@misc{10481/72091,
year = {2021},
month = {11},
url = {http://hdl.handle.net/10481/72091},
abstract = {There is overwhelming epidemiologic evidence that the risk of multiple myeloma (MM) has a solid genetic background. Genome-wide association studies (GWAS) have identified 23 risk loci that contribute to the genetic susceptibility of MM, but have low individual penetrance. Combining the SNPs in a polygenic risk score (PRS) is a possible approach to improve their usefulness. Using 2361 MM cases and 1415 controls from the International Multiple Myeloma rESEarch (IMMEnSE) consortium, we computed a weighted and an unweighted PRS. We observed associations with MM risk with OR = 3.44, 95% CI 2.53-4.69, p = 3.55 x 10(-15) for the highest vs. lowest quintile of the weighted score, and OR = 3.18, 95% CI 2.1 = 34-4.33, p = 1.62 x 10(-13) for the highest vs. lowest quintile of the unweighted score. We found a convincing association of a PRS generated with 23 SNPs and risk of MM. Our work provides additional validation of previously discovered MM risk variants and of their combination into a PRS, which is a first step towards the use of genetics for risk stratification in the general population.},
organization = {University of Pisa, DKFZ},
organization = {University Hospital of Southern Jutland, Denmark},
organization = {Institut National du Cancer (INCA) France},
publisher = {Nature},
title = {A polygenic risk score for multiple myeloma risk prediction},
doi = {10.1038/s41431-021-00986-8},
author = {Canzian, Federico and Sáinz Pérez, Juan},
}