MMP8 and MMP9 gene polymorphisms were associated with breast cancer risk in a Chinese Han population

Kai Wang,Feng Xue,Yi Zhou,Haifeng He,Jin Wang,Qian Zhao,Jiao Yu,Xinhan Zhao,Xinli Wen,Gang Li,Yuan Kou

doi:10.1038/s41598-018-31664-3

Abstract

Matrix metalloproteinases (MMPs) are a group of zinc-dependent endopeptidases that can breakdown almost all extracellular matrix components. MMP8 and MMP9 have been shown to be associated with breast cancer (BC) risk in European and American populations. However, few studies have focused on the polymorphisms of MMP8 and MMP9 in Chinese Han BC patients. We investigated nine single nucleotide polymorphisms (SNPs) in 571 BC cases and 578 controls to evaluating their association with risk of BC. The frequency of the “A” allele of rs3787268 was significantly lower in BC cases than in controls (P = 0.025). In the genetic model analysis, the minor allele “T” of rs11225394 in MMP8 was associated with increased risk of BC under the recessive model (P = 0.019), and the minor allele “A” of rs3787268 was associated with decreased risk of BC under the dominant model (P = 0.014). Additionally, the haplotype “AGTCA” constructed by rs3740938, rs2012390, rs1940475, rs11225394, and rs11225395 and the haplotype “CCG” constructed by rs3918249, rs3918254 and rs3787268 were associated with increased risk of BC (P < 0.05). Our data showed that polymorphisms of MMP8 and MMP9 may be associated with BC risk in the Chinese Han population.

Highlights

Breast cancer (BC) is the most frequently diagnosed cancer among females, and its incidence and mortality rate have continued to increase in recent years worldwide[1]
By comparing the difference of allele frequencies between two groups, we found that the frequency of the “A” allele of rs3787268 was significantly lower in breast cancer (BC) cases than in controls (32.2% versus 37.7%), which suggested that the “A” allele of rs3787268 may be associated with a decreased risk of BC [odds ratios (ORs) = 0.822, and 95% confidence intervals (CIs): 0.692–0.975, P = 0.025]
We investigated the associations between nine candidate single nucleotide polymorphisms (SNPs) in MMP8 and MMP9 genes and BC risk in a Chinese Han population

Summary

Introduction

Breast cancer (BC) is the most frequently diagnosed cancer among females, and its incidence and mortality rate have continued to increase in recent years worldwide[1]. Previous studies have reported that aberrant MMP expression is associated with risk of several types of cancers[14,15] and suggested that serum MMP level could be used as biological markers for early detection of disease[16]. The haplotype constructed by rs3918249, rs3918254 and rs3787268 in MMP-9 were associated with primary angle-closure glaucoma in a Chinese Han population[25]. In this case-control study, we selected and genotyped the above nine SNPs in MMP8 and MMP9 to evaluate their association with risk of BC

Methods

Results

Conclusion