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Inherited coding variants at the CDKN2A locus influence susceptibility to acute lymphoblastic leukaemia in children.

Abstract：

:There is increasing evidence from genome-wide association studies for a strong inherited genetic basis of susceptibility to acute lymphoblastic leukaemia (ALL) in children, yet the effects of protein-coding variants on ALL risk have not been systematically evaluated. Here we show a missense variant in CDKN2A associated with the development of ALL at genome-wide significance (rs3731249, P=9.4 × 10(-23), odds ratio=2.23). Functional studies indicate that this hypomorphic variant results in reduced tumour suppressor function of p16(INK4A), increases the susceptibility to leukaemic transformation of haematopoietic progenitor cells, and is preferentially retained in ALL tumour cells. Resequencing the CDKN2A-CDKN2B locus in 2,407 childhood ALL cases reveals 19 additional putative functional germline variants. These results provide direct functional evidence for the influence of inherited genetic variation on ALL risk, highlighting the important and complex roles of CDKN2A-CDKN2B tumour suppressors in leukaemogenesis.

journal_name

Nat Commun

journal_title

Nature communications

authors

Xu H,Zhang H,Yang W,Yadav R,Morrison AC,Qian M,Devidas M,Liu Y,Perez-Andreu V,Zhao X,Gastier-Foster JM,Lupo PJ,Neale G,Raetz E,Larsen E,Bowman WP,Carroll WL,Winick N,Williams R,Hansen T,Holm JC,Mardis E,Fulton

doi

10.1038/ncomms8553

subject

Has Abstract

pub_date

2015-06-24 00:00:00

pages

7553

issn

2041-1723

pii

ncomms8553

journal_volume

6

pub_type

杂志文章

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