PTPRJ haplotypes and colorectal cancer risk.
PTPRJ haplotypes and colorectal cancer risk.
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PTPRJ 单倍型和结直肠癌风险。
DOI：
10.1158/1055-9965.epi-08-0513
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发表时间：
2008
期刊：
影响因子：
--
通讯作者：
Gruber,StephenB
中科院分区：
文献类型：
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作者：
Toland,AmandaE;Rozek,LauraS;Presswala,Shafaq;Rennert,Gad;Gruber,StephenB
最近的癌症易感性小鼠定位研究成功地鉴定了一些易感基因，Ptprj被鉴定为小鼠结肠直肠癌易感性的强候选基因1，其中一个变体rs1566734显示了人类结肠直肠肿瘤中优先等位基因不平衡的证据。人类PTPRJ的单倍型也与乳腺癌风险的保护作用有关。为了确定PTPR J的变异或单倍型是否对结直肠癌（CRC）具有保护或风险作用，我们对来自结直肠癌分子流行病学研究的CRC病例和对照组中的rs1566734和6个额外的PTPR J单倍型标记单核苷酸多态性（SNP）进行了基因分型。在1,897例病例和1,954例对照中，没有证据表明rs1566734具有癌症风险，纯合子比值比为1.09，95%置信区间为0.85至1.39。6个标签SNPs导致6个主要单倍型（频率，> 1%）。6个tagSNPs中没有一个单独显示出显著的风险证据;然而，rs1503185显示出不显著的保护作用。与对照组相比，一种单倍型在病例组中过度表达，对应于CRC风险增加34%，但病例组和对照组之间的单倍型频率总体上没有显著差异（总体检验P统计= 0.19）。从这项研究中，我们观察到PTPRJ变异或单倍型的人CRC风险没有显著增加。在CRC易感性小鼠模型中观察到的与Scc 1相关的PTPRJ相互作用位点还需要进一步研究。（癌症流行病学生物标志物Prev 2008; 17（10）：2782 - 5）
Recent studies from mouse mapping studies for cancer susceptibility have successfully led to the identification of a handful of susceptibility genes.Ptprjwas identified as a strong candidate gene for mouse locussusceptibility to colorectal cancer 1,and one variant, rs1566734, showed evidence of preferential allelic imbalance in human colorectal tumors. Haplotypes in humanPTPRJhave also been associated with protective effects for breast cancer risk. To determine if variants or haplotype inPTPRJconfer protective or risk effects for colorectal cancer (CRC), we genotyped rs1566734 and six additionalPTPRJhaplotype tagging single nucleotide polymorphisms (SNP) in CRC cases and controls from the Molecular Epidemiology of Colorectal Cancer study. There was no evidence for cancer risk with rs1566734 in 1,897 cases and 1,954 controls with a homozygote odds ratio of 1.09 and 95% confidence interval of 0.85 to 1.39. The 6 tagging SNPs resulted in 6 main haplotypes (frequencies, >1%). None of the six tagSNPs individually showed significant evidence for risk; however, rs1503185 showed a nonsignificant protective effect. One haplotype was overrepresented in cases compared with controls, corresponding to a 34% increase in risk CRC, but there was no significant difference overall in haplotype frequencies between cases and controls (global testPstatistic = 0.19). From this study, we observe no significant increase in risk for human CRC with variants or haplotypes inPTPRJ. Additional studies are warranted to study possiblePTPRJ-interacting loci, which are observed withScc1in the mouse models for CRC susceptibility. (Cancer Epidemiol Biomarkers Prev 2008;17(10):2782–5)