Mitochondrial myopathy

G6_MITOCMY

Endpoint definition

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 G71.3
  • Cause of death: ICD-10 G71.3

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

130

4. Check minimum number of events

None

130

5. Include endpoints

None

130

6. Filter based on genotype QC (FinnGen only)

124

Control definitions (FinnGen only)

Control exclude G6_MYONEU

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 G71
Name in latin Myopathia mitochondrialis non alibi classificata

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 856 465 387
Only index persons 696 388 308
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 46.83 50.41 42.39
Only index persons 46.69 49.89 42.65

-FinnGen-

Key figures

All Female Male
Number of individuals 124 77 47
Unadjusted period prevalence (%) 0.03 0.03 0.02
Median age at first event (years) 48.67 48.68 48.66

-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

Association

Association between endpoint G6_MITOCMY and mortality.

Females

Parameter HR [95% CI] p-value
G6_MITOCMY 4.998 [3.54, 7.06] < 0.001
Birth year 0.995 [0.99, 1.0] 0.267

During the follow-up period (1.1.1998 — 31.12.2019), 104 out of 373 females with G6_MITOCMY died.

Males

Parameter HR [95% CI] p-value
G6_MITOCMY 4.33 [2.96, 6.34] < 0.001
Birth year 0.986 [0.98, 1.0] 0.009

During the follow-up period (1.1.1998 — 31.12.2019), 90 out of 317 males with G6_MITOCMY died.

Mortality risk

Mortality risk for people of age

years, who have G6_MITOCMY.

N-year risk Females Males
1 0.585% 0.899%
5 3.166% 5.188%
10 7.96% 12.612%
15 13.614% 22.547%
20 22.641% 35.342%

Relationships between endpoints

Index endpoint: G6_MITOCMY – Mitochondrial myopathy

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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