lung function declines at an accelerated rate. WGS identifies Z and S alleles definitively.

AATD causes liver cirrhosis in 10-15% of PiZZ adults — hepatology surveillance is required alongside pulmonary care

AATD liver disease is caused by accumulation of misfolded Z-AAT protein in hepatocytes, independent of the lung disease mechanism. Without AATD diagnosis, liver surveillance is never initiated. WGS reveals the SERPINA1 genotype that triggers both pulmonary and hepatology surveillance.

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