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Nontoxic diffuse goitre

DOID EFO Endpoint Browser PheWeb

E4_GOITREDIFF

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 — E04.0
  • Hospital discharge: ICD-9 — 2400
  • Hospital discharge: ICD-8 — 240
  • Cause of death: ICD-10 — E04.0
  • Cause of death: ICD-9 — 2400
  • Cause of death: ICD-8 — 240

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

1045

4. Check minimum number of events

None

1045

5. Include endpoints

None

1045

6. Filter based on genotype QC (FinnGen only)

1007

Control definitions (FinnGen only)

Control exclude E4_THYROID

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E04
Name in latin Struma atoxica diffusa

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 8966 7514 1404
Only index persons 7805 6684 1121
Unadjusted period prevalence (%)
Whole population 0.19 0.22 0.04
Only index persons 0.22 0.25 0.04
Median age at first event (years)
Whole population 54.97 54.35 58.33
Only index persons 53.79 53.13 57.68

-FinnGen-

Key figures

All Female Male
Number of individuals 1007 853 154
Unadjusted period prevalence (%) 0.30 0.34 0.08
Median age at first event (years) 52.23 51.12 58.40

-FinRegistry-

Age distribution of first events

01020304050607080900.0k0.2k0.4k0.6k0.8k1.0k1.2k1.4k1.6k1.8k2.0kAgeIndividuals

-FinnGen-

Age distribution of first events

01020304050607080020406080100120140160180200220240260AgeIndividuals

-FinRegistry-

Year distribution of first events

1970197519801985199019952000200520102015202020220.0k0.1k0.2k0.3k0.4k0.5k0.6k0.7k0.8k0.9k1.0k1.1k1.2k1.3kYearIndividuals

-FinnGen-

Year distribution of first events

197019751980198519901995200020052010201520202023020406080100120140160YearIndividuals

-FinRegistry-

Cumulative Incidence Function

01020304050607080901000.00.10.20.30.40.50.60.70.80.91.0AgeProbability of first incidence (%)

-FinnGen-

Cumulative Incidence Function

01020304050607080901000.00.10.20.30.40.50.60.70.80.91.0AgeProbability of first incidence (%)

Mortality – FinRegistry

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Association

Association between endpoint E4_GOITREDIFF and mortality.

Females

Parameter HR [95% CI] p-value
E4_GOITREDIFF 1.08 [0.97, 1.2] 0.166
Birth year 0.994 [0.99, 1.0] 0.153

During the follow-up period (1.1.1998 — 31.12.2019), 753 out of 4980 females with E4_GOITREDIFF died.

Males

Parameter HR [95% CI] p-value
E4_GOITREDIFF 1.199 [1.0, 1.44] 0.05
Birth year 0.985 [0.98, 0.99] 0.002

During the follow-up period (1.1.1998 — 31.12.2019), 221 out of 886 males with E4_GOITREDIFF died.

Mortality risk

Mortality risk for people of age

years, who have E4_GOITREDIFF.

N-year risk Females Males
1 0.093% 0.187%
5 0.582% 1.244%
10 1.489% 3.239%
15 2.926% 5.961%
20 5.264% 10.079%

Relationships between endpoints

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Index endpoint: E4_GOITREDIFF – Nontoxic diffuse goitre

GWS hits: 3

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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