Format

Send to

Choose Destination
See comment in PubMed Commons below
Neuron. 2016 Oct 19;92(2):339-341. doi: 10.1016/j.neuron.2016.09.053.

Case-Control Studies Are Not Familial Studies.

Author information

  • 1Townsend Family Laboratories, Department of Psychiatry, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.
  • 2Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada; Division of Neurology, Faculty of Medicine, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.
  • 3Division of Neurology, Faculty of Medicine, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.
  • 4Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.
  • 5Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.
  • 6Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada. Electronic address: carles@can.ubc.ca.

Abstract

Identifying rare genetic variants that drive the onset of disease is challenging, even before considering the additional genetic and environmental influences that likely exist in complex diseases. We recently published a study proposing a rare variant in the NR1H3 gene (p.R415Q, rs61731956) as responsible for the onset of multiple sclerosis (MS) in two multi-incident families (Wang et al., 2016). This publication has generated much discussion, and fortunately the possibility to validate a finding or prove it spurious can occur rapidly in genetic studies. All novel discoveries must be replicated, and best efforts should be made to ensure that these replications use the appropriate samples and approach, and provide the correct interpretation of the results. This Matters Arising Response paper addresses the Minikel and MacArthur (2016) and The International Multiple Sclerosis Genetics Consortium (2016) Matters Arising papers, published concurrently in Neuron.

PMID:
27764669
DOI:
10.1016/j.neuron.2016.09.053
[PubMed - in process]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center