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)
- 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 24665129] Assessing multivariate gene-metabolome associations with rare variants using Bayesian reduced rank regression.
[PMID 24497850] Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.
[PMID 24497844] High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms.
[PMID 24340086] Utilizing twins as controls for non-twin case-materials in genome wide association studies.
[PMID 23967248] Copy number variation analysis in familial BRCA1/2-negative Finnish breast and ovarian cancer.
[PMID 23940718] 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 23738515] Characterization of uterine leiomyomas by whole-genome sequencing.
[PMID 23704328] Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
[PMID 23052944] Identity-by-descent-based heritability analysis in the Northern Finland Birth Cohort.
[PMID 22902788] A mixed-model approach for genome-wide association studies of correlated traits in structured populations.
[PMID 22567092] MultiPhen: joint model of multiple phenotypes can increase discovery in GWAS.
[PMID 22363459] DISC1 conditioned GWAS for psychosis proneness in a large Finnish birth cohort.
[PMID 22156771] Detailed metabolic and genetic characterization reveals new associations for 30 known lipid loci.
[PMID 20971364] A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.
[PMID 20159113] Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.
[PMID 20068591] 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