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Pregled bibliografske jedinice broj: 604172

Časopis

Autori: McQuillan, Ruth; Boban, Mladen; Boraska, Vesna; ...; Polašek, Ozren; Kolčić, Ivana; Zemunik, Tatijana; Pehlić, Marina; Rudan, Igor; Visscher, P.M.; Wilson, James
Naslov: Evidence of inbreeding depression on human height
( Evidence of inbreeding depression on human height )
Izvornik: Plos genetics (1553-7390) 8 (2012); e1002655-1-e1002655-
Vrsta rada: članak
Ključne riječi: inbreeding; height; runs of homozygosity
( inbreeding; height; runs of homozygosity )
Sažetak:
Stature is a classical and highly heritable complex trait, with 80%-90% of variation explained by genetic factors. In recent years, genome-wide association studies (GWAS) have successfully identified many common additive variants influencing human height ; however, little attention has been given to the potential role of recessive genetic effects. Here, we investigated genome-wide recessive effects by an analysis of inbreeding depression on adult height in over 35, 000 people from 21 different population samples. We found a highly significant inverse association between height and genome-wide homozygosity, equivalent to a height reduction of up to 3 cm in the offspring of first cousins compared with the offspring of unrelated individuals, an effect which remained after controlling for the effects of socio-economic status, an important confounder (χ(2) = 83.89, df = 1 ; p = 5.2 × 10(-20)). There was, however, a high degree of heterogeneity among populations: whereas the direction of the effect was consistent across most population samples, the effect size differed significantly among populations. It is likely that this reflects true biological heterogeneity: whether or not an effect can be observed will depend on both the variance in homozygosity in the population and the chance inheritance of individual recessive genotypes. These results predict that multiple, rare, recessive variants influence human height. Although this exploratory work focuses on height alone, the methodology developed is generally applicable to heritable quantitative traits (QT), paving the way for an investigation into inbreeding effects, and therefore genetic architecture, on a range of QT of biomedical importance.
Projekt / tema: 216-1080315-0302, HRZZ-PD-02.03/68
Izvorni jezik: eng
Rad je indeksiran u
bazama podataka:
Current Contents Connect (CCC)
MEDLINE
Scopus
SCI-EXP, SSCI i/ili A&HCI
Kategorija: Znanstveni
Znanstvena područja:
Temeljne medicinske znanosti,Javno zdravstvo i zdravstvena zaštita
URL Internet adrese: http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1002655
Broj citata:
Altmetric:
DOI: 10.1371/journal.pgen.1002655
URL cjelovitog teksta:
Google Scholar: Evidence of inbreeding depression on human height
Upisao u CROSBI: opolasek@mefst.hr (opolasek@mefst.hr), 20. Stu. 2012. u 16:41 sati
Napomene:
ROHgen Consortium.



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