@article{4cdfa61c8fb84ccc9560e42e78e75da5,
title = "Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenstr{\"o}m macroglobulinemia",
abstract = "Waldenstr{\"o}m macroglobulinemia (WM)/lymphoplasmacytic lymphoma (LPL) is a rare, chronic B-cell lymphoma with high heritability. We conduct a two-stage genome-wide association study of WM/LPL in 530 unrelated cases and 4362 controls of European ancestry and identify two high-risk loci associated with WM/LPL at 6p25.3 (rs116446171, near EXOC2 and IRF4; OR = 21.14, 95% CI: 14.40–31.03, P = 1.36 × 10−54) and 14q32.13 (rs117410836, near TCL1; OR = 4.90, 95% CI: 3.45–6.96, P = 8.75 × 10−19). Both risk alleles are observed at a low frequency among controls (~2–3%) and occur in excess in affected cases within families. In silico data suggest that rs116446171 may have functional importance, and in functional studies, we demonstrate increased reporter transcription and proliferation in cells transduced with the 6p25.3 risk allele. Although further studies are needed to fully elucidate underlying biological mechanisms, together these loci explain 4% of the familial risk and provide insights into genetic susceptibility to this malignancy.",
author = "McMaster, {Mary L.} and Berndt, {Sonja I.} and Jianqing Zhang and Slager, {Susan L.} and Li, {Shengchao Alfred} and Vajdic, {Claire M.} and Smedby, {Karin E.} and Huihuang Yan and Birmann, {Brenda M.} and Brown, {Elizabeth E.} and Alex Smith and Geffen Kleinstern and Fansler, {Mervin M.} and Christine Mayr and Bin Zhu and Chung, {Charles C.} and Park, {Ju Hyun} and Laurie Burdette and Hicks, {Belynda D.} and Amy Hutchinson and Teras, {Lauren R.} and Adami, {Hans Olov} and Bracci, {Paige M.} and James McKay and Alain Monnereau and Link, {Brian K.} and Vermeulen, {Roel C.H.} and Ansell, {Stephen M.} and Ann Maria and Diver, {W. Ryan} and Mads Melbye and Ojesina, {Akinyemi I.} and Peter Kraft and Paolo Boffetta and Jacqueline Clavel and Edward Giovannucci and Besson, {Caroline M.} and Federico Canzian and Travis, {Ruth C.} and Paolo Vineis and Elisabete Weiderpass and Rebecca Montalvan and Zhaoming Wang and Meredith Yeager and Nikolaus Becker and Yolanda Benavente and Paul Brennan and Lenka Foretova and Marc Maynadie and Alexandra Nieters and {et al.}",
year = "2018",
doi = "10.1038/s41467-018-06541-2",
language = "English",
volume = "9",
pages = "1--12",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "nature publishing group",
number = "1",
}