title: Insight into rheumatological cause and effect through the use of Mendelian randomization.
abstract: Establishing causality of risk factors is important to determine the pathogenetic mechanisms underlying rheumatic diseases, and can facilitate the design of interventions to improve care for affected patients. The presence of unmeasured confounders, as well as reverse causation, is a challenge to the assignment of causality in observational studies. Alleles for genetic variants are randomly inherited at meiosis. Mendelian randomization analysis uses these genetic variants to test whether a particular risk factor is causal for a disease outcome. In this Review of the Mendelian randomization technique, we discuss published results and potential applications in rheumatology, as well as the general clinical utility and limitations of the approach.
authors.affiliation: School of Medicine, Faculty of Medicine and Biomedical Sciences, University of Queensland, Herston Road, Brisbane, Queensland 4006, Australia.|Department of Rheumatology, Royal Brisbane and Women's Hospital, Butterfield St and Bowen Bridge Rd, Brisbane, Queensland 4029, Australia.
authors.forename: Philip C
authors.initials: PC
authors.lastname: Robinson
authors.affiliation: Division of Rheumatology, Allergy, and Immunology, Massachusetts General Hospital, 55 Fruit Street, Harvard Medical School, Boston, Massachusetts 02114, USA.
authors.forename: Hyon K
authors.initials: HK
authors.lastname: Choi
authors.affiliation: Genetics and Genome Sciences, Mount Sinai School of Medicine, 1 Gustav L. Levy Place, New York 10029-5674, USA.
authors.forename: Ron
authors.initials: R
authors.lastname: Do
authors.affiliation: Department of Biochemistry, 710 Cumberland Street, University of Otago, Dunedin 9054, New Zealand.
authors.forename: Tony R
authors.initials: TR
authors.lastname: Merriman
mesh_terms: D015519:Bone Density; D002318:Cardiovascular Diseases / Q000235:genetics; D014644:Genetic Variation; D006031:Glycosylation; D006801:Humans; D007074:Immunoglobulin G / Q000378:metabolism; D007375:Interleukin-1 / Q000378:metabolism; D057182:Mendelian Randomization Analysis / Q000379:methods*; D010641:Phenotype; D012216:Rheumatic Diseases / Q000235:genetics* / Q000378:metabolism*; D015398:Signal Transduction; D014527:Uric Acid / Q000652:urine*
chemical_list: D007074:Immunoglobulin G; D007375:Interleukin-1; D014527:Uric Acid