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Acromegaly and pituitary gigantism

DOID EFO Endpoint Browser PheWeb

E4_ACROMEG

hyperpituitarism: Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma.

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Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

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

Registry filters:

  • Hospital discharge: ICD-10 — E22.0
  • Hospital discharge: ICD-9 — 2530
  • Hospital discharge: ICD-8 — 2530
  • Hospital discharge: excluded ICD-8 — 25301
  • Cause of death: ICD-10 — E22.0
  • Cause of death: ICD-9 — 2530
  • Cause of death: ICD-8 — 2530
  • Cause of death: excluded ICD-8 — 25301

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

222

4. Check minimum number of events

None

222

5. Include endpoints

None

222

6. Filter based on genotype QC (FinnGen only)

211

Control definitions (FinnGen only)

Control exclude E4_ENDOGLAND

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E22
Name in latin Acromegalia

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 1586 866 703
Only index persons 1180 661 519
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.02
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population 48.81 49.54 47.84
Only index persons 45.67 45.99 45.26

-FinnGen-

Key figures

All Female Male
Number of individuals 211 134 77
Unadjusted period prevalence (%) 0.05 0.05 0.04
Median age at first event (years) 45.13 42.96 48.90

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

No data

Mortality – FinRegistry

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Association

Association between endpoint E4_ACROMEG and mortality.

Females

Parameter HR [95% CI] p-value
E4_ACROMEG 1.68 [1.25, 2.25] < 0.001
Birth year 0.996 [0.99, 1.0] 0.335

During the follow-up period (1.1.1998 — 31.12.2019), 66 out of 432 females with E4_ACROMEG died.

Males

Parameter HR [95% CI] p-value
E4_ACROMEG 1.62 [1.24, 2.12] < 0.001
Birth year 0.99 [0.98, 1.0] 0.029

During the follow-up period (1.1.1998 — 31.12.2019), 70 out of 350 males with E4_ACROMEG died.

Mortality risk

Mortality risk for people of age

years, who have E4_ACROMEG.

N-year risk Females Males
1 0.147% 0.274%
5 0.885% 2.148%
10 2.427% 5.483%
15 4.67% 9.864%
20 8.7% 16.301%

Relationships between endpoints

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Index endpoint: E4_ACROMEG – Acromegaly and pituitary gigantism

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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