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Genome-wide meta-analysis of common variant differences between men and women


The authors carried out a large-scale genome-wide meta-analysis across 51 studies including several ENGAGE cohorts, to assess the potential differences between men and women in the frequency of common variants. The study material comprised overall 114,863 individuals (61,094 women and 53,769 men) of European ancestry. The rationale behind the comparison was based on the fact that the male-to-female sex ratio at birth is constant across world with an average of 1.06 (106 male to 100 female live births) for populations of European descent. Numerous biological and environmental factors are likely to be responsible for this ratio distortion, including incompatibility between autosomal and sex chromosome variants leading to differential survival of male and female embryos. The aim of the present study was to test if also genetic factors are implicated in this phenomenon. No genome-wide significant allele frequency differences were found at common loci between men and women indicating that sex-specific selection against particular genetic variants is not a plausible explanation for the observed male-to-female sex ratio at birth. These findings were further supported by the theoretical forward-time simulations. The absence of sex-specific differences is useful in guiding genetic association study design, for example when using mixed controls for sex-biased traits (e.g. prostate cancer in men or anorexia nervosa in women).


Genome-wide meta-analysis of common variant differences between men and women Boraska V, Jeroncic A, Colonna V, Southam L, Nyholt DR, William Rayner N, Perry JR, Toniolo D, Albrecht E, Ang W, Bandinelli S, Barbalic M, Barroso I, Beckmann JS, Biffar R, Boomsma D, Campbell H, Corre T, Erdmann J, Esko T, Fischer K, Franceschini N, Frayling TM, Girotto G, Gonzalez JR, Harris TB, Heath AC, Heid IM, Hoffmann W, Hofman A, Horikoshi M, Hua Zhao J, Jackson AU, Hottenga JJ, Jula A, Kähönen M, Khaw KT, Kiemeney LA, Klopp N, Kutalik Z, Lagou V, Launer LJ, Lehtimäki T, Lemire M, Lokki ML, Loley C, Luan J, Mangino M, Mateo Leach I, Medland SE, Mihailov E, Montgomery GW, Navis G, Newnham J, Nieminen MS, Palotie A, Panoutsopoulou K, Peters A, Pirastu N, Polasek O, Rehnström K, Ripatti S, Ritchie GR, Rivadeneira F, Robino A, Samani NJ, Shin SY, Sinisalo J, Smit JH, Soranzo N, Stolk L, Swinkels DW, Tanaka T, Teumer A, Tönjes A, Traglia M, Tuomilehto J, Valsesia A, van Gilst WH, van Meurs JB, Smith AV, Viikari J, Vink JM, Waeber G, Warrington NM, Widen E, Willemsen G, Wright AF, Zanke BW, Zgaga L; Wellcome Trust Case Control Consortium (WTCCC), Boehnke M, d'Adamo AP, de Geus E, Demerath EW, den Heijer M, Eriksson JG, Ferrucci L, Gieger C, Gudnason V, Hayward C, Hengstenberg C, Hudson TJ, Järvelin MR, Kogevinas M, Loos RJ, Martin NG, Metspalu A, Pennell CE, Penninx BW, Perola M, Raitakari O, Salomaa V, Schreiber S, Schunkert H, Spector TD, Stumvoll M, Uitterlinden AG, Ulivi S, van der Harst P, Vollenweider P, Völzke H, Wareham NJ, Wichmann HE, Wilson JF, Rudan I, Xue Y, Zeggini E. Hum Mol Genet 2012. PMID: 22843499



Summer 2012
ENGAGE Young Investigator

veryan Vesna Boraska is a visiting scientist in the Eleftheria Zeggini's research group at the Wellcome Trust Sanger Institute (Partner 24), where she led the work summarized here.

Vesna’s scientific interests reside in the area of genetic analyses of complex traits and diseases. Her recent work includes genome-wide association studies of brachial circumference and eating disorder-related phenotypes (Boraska et al. Am J Med Genet B Neuropsychiatr Genet 2012; Boraska et al. PLoS ONE 2012). Currently, she is the primary analyst for the Wellcome Trust Case Control Consortium 3 analysis of anorexia nervosa.