title: Common and low-frequency variants associated with genome-wide recombination rate.
abstract: Meiotic recombination contributes to genetic diversity by yielding new combinations of alleles. Individuals vary with respect to the genome-wide recombination counts in their gametes. Exploiting data resources in Iceland, we compiled a data set consisting of 35,927 distinct parents and 71,929 parent-offspring pairs. Within this data set, we called over 2.2 million recombination events and imputed variants with sequence-level resolution from 2,261 whole genome-sequenced individuals into the parents to search for variants influencing recombination rate. We identified 13 variants in 8 regions that are associated with genome-wide recombination rate, 8 of which were previously unknown. Three of these variants associate with male recombination rate only, seven variants associate with female recombination rate only and three variants affect both. Two are low-frequency variants with large effects, one of which is estimated to increase the male and female genetic maps by 111 and 416 cM, respectively. This variant, located in an intron, would not be found by exome sequencing.
authors.affiliation: 1] deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. [2] Faculty of Physical Sciences, School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland.
authors.forename: Augustine
authors.initials: A
authors.lastname: Kong
authors.affiliation: deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
authors.forename: Gudmar
authors.initials: G
authors.lastname: Thorleifsson
authors.affiliation: deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
authors.forename: Michael L
authors.identifier: 000000032984535X
authors.initials: ML
authors.lastname: Frigge
authors.affiliation: deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
authors.forename: Gisli
authors.initials: G
authors.lastname: Masson
authors.affiliation: 1] deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. [2] Faculty of Physical Sciences, School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland.
authors.forename: Daniel F
authors.initials: DF
authors.lastname: Gudbjartsson
authors.affiliation: deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
authors.forename: Rasmus
authors.initials: R
authors.lastname: Villemoes
authors.affiliation: Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
authors.forename: Erna
authors.initials: E
authors.lastname: Magnusdottir
authors.affiliation: deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
authors.forename: Stefania B
authors.initials: SB
authors.lastname: Olafsdottir
authors.affiliation: 1] deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. [2] Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
authors.forename: Unnur
authors.initials: U
authors.lastname: Thorsteinsdottir
authors.affiliation: 1] deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. [2] Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
authors.forename: Kari
authors.initials: K
authors.lastname: Stefansson
mesh_terms: D007446:Chromosome Inversion; D002886:Chromosomes, Human, Pair 17; D002894:Chromosomes, Human, Pair 4; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D015894:Genome, Human; D011495:Histone-Lysine N-Methyltransferase / Q000235:genetics; D006801:Humans; D007055:Iceland; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011995:Recombination, Genetic; D016615:Telomere / Q000235:genetics
chemical_list: D011495:Histone-Lysine N-Methyltransferase; C544431:PRDM9 protein, human