hyperparathyroidism: Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes.
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:
3 out of 7 registries used, show all original rules. |
6931 |
4. Check minimum number of events
Min. number of events
3
|
6931 |
5. Include endpointsNone |
6931 |
6. Filter based on genotype QC (FinnGen only) |
6684 |
Control definitions (FinnGen only)
Control exclude
E4_ENDOGLAND
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Similar endpoints
↥List of similar endpoints to
Hyperparathyroidism
based on the number of shared cases.
Similar with more cases:
- Disorders of parathyroid gland
- Disorders of other endocrine glands
- Endocrine, nutritional and metabolic diseases
- 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 | 72939 | 59029 | 13215 |
| Only index persons | 55193 | 45073 | 10120 |
| Unadjusted period prevalence (%) | |||
| Whole population | 1.44 | 1.69 | 0.37 |
| Only index persons | 1.42 | 1.66 | 0.39 |
| Median age at first event (years) | |||
| Whole population | 72.51 | 73.24 | 69.20 |
| Only index persons | 70.78 | 71.59 | 67.15 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 6684 | 4896 | 1788 |
| Unadjusted period prevalence (%) | 1.65 | 1.92 | 0.90 |
| Median age at first event (years) | 64.89 | 64.26 | 66.60 |
-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 E4_HYPERPARA and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_HYPERPARA | 1.394 [1.3, 1.49] | < 0.001 |
| Birth year | 0.997 [0.99, 1.0] | 0.451 |
During the follow-up period (1.1.1998 — 31.12.2019), 23668 out of 43589 females with E4_HYPERPARA died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_HYPERPARA | 1.775 [1.62, 1.95] | < 0.001 |
| Birth year | 0.986 [0.98, 1.0] | 0.003 |
During the follow-up period (1.1.1998 — 31.12.2019), 5631 out of 10464 males with E4_HYPERPARA died.
Mortality risk
Mortality risk for people of age
years, who have E4_HYPERPARA.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.159% | 0.343% |
| 5 | 0.985% | 1.938% |
| 10 | 2.335% | 4.821% |
| 15 | 4.28% | 9.124% |
| 20 | 7.325% | 15.31% |
Relationships between endpoints
↥Index endpoint: E4_HYPERPARA – Hyperparathyroidism
GWS hits: 9
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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