Single-nucleotide polymorphism associations for colorectal cancer in southern Chinese population

Abstract

Objective: Genome-wide association studies (GWAS) have identified 11 loci that influence the risk of developing colorectal cancer (CRC). Given that these studies were conducted in European Caucasian populations, it is not clear whether the results are relevant for populations with different ethnicities. The aim of this study was to examine these associations in a southern Chinese population.Methods: Eleven single-nucleotide polymorphisms (SNPs), rs12701937, rs16892766, rs7014346, rs6983267, rs719725, rs10795668, rs3802842, rs4444235, rs9929218, rs10411210, and rs961253, were genotyped in 229 CRC patients and 267 controls using the MassArray SNP genotyping system.Results: Evidence of an association with CRC was found for four of the 11 loci. The strongest associations were with rs4444235 and rs961253, with significant odds ratios close to those reported in previous GWAS. Among these four loci, rs719725 and rs4444235 were significantly associated with female gender, rs3802842, rs961253, and rs4444235 with early disease onset, and rs3802842 with later disease onset. However, no associations with CRC risk were detected for six other loci (rs9929218, rs10411210, rs12701937, rs7014346, rs6983267, and rs10795668), and one SNP, rs16892766, was not polymorphic in any of the study participants.Conclusion: The rs4444235 and rs961253 loci are strongly associated with the risk of CRC in southern Chinese.

Association of colorectal cancer susceptibility variants with esophageal cancer in a Chinese population

“…The SNP rs4444235, which is located 9.4 kb upstream of the gene encoding bone morphogenetic protein 4 (BMP4), was previously associated with CRC and gastric cancer risk [22,23] . Although the CT genotype showed a protective effect against gastric cancer [23] , it was also associated with an increased CRC risk [24] . This SNP has been proposed to act as a cis-regulator of BMP4 and thus confer a risk for CRC [25,26] .…”

“…This association was not strongly modified by sex, body mass index, alcohol, smoking, aspirin or various dietary factors [20] . The SNP rs4444235, which is located 9.4 kb upstream of the gene encoding bone morphogenetic protein 4 (BMP4), was previously associated with CRC and gastric cancer risk [22,23] . Although the CT genotype showed a protective effect against gastric cancer [23] , it was also associated with an increased CRC risk [24] .…”

Common genetic variant on BMP4 contributes to colorectal adenoma and cancer: A meta-analysis based on 15 studies

“…A total of 15 eligible studies [19][20][21][22][23][24][25][26][27][28][29][30][31][32][33] were included in the meta-analysis involving 58,626 cases and 88,098 controls. The literature selection process was showed in supplementary Fig.…”

Analyzing large-scale samples highlights significant association between rs10411210 polymorphism and colorectal cancer

“…In order to investigate whether rs10411210 polymorphism is associated with CRC risk, GWAS and candidate studies are conducted in European, Asian and American populations [9][10][11][12][13][14][15][16][17]. However these studies reported consistent and inconsistent results.…”

“…One study reported significant association between rs10411210 and CRC (P < 0.05) [17], and the other studies reported no association between rs10411210 and CRC (P ! 0.05) [9][10][11][12][13][14][15][16]. Kang et al recently examined the relationship between 22 GWAS-identified single nucleotide polymorphisms (SNPs) and the clinical outcomes of CRC patients [18].…”