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Sökning: onr:"swepub:oai:lup.lub.lu.se:52a25479-cf58-4122-903e-9818bf6cd178" > Runs of homozygosit...

Runs of homozygosity and inbreeding in thyroid cancer

Thomsen, Hauke, (författare)
Forskargrupper vid Lunds universitet, Lund University Research Groups, Lunds universitet, Lund University, Genetisk och molekylär epidemiologi, Genetic and Molecular Epidemiology, German Cancer Research Centre
Chen, Bowang, (författare)
Forskargrupper vid Lunds universitet, Lund University Research Groups, Lunds universitet, Lund University, Genetisk och molekylär epidemiologi, Genetic and Molecular Epidemiology, German Cancer Research Centre
Figlioli, Gisella, (författare)
University of Pisa
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Elisei, Rossella, (författare)
University of Pisa
Romei, Cristina, (författare)
University of Pisa
Cipollini, Monica, (författare)
University of Pisa
Cristaudo, Alfonso, (författare)
University of Pisa
Bambi, Franco, (författare)
Meyer Children's Hospital
Hoffmann, Per, (författare)
University Hospital Basel
Herms, Stefan, (författare)
University Hospital Basel
Landi, Stefano, (författare)
University of Pisa
Hemminki, Kari, (författare)
Forskargrupper vid Lunds universitet, Lund University Research Groups, Lunds universitet, Lund University, Genetisk och molekylär epidemiologi, Genetic and Molecular Epidemiology, Center for Primary Health Care Research, German Cancer Research Centre
Gemignani, Federica, (författare)
University of Pisa
Försti, Asta, (författare)
Forskargrupper vid Lunds universitet, Lund University Research Groups, Lunds universitet, Lund University, Genetisk och molekylär epidemiologi, Genetic and Molecular Epidemiology, German Cancer Research Centre, Center for Primary Health Care Research
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2016
Engelska.
Ingår i: BMC Cancer. - BioMed Central (BMC). - 1471-2407. ; 16:1
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
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  • Background: Genome-wide association studies (GWASs) have identified several single-nucleotide polymorphisms (SNPs) influencing the risk of thyroid cancer (TC). Most cancer predisposition genes identified through GWASs function in a co-dominant manner, and studies have not found evidence for recessively functioning disease loci in TC. Our study examines whether homozygosity is associated with an increased risk of TC and searches for novel recessively acting disease loci. Methods: Data from a previously conducted GWAS were used for the estimation of the proportion of phenotypic variance explained by all common SNPs, the detection of runs of homozygosity (ROH) and the determination of inbreeding to unravel their influence on TC. Results: Inbreeding coefficients were significantly higher among cases than controls. Association on a SNP-by-SNP basis was controlled by using the false discovery rate at a level of q* < 0.05, with 34 SNPs representing true differences in homozygosity between cases and controls. The average size, the number and total length of ROHs per person were significantly higher in cases than in controls. A total of 16 recurrent ROHs of rather short length were identified although their association with TC risk was not significant at a genome-wide level. Several recurrent ROHs harbor genes associated with risk of TC. All of the ROHs showed significant evidence for natural selection (iHS, Fst, Fay and Wu's H). Conclusions: Our results support the existence of recessive alleles in TC susceptibility. Although regions of homozygosity were rather small, it might be possible that variants within these ROHs affect TC risk and may function in a recessive manner.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

Nyckelord

GWAS
Inbreeding
Runs of homozygosity
Thyroid cancer

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