amyotrophic lateral sclerosis: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
64 |
4. Check minimum number of eventsNone |
64 |
5. Include endpointsNone |
64 |
6. Filter based on genotype QC (FinnGen only) |
64 |
Control definitions (FinnGen only)
- Control exclude
- G6_NEUATR
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- G12
- Name in latin
- Alia atrophia musculorum spinalis congenita
Similar endpoints
↥List of similar endpoints to
Other inherited muscular atrophy
based on the number of shared cases.
Similar with more cases:
- Systemic atrophies primarily affecting the central nervous system
- Neurological diseases
- Neurological diseases, wide definition
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 493 | 224 | 266 |
| Only index persons | 366 | 165 | 201 |
| 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 | 54.54 | 53.40 | 55.54 |
| Only index persons | 52.81 | 50.63 | 54.60 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 64 | 28 | 36 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.02 |
| Median age at first event (years) | 53.12 | 51.80 | 54.14 |
-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
CodeWAS (R11)
↥CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.
This is a new tool, please reach out using the contact form for feedback and improvement ideas.
First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.
Matched cohort
- Matched cases
- 56
- Matched controls
- 562
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G12.1
ICD-10 Finland
Other inherited spinal muscular atrophy
+∞
77.5
55
*
G12.2
ICD-10 Finland
Motor neuron disease
+∞
16.4
15
*
G12.8
ICD-10 Finland
Other spinal muscular atrophies and related syndromes
+∞
13.0
12
*
G12.9
ICD-10 Finland
Spinal muscular atrophy, unspecified
+∞
11.9
11
*
Z31.5
ICD-10 Finland
Genetic counselling
19.7
11.4
17
12
G12.0
ICD-10 Finland
Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]
+∞
7.4
7
*
Z46.8
ICD-10 Finland
Fitting and adjustment of other specified devices
35.0
7.4
9
*
G62.9
ICD-10 Finland
Polyneuropathy, unspecified
19.8
7.0
10
6
J96.1
ICD-10 Finland
Chronic respiratory failure
26.2
6.9
9
*
M41.4
ICD-10 Finland
Neuromuscular scoliosis
+∞
6.4
6
*
Mortality – FinRegistry
↥Association
Association between endpoint G6_OTHINMUSC and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_OTHINMUSC | 7.832 [4.76, 12.89] | < 0.001 |
| Birth year | 0.996 [0.99, 1.0] | 0.382 |
During the follow-up period (1.1.1998 — 31.12.2019), 79 out of 175 females with G6_OTHINMUSC died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_OTHINMUSC | 4.599 [2.98, 7.1] | < 0.001 |
| Birth year | 0.985 [0.98, 0.99] | 0.002 |
During the follow-up period (1.1.1998 — 31.12.2019), 96 out of 221 males with G6_OTHINMUSC died.
Mortality risk
Mortality risk for people of age
years, who have G6_OTHINMUSC.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.862% | 0.937% |
| 5 | 4.731% | 4.767% |
| 10 | 12.211% | 12.079% |
| 15 | 21.247% | 21.337% |
| 20 | 34.039% | 34.049% |
Relationships between endpoints
↥Index endpoint: G6_OTHINMUSC – Other inherited muscular atrophy
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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