Claire Infante-Rivard MD, PhD James McGill Professor

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Presentation transcript:

Claire Infante-Rivard MD, PhD James McGill Professor Genetic epidemiology Claire Infante-Rivard MD, PhD James McGill Professor

In the news: is it accurate information? The heterogeneous A/G genotype was present in 29.5% of patients with VWF and 0.3% of the controls (P<0.001), the researchers reported online in Clinical Epigenetics. "We therefore claim [that] genotype to be a risk factor for VWF, and that it may be used as a biological marker to facilitate the identification of risk populations who are being considered for exposure to potentially hazardous handheld vibrating machinery," they wrote. "This may prevent thousands of employees from experiencing physical pain and disability, in addition to long-lasting administrative fights for VWF compensation, which frequently end unsettled and in great frustration Voelter-Mahlknecht S, et al "Sirtuin 1 single nucleotide polymorphism (A2191G) is a diagnostic marker for vibration-induced white finger disease" Clin Epigenetics 2012.

Areas of study Small-for-gestational age babies Childhood leukemia Lifestyle, biological, and genetic factors Infante-Rivard C et al. New Engl J Med 2002; 347:19-24 Infante-Rivard C. Am J Epidemiol 2010;171:999-1006. Childhood leukemia Environmental and genetic risk factors, lifestyle of parents; international consortium with the goal of pooling data Infante-Rivard C et al. Am J Epidemiol 2007;165:1248-54 Childhood brain tumors Environmental and eventually genetic risk factors: international consortium in development Roncarolo F, Infante-Rivard C. Cancer Causes and Control 2012;23:617-23. Childhood asthma Environmental and genetic risk factors Infante-Rivard C et al. Am J Epidemiol 1999;150:528-31.

More Interest in family trios How to use genetic data from both families and case-control together in the analysis Infante-Rivard C, Mirea L, Bull SB Am J Epidemiol 2009;170:657-64 The importance of transmission ratio distortion (transmission of alleles in trios) in control trios when analyzing case trios Huang (PhD candidate), Labbe, Infante-Rivard