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Ulcerative colitis (strict definition, require KELA, min 2 HDR)

DOID EFO Endpoint Browser PheWeb

K11_UC_STRICT2

ulcerative colitis: An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage.

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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

  • K11_KELAUC
  • and K11_ULCERnumber of events
  • >1
7276

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

Registry filters:

  • Hospital discharge: ICD-10 — K51
  • Hospital discharge: ICD-9 — 556
  • Hospital discharge: ICD-8 — 5631|569
  • Hospital discharge: excluded ICD-9 — 5564A
  • Cause of death: ICD-10 — K51
  • Cause of death: ICD-9 — 556
  • Cause of death: ICD-8 — 5631|569
  • Cause of death: excluded ICD-9 — 5564A

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

6648

4. Check minimum number of events

None

6648

5. Include endpoints

None

6648

6. Filter based on genotype QC (FinnGen only)

6435

Control definitions (FinnGen only)

Control conditions not K11_KELAUC

Extra metadata

Level in the ICD hierarchy C
First used in FinnGen datafreeze DF3
Parent code in ICD-10 K50-K52
Name in latin Colitis ulcerosa

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 41969 18869 22911
Only index persons 39683 18151 21532
Unadjusted period prevalence (%)
Whole population 0.59 0.54 0.64
Only index persons 0.75 0.67 0.82
Median age at first event (years)
Whole population 37.32 36.03 38.27
Only index persons 36.56 35.57 37.40

-FinnGen-

Key figures

All Female Male
Number of individuals 6435 3244 3191
Unadjusted period prevalence (%) 1.44 1.27 1.60
Median age at first event (years) 38.30 34.81 41.85

-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

Mortality – FinRegistry

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Association

Association between endpoint K11_UC_STRICT2 and mortality.

Females

Parameter HR [95% CI] p-value
K11_UC_STRICT2 1.017 [0.9, 1.15] 0.782
Birth year 0.995 [0.99, 1.0] 0.231

During the follow-up period (1.1.1998 — 31.12.2019), 854 out of 14198 females with K11_UC_STRICT2 died.

Males

Parameter HR [95% CI] p-value
K11_UC_STRICT2 0.958 [0.87, 1.06] 0.399
Birth year 0.984 [0.97, 0.99] < 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 1501 out of 17157 males with K11_UC_STRICT2 died.

Mortality risk

Mortality risk for people of age

years, who have K11_UC_STRICT2.

N-year risk Females Males
1 0.098% 0.165%
5 0.541% 1.007%
10 1.374% 2.582%
15 2.774% 4.897%
20 4.964% 8.31%

Relationships between endpoints

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Index endpoint: K11_UC_STRICT2 – Ulcerative colitis (strict definition, require KELA, min 2 HDR)

GWS hits: 44

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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