ascorbic acid deficiency: A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into scurvy in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)
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. |
150 |
4. Check minimum number of eventsNone |
150 |
5. Include endpointsNone |
150 |
6. Filter based on genotype QC (FinnGen only) |
144 |
Control definitions (FinnGen only)
Control exclude
E4_NUTRIDEF
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E50-E64
Name in latin
Deficientia vitamini A
Similar endpoints
↥List of similar endpoints to
Vitamin A deficiency
based on the number of shared cases.
Similar with more cases:
- Vitamin deficiency
- Vitamin deficiency
- Other nutritional deficiencies
- Endocrine, nutritional and metabolic diseases
- Any operation in hilmo
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1746 | 1131 | 591 |
| Only index persons | 1302 | 892 | 410 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.03 | 0.03 | 0.02 |
| Only index persons | 0.03 | 0.03 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 65.53 | 63.81 | 68.82 |
| Only index persons | 58.80 | 56.29 | 64.25 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 144 | 95 | 49 |
| Unadjusted period prevalence (%) | 0.03 | 0.04 | 0.02 |
| Median age at first event (years) | 54.06 | 46.32 | 69.07 |
-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 E4_VIT_A_DEF and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_VIT_A_DEF | 2.193 [1.78, 2.7] | < 0.001 |
| Birth year | 0.994 [0.99, 1.0] | 0.182 |
During the follow-up period (1.1.1998 — 31.12.2019), 420 out of 942 females with E4_VIT_A_DEF died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_VIT_A_DEF | 2.936 [2.06, 4.18] | < 0.001 |
| Birth year | 0.986 [0.98, 1.0] | 0.004 |
During the follow-up period (1.1.1998 — 31.12.2019), 282 out of 450 males with E4_VIT_A_DEF died.
Mortality risk
Mortality risk for people of age
years, who have E4_VIT_A_DEF.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.208% | 0.662% |
| 5 | 1.253% | 3.621% |
| 10 | 2.98% | 7.887% |
| 15 | 5.729% | 14.718% |
| 20 | 10.213% | 23.711% |
Relationships between endpoints
↥Index endpoint: E4_VIT_A_DEF – Vitamin A deficiency
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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