Open AccessAssociation of ATM and BMI ‐1 genetic variation with breast cancer risk in Han Chinese
Author(s) -
Yue LiLing,
Wang FuChao,
Zhang MingLong,
Liu Dan,
Chen Ping,
Mei QingBu,
Li PengHui,
Pan HongMing,
Zheng LiHong
Publication year - 2018
Publication title -
journal of cellular and molecular medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.44
H-Index - 130
eISSN - 1582-4934
pISSN - 1582-1838
DOI - 10.1111/jcmm.13650
Subject(s) - breast cancer , haplotype , odds ratio , allele , confidence interval , oncology , genetics , medicine , genotyping , biology , genotype , gene , cancer
We tested the hypothesis that genetic variation in ATM and BMI ‐1 genes can alter the risk of breast cancer through genotyping 6 variants among 524 breast cancer cases and 518 cancer‐free controls of Han nationality. This was an observational, hospital‐based, case–control association study. Analyses of single variant, linkage, haplotype, interaction and nomogram were performed. Risk was expressed as odds ratio ( OR ) and 95% confidence interval ( CI ). All studied variants were in the Hardy‐Weinberg equilibrium and were not linked. The mutant allele frequencies of rs1890637, rs3092856 and rs1801516 in ATM gene were significantly higher in cases than in controls ( P = .005, <.001 and .001, respectively). Two variants, rs1042059 and rs201024480, in BMI ‐1 gene were low penetrant, with no detectable significance. After adjustment, rs189037 and rs1801516 were significantly associated with breast cancer under the additive model ( OR : 1.37 and 1.52, 95% CI : 1.10‐1.71 and 1.14‐2.04, P : .005 and .005, respectively). In haplotype analysis, haplotypes A‐C‐G‐G (in order of rs189037, rs3092856, rs1801516 and rs373759) and A‐C‐A‐A in ATM gene were significantly associated with 1.98‐fold and 6.04‐fold increased risk of breast cancer (95% CI : 1.36‐2.90 and 1.65‐22.08, respectively). Nomogram analysis estimated that the cumulative proportion of 3 significant variants in ATM gene was about 12.5%. Our findings collectively indicated that ATM gene was a candidate gene in susceptibility to breast cancer in Han Chinese.