Association of polymorphisms in LOC105377871 and CASC16 with breast cancer in the northwest Chinese Han population

Abstract

Background Breast cancer represents the cancer with the highest incidence and mortality among women in the world, and its pathogenesis is complex. Single nucleotide polymorphisms (SNPs) are one of the factors that influence the risk of breast cancer. The present study aimed to investigate the effects of LOC105377871 and CASC16 polymorphisms on the risk of breast cancer in the northwest Chinese Han population. Methods We selected 503 breast cancer patients and 503 healthy controls for the present study. Genotyping was performed using the Agena MassARRAY system (Agenea Bioscience, San Diego, CA, USA) and we evaluated the association between SNPs (rs17530068 and rs4784227) and the risk of breast cancer in four genetic models. Unconditional logistic regression was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs). Results It was found that the rs17530068 increased the breast cancer risk in log‐additive model (p = 0.047, OR = 1.23, 95% CI = 1.00–1.50). After stratification, the “T” allele of rs4784227 increased the risk of lymph node metastasis in breast cancer patients (allele: p = 0.025, OR = 1.51, 95% CI = 1.05–2.17; codominant model: p = 0.008, OR = 1.99, 95% CI = 1.20–3.31; dominant model: p = 0.008, OR = 1.94, 95% CI = 1.19–3.16; log‐additive model: p = 0.023, OR = 1.52, 95% CI = 1.06–2.19). Conclusions The results of the present study show that, in the northwest Chinese Han population, SNP rs17530068 (LOC105377871) increases the risk of breast cancer and SNP rs4784227 (CASC16) promotes lymph node metastasis in breast cancer patients.

Comment on: Association of polymorphisms in LOC105377871 and CASC16 with breast cancer in the northwest Chinese Han population

“…are more extensive compared to those in the study reported by Sun et al . In addition, the OR (95% CI) in the study by Sun et al . approaches a near critical value; if the individual study increased the sample size, this might yield a significant association.…”

“…and Long et al . are more extensive compared to those in the study reported by Sun et al . In addition, the OR (95% CI) in the study by Sun et al .…”

“…A recent study by Sun et al . in the Journal of Gene Medicine attracted our interest, where the authors conducted a case–control study of 503 cases and 503 controls and found that the C allele of the rs17530068 polymorphism was associated with an increased risk of BC ( p = 0.047, odds ratio [OR] = 1.23, 95% confidence interval [CI] = 1.00–1.50, power = 0.682).…”

Association between CASC16 rs4784227 polymorphism and breast cancer susceptibility

“…[ 31 , 32 ] Zou et al found that rs4784227 was associated with an increased risk of lymph node metastasis in individuals with breast cancer. [ 26 ] RS4784227 is enriched in FOXA1 and regulates the affinity between chromatin and FOXA1 on the distal regulatory elements, leading to changes in the ability of FOXA1 to bind DNA. The binding site of FOXA1 can form chromatin rings with the promoter of CASC16 gene, and alterations in FOXA1-binding DNA sequence will directly affect the expression of CASC16 gene.…”

Impacts of LOC105371267 Variants on Breast Cancer Susceptibility in Northern Chinese Han Females: A Population-Based Case-Control Study

“…The pathogenesis and overall prognosis of BC are multifactorial and result from interaction between modifiable factors such as breastfeeding and oral contraceptive use and nonmodifiable factors such as age, early menarche, late menopause, ethnicity, and genetic aberrations [ 7 , 8 ]. Among the above-mentioned multiple factors, genetic factors were the major drivers in the genesis of BC [ 9 – 11 ]. BRCA1 and BRCA2 have proved to be the two classical susceptible genes in the BC hereditary [ 12 , 13 ].…”