Finnish Disease Heritage II: population prehistory and genetic roots of Finns

Norio, Reijo

doi:10.1007/s00439-002-0876-2

Cited by 80 publications

(37 citation statements)

References 34 publications

(50 reference statements)

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“…The thick broken line represents the most evident mortality difference, which roughly corresponds with the first national boundary between Sweden-Finland and Russia in 1323. A similar divide has been observed in terms of anthropology, folklore, and dialects [11]. …”

Section: Methodssupporting

confidence: 70%

Family origin and mortality: prospective Finnish cohort study

Saarela

Finnäs

2011

BMC Public Health

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BackgroundDeath rates are notably higher in eastern Finland than in western Finland, and life expectancy of Finnish speakers shorter than that of Swedish speakers. The mortality differences correspond to recent genetic mappings of the population and are prominent for causes of death that are known to be associated with genetic risk factors.MethodsUsing intergenerational data, we studied the impact of parental birth area on all-cause mortality risks of middle-aged men in Finland 1985-2003, assuming that geographic family origin reflects genetic predisposition to complex disorders. Relative death risks at ages 30-49 years were estimated by parental birth region and ethnicity, according to Cox regressions standardised for own education, family type at childhood, and year of birth.ResultsThe death risk of Finnish speakers born in eastern Finland was 1.13 (95% confidence interval 1.01 to 1.26) that of Finnish speakers born in western Finland, whereas that of Swedish speakers was only 0.60 (0.52 to 0.71). In Finnish speakers, the effects of own birth area and area of residence disappeared when parental birth area was accounted for. The death risk of persons with at least one parent born in eastern Finland was 1.23 (1.09 to 1.39) that of people with both parents born in western Finland.ConclusionsParental birth area is the driving force behind the regional mortality difference in Finland. The findings highlight and give further support for the potentially important role of genetic risk factors in mortality. Close monitoring of persons' geographic and ethnic ancestry may promote public health and avoid many early deaths.

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Section: Methodssupporting

confidence: 70%

Family origin and mortality: prospective Finnish cohort study

Saarela

Finnäs

2011

BMC Public Health

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“…They are likely caused by population history: the young age of the population, founder and bottleneck effects, and substantial genetic drift attributable to small population size. The settlement of Eastern Finland from the province of South Savo beginning in the 16th century led to serial founder effects, and genetic drift remained strong in the small and isolated breeding units during the following centuries [17], [18]. These local processes were also reflected in the regional MDS clustering of individuals within Eastern and Western Finland.…”

Section: Discussionmentioning

confidence: 99%

Genome-Wide Analysis of Single Nucleotide Polymorphisms Uncovers Population Structure in Northern Europe

et al. 2008

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BackgroundGenome-wide data provide a powerful tool for inferring patterns of genetic variation and structure of human populations.Principal FindingsIn this study, we analysed almost 250,000 SNPs from a total of 945 samples from Eastern and Western Finland, Sweden, Northern Germany and Great Britain complemented with HapMap data. Small but statistically significant differences were observed between the European populations (FST = 0.0040, p<10−4), also between Eastern and Western Finland (FST = 0.0032, p<10−3). The latter indicated the existence of a relatively strong autosomal substructure within the country, similar to that observed earlier with smaller numbers of markers. The Germans and British were less differentiated than the Swedes, Western Finns and especially the Eastern Finns who also showed other signs of genetic drift. This is likely caused by the later founding of the northern populations, together with subsequent founder and bottleneck effects, and a smaller population size. Furthermore, our data suggest a small eastern contribution among the Finns, consistent with the historical and linguistic background of the population.SignificanceOur results warn against a priori assumptions of homogeneity among Finns and other seemingly isolated populations. Thus, in association studies in such populations, additional caution for population structure may be necessary. Our results illustrate that population history is often important for patterns of genetic variation, and that the analysis of hundreds of thousands of SNPs provides high resolution also for population genetics.

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“…The advantages of a family-based setting used here over population-based include better control of population stratification, enrichment of rare variants and the ability to discriminate variants co-segregating with the trait [33], [34]. High mutation rate is resulting in a large number of de novo variations [23].…”

Section: Introductionmentioning

confidence: 99%

Genome-Wide Copy Number Variation Analysis in Extended Families and Unrelated Individuals Characterized for Musical Aptitude and Creativity in Music

et al. 2013

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Music perception and practice represent complex cognitive functions of the human brain. Recently, evidence for the molecular genetic background of music related phenotypes has been obtained. In order to further elucidate the molecular background of musical phenotypes we analyzed genome wide copy number variations (CNVs) in five extended pedigrees and in 172 unrelated subjects characterized for musical aptitude and creative functions in music. Musical aptitude was defined by combination of the scores of three music tests (COMB scores): auditory structuring ability, Seashores test for pitch and for time. Data on creativity in music (herein composing, improvising and/or arranging music) was surveyed using a web-based questionnaire.Several CNVRs containing genes that affect neurodevelopment, learning and memory were detected. A deletion at 5q31.1 covering the protocadherin-α gene cluster (Pcdha 1-9) was found co-segregating with low music test scores (COMB) in both sample sets. Pcdha is involved in neural migration, differentiation and synaptogenesis. Creativity in music was found to co-segregate with a duplication covering glucose mutarotase gene (GALM) at 2p22. GALM has influence on serotonin release and membrane trafficking of the human serotonin transporter. Interestingly, genes related to serotonergic systems have been shown to associate not only with psychiatric disorders but also with creativity and music perception. Both, Pcdha and GALM, are related to the serotonergic systems influencing cognitive and motor functions, important for music perception and practice. Finally, a 1.3 Mb duplication was identified in a subject with low COMB scores in the region previously linked with absolute pitch (AP) at 8q24. No differences in the CNV burden was detected among the high/low music test scores or creative/non-creative groups. In summary, CNVs and genes found in this study are related to cognitive functions. Our result suggests new candidate genes for music perception related traits and supports the previous results from AP study.

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Finnish Disease Heritage II: population prehistory and genetic roots of Finns

Cited by 80 publications

References 34 publications

Family origin and mortality: prospective Finnish cohort study

Family origin and mortality: prospective Finnish cohort study

Genome-Wide Analysis of Single Nucleotide Polymorphisms Uncovers Population Structure in Northern Europe

Genome-Wide Copy Number Variation Analysis in Extended Families and Unrelated Individuals Characterized for Musical Aptitude and Creativity in Music

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