Genome-wide association studies

Genome-wide association studies (GWASs) are unbiased genome screens of unrelated individuals and appropriately matched controls or parent-affected child trios to establish whether any genetic variant is associated with a trait. These studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and major diseases.

Latest Research and Reviews

  • Research |

    The study reports a genome-wide significant locus for cannabis use disorder, replicating in an independent cohort, and implicates CHRNA2, which encodes an acetylcholine receptor subunit, in the disorder by analyses of genetically regulated gene expression.

    • Ditte Demontis
    • , Veera Manikandan Rajagopal
    • , Thorgeir E. Thorgeirsson
    • , Thomas D. Als
    • , Jakob Grove
    • , Kalle Leppälä
    • , Daniel F. Gudbjartsson
    • , Jonatan Pallesen
    • , Carsten Hjorthøj
    • , Gunnar W. Reginsson
    • , Thorarinn Tyrfingsson
    • , Valgerdur Runarsdottir
    • , Per Qvist
    • , Jane Hvarregaard Christensen
    • , Jonas Bybjerg-Grauholm
    • , Marie Bækvad-Hansen
    • , Laura M. Huckins
    • , Eli A. Stahl
    • , Allan Timmermann
    • , Esben Agerbo
    • , David M. Hougaard
    • , Thomas Werge
    • , Ole Mors
    • , Preben Bo Mortensen
    • , Merete Nordentoft
    • , Mark J. Daly
    • , Hreinn Stefansson
    • , Kari Stefansson
    • , Mette Nyegaard
    •  & Anders D. Børglum
  • Research | | open

    Grain of indica rice accumulates more toxic cadmium (Cd) than japonica, but the underlying genetic basis is unclear. Here, the authors show that natural variation of OsCd1 contributes to divergence in grain Cd accumulation and transferring japonica allele to indica rice leads to reduced Cd accumulation.

    • Huili Yan
    • , Wenxiu Xu
    • , Jianyin Xie
    • , Yiwei Gao
    • , Lulu Wu
    • , Liang Sun
    • , Lu Feng
    • , Xu Chen
    • , Tian Zhang
    • , Changhua Dai
    • , Ting Li
    • , Xiuni Lin
    • , Zhanying Zhang
    • , Xueqiang Wang
    • , Fengmei Li
    • , Xiaoyang Zhu
    • , Jinjie Li
    • , Zichao Li
    • , Caiyan Chen
    • , Mi Ma
    • , Hongliang Zhang
    •  & Zhenyan He
  • Research | | open

    Prediction of face from DNA followed by matching to facial images has been proposed for forensic applications. Here, Sero et al. present a different approach that can establish facial identity from DNA without directly predicting the face but is based on classifying given faces by individual DNA-encoded traits.

    • Dzemila Sero
    • , Arslan Zaidi
    • , Jiarui Li
    • , Julie D. White
    • , Tomás B. González Zarzar
    • , Mary L. Marazita
    • , Seth M. Weinberg
    • , Paul Suetens
    • , Dirk Vandermeulen
    • , Jennifer K. Wagner
    • , Mark D. Shriver
    •  & Peter Claes
  • Research | | open

    Shortening of leukocyte telomere length (LTL) is associated with age and increased risk for various chronic diseases. Here, the authors report genome-wide association studies for LTL in Singaporean Chinese populations and find that longer LTL associates with less severe outcomes of respiratory disease phenotypes.

    • Rajkumar Dorajoo
    • , Xuling Chang
    • , Resham Lal Gurung
    • , Zheng Li
    • , Ling Wang
    • , Renwei Wang
    • , Kenneth B. Beckman
    • , Jennifer Adams-Haduch
    • , Yiamunaa M
    • , Sylvia Liu
    • , Wee Yang Meah
    • , Kar Seng Sim
    • , Su Chi Lim
    • , Yechiel Friedlander
    • , Jianjun Liu
    • , Rob M. van Dam
    • , Jian-Min Yuan
    • , Woon-Puay Koh
    • , Chiea Chuen Khor
    •  & Chew-Kiat Heng

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