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Following the footprints of polymorphic inversions on SNP data : from detection to association tests
Cáceres, Alejandro (Centre de Recerca en Epidemiologia Ambiental (Barcelona))
González, Juan R. (Universitat Autonoma de Barcelona. Departament de Matemàtiques)

Date: 2015
Abstract: Inversion polymorphisms have important phenotypic and evolutionary consequences in humans. Two different methodologies have been used to infer inversions from SNP dense data, enabling the use of large cohorts for their study. One approach relies on the differences in linkage disequilibrium across breakpoints; the other one captures the internal haplotype groups that tag the inversion status of chromosomes. In this article, we assessed the convergence of the two methods in the detection of 20 human inversions that have been reported in the literature. The methods converged in four inversions including inv-8p23, for which we studied its association with low-BMI in American children. Using a novel haplotype tagging method with control on inversion ancestry, we computed the frequency of inv-8p23 in two American cohorts and observed inversion haplotype admixture. Accounting for haplotype ancestry, we found that the European inverted allele in children carries a recessive risk of underweight, validated in an independent Spanish cohort (combined: OR= 2. 00, P = 0. 001). While the footprints of inversions on SNP data are complex, we show that systematic analyses, such as convergence of different methods and controlling for ancestry, can reveal the contribution of inversions to the ancestral composition of populations and to the heritability of human disease.
Note: Número d'acord de subvenció EC/FP7/201413
Note: Número d'acord de subvenció MICINN/MTM2011-26515
Note: Número d'acord de subvenció MICINN/MTM2010-09526-E
Note: Número d'acord de subvenció MICINN/SAF2008-00357
Note: Número d'acord de subvenció ISCIII/CB06/02/0041
Note: Número d'acord de subvenció ISCIII/FIS PI041436
Note: Número d'acord de subvenció ISCIII/PI081151
Note: Número d'acord de subvenció ISCIII/PI041705
Note: Número d'acord de subvenció ISCIII/PS09/00432
Note: Número d'acord de subvenció AGAUR/1999SGR 00241
Rights: Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. Creative Commons
Language: Anglès.
Document: article ; recerca ; publishedVersion
Subject: Computational methods ; Genomics
Published in: Nucleic acids research, Vol. 43, issue 8 (April 2015) , e53, ISSN 1362-4962

PMID: 25672393
DOI: 10.1093/nar/gkv073

11 p, 3.5 MB

The record appears in these collections:
Articles > Research articles
Articles > Published articles

 Record created 2018-01-31, last modified 2018-11-14

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