title: The SLC4A7 variant rs4973768 is associated with breast cancer risk: evidence from a case-control study and a meta-analysis.
abstract: Recent genome-wide association study has identified a genetic variant rs4973768, located in 3'-UTR of solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), was associated with increased risk of breast cancer (BC). However, several following replication studies cannot yield consistent results. We thus conducted a hospital-based case-control study including 485 patients and 514 controls, combined a meta-analysis including 108,632 cases and 135,818 controls to explore the relationship between this variant and BC risk. Our case-control study showed that rs4973768 was significantly associated with increased BC risk with the odds ratio (OR) of 1.29 (95 % confidence interval [CI]: 1.04-1.60) under the allelic model. In addition, the meta-analysis also indicated that the variant slightly increased the risk of BC with the pooled OR of the per-allele effect being 1.08 (95 % CI: 1.04-1.11) although with significant heterogeneity between studies. Stratified analyses showed that ethnicity, sample size, and study design may explain part of the heterogeneity. Moreover, the bioinformatics analysis suggested that this variant may influence the transcriptional capacity of SLC4A7. In summary, our results showed that the SLC4A7 variant, rs4973768, is associated with risk of BC although the underlying biologic mechanism warrants further studies.
authors.affiliation: Ministry of Education Key Lab of Environment and Health, Department of Epidemiology and Biostatistics, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Chen
authors.forename: Rong
authors.initials: R
authors.lastname: Zhong
authors.forename: Jie
authors.initials: J
authors.lastname: Ming
authors.forename: Li
authors.initials: L
authors.lastname: Zou
authors.forename: Beibei
authors.initials: B
authors.lastname: Zhu
authors.forename: Xuzai
authors.initials: X
authors.lastname: Lu
authors.forename: Juntao
authors.initials: J
authors.lastname: Ke
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhang
authors.forename: Li
authors.initials: L
authors.lastname: Liu
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Miao
authors.forename: Tao
authors.initials: T
authors.lastname: Huang
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D008957:Models, Genetic; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D017594:Publication Bias; D027982:Sodium-Bicarbonate Symporters / Q000235:genetics*
chemical_list: C422022:SLC4A7 protein, human; D027982:Sodium-Bicarbonate Symporters