Finnish

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 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