Disorders of plasma-protein metabolism, not elsewhere classified

E4_PLASMAPROT

obsolete_alpha-1-antitrypsin deficiency: ['A lung disease that is characterized as a genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. Alpha-1 antitrypsin works to protect the lungs from a naturally occuring destructive enzyme that is produced by the lungs in response to infections and toxins (such as cigarette smoke). Without enough A1AT, these enzymes slowly destroy the lung tissue causing emphysema. The symptoms include shortness of breath, wheezing, rhonchi, and rales.']

Endpoint definition

FinnGen phenotype data

429209 individuals

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Apply sex-specific rule None

429209

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Check conditions None

429209

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Check pre-conditions, main-only, mode, registry filters

Hospital Discharge: ICD-10 E88.0#
Hospital discharge: ICD-9 273[8-9]
Cause of death: ICD-10 E88.0#
Cause of death: ICD-9 273[8-9]

2 out of 7 registries used, show all original rules.

189

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Check minimum number of events None

189

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Include endpoints None

189

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Remove individuals based on genotype QC

183

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E4_PLASMAPROT

Control definitions

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E88
Name in latin Perturbationes metabolismi proteinorum plasmaticorum non alibi classificatae

Summary Statistics

Key figures

All Female Male
Number of individuals 183 96 87
Unadjusted prevalence (%) 0.04 0.04 0.05
Mean age at first event (years) 50.63 49.14 52.29

Mortality

Follow-up Absolute risk HR [95% CI] p N
1998–2019 - - - -
15 years - - - -
5 years - - - -
1 year - - - -

Age distribution of first events

Year distribution of first events

Cumulative Incidence

Correlations

Index endpoint: E4_PLASMAPROT – Disorders of plasma-protein metabolism, not elsewhere classified
GWS hits: 8

Survival analyses between endpoints

Plot

before Disorders of plasma-protein metabolism, not elsewhere classified
after Disorders of plasma-protein metabolism, not elsewhere classified

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Drugs most likely to be purchased after Disorders of plasma-protein metabolism, not elsewhere classified

Endpoint not on priority list, no data to show.