macular degeneration: Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. [ NCIT:P378 ]
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
4298 |
4. Check minimum number of eventsNone |
4298 |
5. Include endpointsNone |
4298 |
6. Filter based on genotype QC (FinnGen only) |
4159 |
Control definitions (FinnGen only)
Control exclude
H7_CHOROIDRETINA
Extra metadata
Level in the ICD hierarchy
5
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
H35
Name in latin
Striae angioides maculae
Similar endpoints
↥List of similar endpoints to
Degenerative macular diseases
based on the number of shared cases.
Similar with more cases:
- Degeneration of macula and posterior pole
- Other retinal disorders
- Disorders of choroid and retina
- Diseases of the eye and adnexa
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 33887 | 19783 | 14000 |
| Only index persons | 32124 | 18934 | 13190 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.49 | 0.57 | 0.39 |
| Only index persons | 0.62 | 0.70 | 0.50 |
| Median age at first event (years) | |||
| Whole population | 70.47 | 70.87 | 69.89 |
| Only index persons | 70.16 | 70.58 | 69.55 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 4159 | 2232 | 1927 |
| Unadjusted period prevalence (%) | 0.92 | 0.88 | 0.97 |
| Median age at first event (years) | 68.56 | 67.28 | 70.05 |
-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
↥Association
Association between endpoint MACULA_NAS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| MACULA_NAS | 0.835 [0.77, 0.9] | < 0.001 |
| Birth year | 0.996 [0.99, 1.0] | 0.321 |
During the follow-up period (1.1.1998 — 31.12.2019), 5005 out of 18044 females with MACULA_NAS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| MACULA_NAS | 0.831 [0.76, 0.91] | < 0.001 |
| Birth year | 0.989 [0.98, 1.0] | 0.015 |
During the follow-up period (1.1.1998 — 31.12.2019), 3981 out of 12716 males with MACULA_NAS died.
Mortality risk
Mortality risk for people of age
years, who have MACULA_NAS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.082% | 0.134% |
| 5 | 0.476% | 0.925% |
| 10 | 1.182% | 2.498% |
| 15 | 2.459% | 4.884% |
| 20 | 4.356% | 8.585% |
Relationships between endpoints
↥Index endpoint: MACULA_NAS – Degenerative macular diseases
GWS hits: 2
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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