Genetic association study

A genetic association study aims to test whether a given sequence, such as a region of a chromosome, a haplotype, a gene, or an allele, has involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease. This usually involves comparing genotypes from two groups of individuals (often diseased subjects and healthy controls).

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  • News & Views |

    Although clear genetic connections to ALS were first established three decades ago, there has been negligible progress in the development of disease-modifying treatments for this disease. Despite tremendous unmet need, industry has often been largely baffled by a disease seemingly designed to thwart current effective drug development approaches. In the largest genetic study of ALS to date, van Rheenen and colleagues use sophisticated analyses to gain novel insights into its pathogenesis.

    • Sunil Sahdeo
    •  & David B. Goldstein
    Nature Genetics 53, 1624-1626
  • Comments & Opinion
    | Open Access

    FANCM protein truncating variants (PTVs) are emerging as risk factors for ER-negative and triple negative breast cancer. Here, we discuss evidence that greatest risk associates with PTVs, such as p.Arg658*, that extensively truncate the 2048 amino acid FANCM protein. Moreover, risks associated with other less-truncating FANCM PTVs such as p.Gln1701* and p.Gly1906Alafs12* may be amplified by additional gene variants acting as modifiers. Further studies need to be conducted taking into considerations these aspects.

    • Paolo Peterlongo
    • , Gisella Figlioli
    •  & Fergus J. Couch
  • Editorial |

    Although it should be a given that scholarly communication must be clear and accurate, researchers, particularly those in the field of human genetics, can also promote the responsible reporting of their findings to a broader public audience in ways that heighten understanding and reduce misinterpretation.

    Nature Genetics 53, 1271
  • News & Views |

    Genome-wide association studies have identified genetic variants in maternal and fetal genomes associated with early-life growth traits but have been limited by the paucity of large-scale family-based cohorts that would enable the resolution of informative transmissions between parents and their offspring. A new study uses extensive pedigree data from the Icelandic population to identify genetic effects on birth weight that differ according to parental origin and to demarcate distinct contributions from the maternal intrauterine environment and offspring genetics on fetal growth.

    • David M. Evans
    •  & Rachel M. Freathy
    Nature Genetics 53, 1120-1121