Finnish heritage disease
A Finnish heritage disease is a genetic disease or disorder that is significantly more common in people whose ancestors were ethnic
Within
In Finland about one in five persons carries a gene defect associated with at least one Finnish heritage disease, and about one in 500 children born is affected.
Finnish heritage disease types
There are 36 identified Finnish heritage diseases:[6][7]
- Amyloidosis, Finnish type
- Lethal arthrogryposis with anterior horn cell disease
- Aspartylglucosaminuria
- Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia
- Cartilage–hair hypoplasia
- Ceroid lipofuscinosis, neuronal, 1
- Ceroid lipofuscinosis, neuronal, 3
- Ceroid lipofuscinosis, neuronal, 5
- Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (Synonyms: Northern epilepsy; Epilepsy, progressive, with intellectual disability)
- Choroideremia
- Cohen syndrome
- Cornea plana 2
- Diarrhea 1, secretory chloride, congenital
- Diastrophic dysplasia
- Epilepsy, progressive myoclonic 1A (Unverricht–Lundborg)
- Glycine encephalopathy (Nonketotic hyperglycinemia)
- GRACILE syndrome
- Gyrate atrophy of choroid and retina
- Hydrolethalus syndrome 1
- Infantile-onset spinocerebellar ataxia (Mitochondrial DNA depletion syndrome 7)
- Lactase deficiency, congenital
- Lethal congenital contracture syndrome 1
- Lysinuric protein intolerance
- Meckel syndrome
- Megaloblastic anemia-1, Finnish and Norwegian type
- Mulibrey nanism
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
- Nephrotic syndrome, type 1 (Finnish congenital nephrosis)
- Ovarian dysgenesis1
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (Nasu–Hakola disease)
- Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy
- RAPADILINO syndrome
- Retinoschisis 1, X-linked, juvenile
- Sialuria, Finnish type (Salla disease)
- Tibial muscular dystrophy, tardive
- Usher syndrome, type 3A
Out of these, three are rare causes of dwarfism: cartilage–hair hypoplasia, diastrophic dysplasia and Mulibrey nanism.
Four genetically distinct subtypes of
Other genetic diseases
The
Some genetic diseases are disproportionately rare in Finns. These include cystic fibrosis and phenylketonuria. In Finland, about 1 in 80 persons are carriers of a cystic fibrosis mutation, compared with an average of 1 in 25 elsewhere in Europe.[12]
Genetic history
Based on molecular data, a population bottleneck among ancestors of modern Finns is estimated to have occurred about 4000 years ago.[3] This bottleneck resulted in exceptionally low diversity in the Y chromosome, estimated to reflect the survival of just two ancestral male lineages.[13][14] The distribution of Y chromosome haplotypes within Finland is consistent with two separate founding settlements, in eastern and western Finland.[15] The Finnish disease heritage has been attributed to this 4000-year-old bottleneck.[3] The geographic distribution and family pedigrees associated with some Finnish heritage disease mutations has linked the enrichment in these mutations to multiple local founder effects, some associated with a period of "late settlement" in the 16th century (see History of Finland).[16]
Etymology
Although the concept is older, the English term "Finnish disease heritage" first appears in the medical literature in the 1990s. One of the earliest uses is in the translated title of a 1994 medical article,[17] soon followed by others.[3][18]
See also
- Leena Peltonen-Palotie
- Nine diseases
- Population genetics
- BCG disease outbreak in Finland in the 2000s
- Medical genetics of Ashkenazi Jews
- Finnish Association on Intellectual and Developmental Disabilities (FAIDD)
- Finno-Ugrian suicide hypothesis
References
- S2CID 26741302.
- PMID 19367325.
- ^ PMID 8876258.
- S2CID 22368642.
- ISBN 0-415-35407-2.
- ^ "The Finnish Disease Heritage". FinDis. Archived from the original on 13 January 2017. Retrieved 4 March 2018.
- ^ "Diseases". FinDis. Retrieved 4 March 2018.
- ^ ISBN 0-12-017645-9. page 125
- S2CID 11815792.
- PMID 6486167.
- ^ "Rare Diseases: Understanding This Public Health Priority" (PDF). European Organisation for Rare Diseases (EURORDIS). November 2005. Retrieved 16 May 2009.
- PMID 11813900.
- PMID 10229384.
- PMID 10352935.
- PMID 9545401.
- PMID 10469845.
- PMID 8542820.
- S2CID 29999767.