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Genetic studies often focus on the population of Finland. Some inherited diseases, such as cystic fibrosis and phenylketonuria, are almost never found in this population; at least 36 others are found primarily (or most commonly) among people of Finnish ancestry. Finnish disease database

  • aspartylglucosaminuria NIH
  • cartilage-hair hypoplasia NIH
  • choroiderimia NIH
  • Cohen syndrome NIH
  • congenital chloride diarrhea NIH
  • congenital lactase deficiency [PMID 19432082]
  • congenital nephrosis, Finnish type (ABCC8-related)
  • cornea plana congenita review
  • diastrophic dysplasia NIH
  • epilepsy, progressive myoclonus type and progressive type with mental retardation
  • familial amyloidosis, Finnish type
  • Fellman syndrome (also known as GRACILE syndrome)
  • FSH-resistant ovaries
  • hydrolethalis syndrome OMIM
  • infant onset spinocerebellar ataxia (IOSCA syndrome) NIH
  • juvenile neuronal ceroid lipofuscinosis NIH
  • lethal congenital contracture syndrome (LCCS) [PMID 16892327]
  • lysinuric protein intolerance NIH
  • Meckel syndrome Wikipedia
  • mulibrey nanism NIH
  • muscle-eye-brain disease
  • nonketotic hyperglycinemia
  • polycystic kidney disease (some forms)
  • retinoschisis
  • Salla disease (also called sialic acid storage disease)
  • tibial muscular dystrophy NIH
  • selective malabsorption of vitamin B12
  • Usher syndrome type 3

GWAS genome-wide association studies with Finnish cohorts

[PMID 25109461] Genome-wide association study of sleep duration in the Finnish population.

[PMID 25023141] Genome-Wide Analysis of the Heritability of Amyotrophic Lateral Sclerosis.

[PMID 24665129OA-icon.png] Assessing multivariate gene-metabolome associations with rare variants using Bayesian reduced rank regression.

[PMID 24497850OA-icon.png] Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.

[PMID 24497844OA-icon.png] High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms.

[PMID 24340086OA-icon.png] Utilizing twins as controls for non-twin case-materials in genome wide association studies.

[PMID 23967248OA-icon.png] Copy number variation analysis in familial BRCA1/2-negative Finnish breast and ovarian cancer.

[PMID 23940718OA-icon.png] Properties of local interactions and their potential value in complementing genome-wide association studies.

[PMID 23752247] Genome-wide association study on detailed profiles of smoking behavior and nicotine dependence in a twin sample.

[PMID 23738515OA-icon.png] Characterization of uterine leiomyomas by whole-genome sequencing.

[PMID 23704328OA-icon.png] Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.

[PMID 23052944OA-icon.png] Identity-by-descent-based heritability analysis in the Northern Finland Birth Cohort.

[PMID 22902788OA-icon.png] A mixed-model approach for genome-wide association studies of correlated traits in structured populations.

[PMID 22567092OA-icon.png] MultiPhen: joint model of multiple phenotypes can increase discovery in GWAS.

[PMID 22363459OA-icon.png] DISC1 conditioned GWAS for psychosis proneness in a large Finnish birth cohort.

[PMID 22156771OA-icon.png] Detailed metabolic and genetic characterization reveals new associations for 30 known lipid loci.

[PMID 20971364OA-icon.png] A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.

[PMID 20159113OA-icon.png] Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.

[PMID 20068591OA-icon.png] A genome-wide association study for age-related hearing impairment in the Saami.

[PMID 19851985] Identification of susceptibility loci at 7q31 and 9p13 for bipolar disorder in an isolated population.

[PMID 19060910] Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

Finnish sample collections and cohorts

Epidemiological and Clinical Finnish Sample Collections

- Finnish sample Collections, overview: http://www.nationalbiobanks.fi/

Northern Finnish Birth Cohort NFBC (1966 & 1986)

- Overview of the NFBC at the University of Oulu pages: http://www.oulu.fi/nfbc/

- Overview of the NFBC at the Finnish Sample Collections pages: http://www.nationalbiobanks.fi/index.php/studies2/11-nfbc

Finnish Twin cohort

- Overview of the Twin cohort at the Finnish Sample Collections pages: http://www.nationalbiobanks.fi/index.php/studies2/30-finnish-twin-cohort

- Twinstudy at the University of Helsinki pages: http://wiki.helsinki.fi/display/twineng/Twinstudy

- Twinstudy publication list: http://wiki.helsinki.fi/display/twineng/Publications+list

Sequencing Initiative Suomi SISu Project

- SISu Overview: http://www.sisuproject.fi/

- SISu Search: http://www.sisuproject.fi/search