title: Genetic variants in trinucleotide repeat-containing 9 (TNRC9) are associated with risk of estrogen receptor positive breast cancer in a Chinese population.
abstract: Trinucleotide repeat-containing 9 (TNRC9), a high mobility group chromatin-associated protein, has been implicated in breast cancer metastasis to the bone. Recently, several single nucleotide polymorphisms (SNPs) of TNRC9 were identified as novel breast cancer susceptibility loci by whole genome association studies, especially in estrogen receptor (ER) positive tumors. In the present case-control study of 1,049 breast cancer patients and 1,073 cancer-free controls in a Chinese population, we genotyped three polymorphisms (rs3803662C/T, rs12443621A/G, and rs8051542C/T) of the TNRC9 gene using the SNPstream 12-plex platform to test the hypothesis that these SNPs are associated with breast cancer risk in this population. None of the three polymorphisms was significantly associated with breast cancer risk in the whole data set (P = 0.151, 0.644, and 0.737 for rs3803662, rs12443621. and rs8051542, respectively). However, rs12443621 AG/GG genotypes were significantly associated with increased risk of ER positive breast cancer (OR = 1.38, 95% CI = 1.01-1.88), compared with homozygote AA. In addition, a borderline significantly increased risk was also observed for the variant genotypes (CT/TT) of rs8051542 C/T compared with the wild-type genotype (CC) (adjusted OR = 1.26, 95% CI = 0.99-1.60). Interestingly, a significant interaction was detected between rs12443621A/G and ER status on breast cancer risk in a case-only analysis (P for interaction = 0.004). These findings suggest that genetic variants of TNRC9 may contribute to the development of ER positive breast cancer.
authors.affiliation: Laboratory of Reproductive Medicine, Cancer Center, Nanjing Medical University, 210029 Nanjing, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Liang
authors.forename: Peizhan
authors.initials: P
authors.lastname: Chen
authors.forename: Zhibin
authors.initials: Z
authors.lastname: Hu
authors.forename: Hao
authors.initials: H
authors.lastname: Shen
authors.forename: Furu
authors.initials: F
authors.lastname: Wang
authors.forename: Lu
authors.initials: L
authors.lastname: Chen
authors.forename: Mian
authors.initials: M
authors.lastname: Li
authors.forename: Jinhai
authors.initials: J
authors.lastname: Tang
authors.forename: Hui
authors.initials: H
authors.lastname: Wang
authors.forename: Hongbing
authors.initials: H
authors.lastname: Shen
mesh_terms: D000328:Adult; D051017:Apoptosis Regulatory Proteins; D044466:Asian People / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000032:analysis*; D001943:Breast Neoplasms / Q000737:chemistry / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006609:High Mobility Group Proteins; D006801:Humans; D016015:Logistic Models; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011960:Receptors, Estrogen / Q000032:analysis*; D011980:Receptors, Progesterone / Q000235:genetics*; D018570:Risk Assessment; D012307:Risk Factors; D015534:Trans-Activators
chemical_list: D051017:Apoptosis Regulatory Proteins; D014408:Biomarkers, Tumor; D006609:High Mobility Group Proteins; D011960:Receptors, Estrogen; D011980:Receptors, Progesterone; C521752:TOX3 protein, human; D015534:Trans-Activators