Scientific Highlights

The 1000 Genomes Project Releases Data from Pilot Studies

riitta.alatalo@fimm.fi (Riitta Alatalo) — Wed, 21 Jul 2010 21:00:00 +0000

The 1000 Genomes Project announced the release of its three proof of concept pilot studies whose success paves the way for the sequencing of 2,500 human genomes. The 1000 Genomes Project is an international public-private consortium that aims to build the most comprehensive map of human genetic variation to date. The amount of data generated by the Project is unprecedented in biomedical research and all data will be publicly available to researchers worldwide via an easily accessible database. The genetic map will allow researchers to study the human genome more deeply in order to understand the genetic contribution to human diseases.

Of the 2,500 human genomes to be sequenced, 100 are Finns that have been recruited by FIMM. The 100 Finnish genomes will give more insight into the distinct characteristics of the Finnish population, which have been recently studied at FIMM as part of The Finnish Gene Atlas project. In addition, rare variants identified in the Finnish genomes will assist researchers in ascertaining disease-causing genetic factors in Finnish samples. The Finnish participation in the project was initiated by the late Academician Leena Peltonen-Palotie and is currently headed by Professor Aarno Palotie of The Wellcome Trust Sanger Institute (WTSI) and FIMM. Before leaving to WTSI for her postdoc, Dr. Karola Rehnström collected the Finnish samples at FIMM.

Growth Curve Analyses of Finnish Population Cohorts Shed Light on the Complex Genetic ...

riitta.alatalo@fimm.fi (Riitta Alatalo) — Thu, 15 Apr 2010 21:00:00 +0000

Researchers at the University of Helsinki, Finland, have shown that a gene called LIN28B strongly influences height growth from birth to adulthood in a complex and sex-spesific manner.

Growth Curve Analyses of Finnish Population Cohorts Shed Light on the Complex Genetic Regulation of Growth in Height

Human growth in height is a multifaceted process including periods of accelerated and decelerated growth velocities. The postnatal growth trajectory can be conceptualized as consisting of three partially overlapping phases: infant growth characterized by rapidly declining growth velocities, slowly decelerating childhood growth, and the pubertal height growth spurt.
Height is strongly regulated by genes, and so far more than 40 genes have been implicated influencing adult height. Yet, little is known about how individual genes regulate growth in height.

Utilizing the unique resource of longitudinal childhood height growth data available in Finnish population cohorts, researchers at the University of Helsinki and the Institute for Molecular Medicine Finland (FIMM) have pinpointed broad height growth regulating effects to a gene called LIN28B. The same gene is known to be a key regulator of developmental timing in the nematode C. elegans and has previously been associated both with timing of menarche and adult height in humans.

Applying genome-wide association mapping technology, the researchers have now shown that the gene strongly influences the timing of the pubertal height growth spurt both in males and females but they also found that it regulates height growth from birth to adulthood in a complex and sex-specific manner.
“Interestingly; two separate variants of the gene were found to influence growth, one with a more prominent height increasing effect in males and another one increasing height only in females”, tells Academy Research Fellow, Dr. Elisabeth Widén.

For further information, please contact:

Dr. Elisabeth Widén, Institute for Molecular Medicine Finland (FIMM), University of Helsinki
Tel. +358 50 3812738
E-mail: Elisabeth.widen@helsinki.fi

Reference: Widén & al. Distinct Variants at LIN28B Influence Growth in Height from Birth to Adulthood. American Journal of Human Genetics, 15 April, 2010 (on line).

The new Finnish Gene Atlas places Finns on the world’s genetic map

anne.k.leinonen@fimm.fi (Anne Leinonen) — Tue, 16 Mar 2010 22:00:00 +0000

The Institute for Molecular Medicine Finland (FIMM) together with its collaborators has compiled the Finnish Gene Atlas, which contains genome-wide gene marker data for more than 40,000 Finns. The first findings obtained with this collection, which is exceptionally extensive for Europe, pertain to determination of the origin of Finns.

Hundreds of thousands of gene markers make it possible to examine similarities in the genetic architecture of Finns and other European peoples. Use of the Atlas has revealed, for instance, that:

Finns are unique on the genetic map of Europe; we differ considerably both from Central Europeans and from our neighbours to the east.

Genetically, Finns have more in common with, for example, the Dutch or Russians living in the area of Murom, to the east of Moscow, than with our linguistic relations, the Hungarians; genetic closeness clearly follows geographic distance more closely than linguistic distance.

Owing to our settlement history, the genetic differences among Finns are great on both the east/west and north/south axes; the greater the geographic distance is, the greater the genetic differences are. In comparing the Finnish dialect areas, the greatest genetic differences are found between Finns of Southwest Finland and inhabitants of Kuusamo in Northeast Finland.

The linguistic link between Swedish-speaking Finns living in coastal areas and Swedes is also reflected in the greater genetic closeness of these two groups in comparison with Finnish speakers.

During 2010 the Finnish Gene Atlas will be supplemented with the first Finns whose whole genome will be fully sequenced.

Additional information: Senior Researcher Samuli Ripatti, Institute for Molecular Medicine Finland FIMM, tel. 020 610 8159 or samuli.ripatti@fimm.fi

GeneSapiens - a catalogue of expression of all human genes

anne.k.leinonen@fimm.fi (Anne Leinonen) — Mon, 22 Jun 2009 21:00:00 +0000

PhD student Sami Kilpinen, M.Sc., and coworkers at FIMM, VTT, Tampere Technical University and University of Helsinki formed a large consortium to develop a major new resource allowing researchers to rapidly and easily explore levels of expression of any human gene across 43 normal tissues, 68 cancer types and 64 other diseases. The resource - GeneSapiens - collates data from microarray expression analysis of clinical samples from numerous public sources and currently contains over 130 million data points. Available for free at www.genesapiens.org it enables to explore the diagnostic and therapeutic potential of genes.

GeneSapiens has become a widely-used resource for the international scientific community.

Kilpinen S, Autio R, Ojala K, Iljin K, Bucher E, Sara H, Pisto T, Saarela M, Skotheim RI, Björkman M, Mpindi JP, Haapa-Paananen S, Vainio P, Edgren H, Wolf M, Astola J, Nees M, Hautaniemi S, Kallioniemi O. Systematic bioinformatic analysis of expression levels of 17,330 human genes across 9,783 samples from 175 types of healthy and pathological tissues, Genome Biol. 2008; 9(9):R139. doi:10.1186/gb-2008-9-9-r139

Population cohort study finds six genetic variants associated with 'bad' cholesterol (in Finnish)

webmaster@www.fimm.fi (admin) — Sun, 26 Apr 2009 21:00:00 +0000

Suomalaiset väestöaineistot ja uudet perimän analyysimenetelmät paljastavat kansantautien syitä kolmessa laajassa tutkimuksessa

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