Mateş I N, Csiki I, Mateş D, Constantinescu V, Badea P, Dinu D, Constantin A, Constantinoiu S
St. Mary Clinic of General and Esophageal Surgery, Carol Davila Universtity of Medicine and Pharmacy, Bucharest.
Chirurgia (Bucur). 2010 Nov-Dec;105(6):749-57.
Recently, several genome-wide association studies identified and validated loci at which common genetic variants influence the risk of colorectal cancer. We aimed to test the association between eight SNPs and colorectal cancer in a Romanian case-control sample. We genotyped rs10795668, rs16892766, rs3802842, rs4444235, rs4779584, rs4939827, rs6983267, and rs9929218 and we statistically tested the association with the disease. Five SNPs (rs6983267, rs4939827, rs3802842, rs4444235, rs10795668) showed an association with colon and rectal cancer. Three of them proved to be statistically significant: rs6983267 and rs4939827 risk alleles were significantly associated with rectal cancers (p = 0.031 and p = 0.004 for homozygous, p = 0.002 and p = 0.005 for heterozygous). For rs3802842 we found a greater risk for colon than rectal cancer with an OR of 2.26 (CI = 1.04-5.88, p = 0.040) for the dominant model. The rs4444235 confirmed the risk for both homozygous and heterozygous carriers, with the greatest ORs of 1.49 (CI = 0.61-3.61) for heterozygote. For rs10795668 we found an increased risk for rectum cancer vs. controls with an OR of 1.46 (CI = 0.66-3.21), and for rectum cancer vs. colon cancer (OR = 2.19; CI = 0.87-5.55). This is the first Romanian study that confirms previously-identified associations with colorectal cancer risk for five out of eight SNPs investigated and underlines the necessity of extensive replication using larger samples.
最近，多项全基因组关联研究确定并验证了一些位点，常见基因变异会在这些位点影响结直肠癌风险。我们旨在检测罗马尼亚病例对照样本中8个单核苷酸多态性（SNP）与结直肠癌之间的关联。我们对rs10795668、rs16892766、rs3802842、rs4444235、rs4779584、rs4939827、rs6983267和rs9929218进行基因分型，并对其与疾病的关联进行统计学检验。5个SNP（rs6983267、rs4939827、rs3802842、rs4444235、rs10795668）显示与结肠癌和直肠癌有关联。其中3个经证实具有统计学意义：rs6983267和rs4939827的风险等位基因与直肠癌显著相关（纯合子的p值分别为0.031和0.004，杂合子的p值分别为0.002和0.005）。对于rs3802842，我们发现结肠癌风险高于直肠癌，显性模型的比值比（OR）为2.26（95%置信区间[CI]=1.04 - 5.88，p = 0.040）。rs4444235证实纯合子和杂合子携带者均有风险，杂合子的最大OR为1.49（CI = 0.61 - 3.61）。对于rs10795668，我们发现直肠癌相对于对照组风险增加，OR为1.46（CI = 0.66 - 3.21），直肠癌相对于结肠癌（OR = 2.19；CI = 0.87 - 5.55）。这是罗马尼亚的第一项研究，证实了所研究的8个SNP中有5个与结直肠癌风险的先前确定的关联，并强调了使用更大样本进行广泛重复验证的必要性。
