The PTPN13 Y2081D (T>G) (rs989902) polymorphism is associated with an increased risk of sporadic colorectal cancer
The PTPN13 Y2081D (T>G) (rs989902) polymorphism is associated with an increased risk of sporadic colorectal cancer
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DOI：
10.1111/codi.13727
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发表时间：
2017-07-01
影响因子：
3.4
通讯作者：
Sasiadek, M. M.
中科院分区：
文献类型：
--
作者：
Laczmanska, I.;Karpinski, P.;Sasiadek, M. M.
结直肠癌（CRC）是世界上最常见的癌症之一，尽管大多数病例是散发性的，但其发展和进展取决于一系列因素：环境、遗传和表观遗传。多种遗传途径在结直肠癌中起着至关重要的作用，包括蛋白酪氨酸磷酸酶（PTPs）。PTPN13（也称为FAP-1）是一种非受体PTP，与生长和凋亡途径的许多重要组分相互作用。它还参与抑制fas诱导的细胞凋亡。方法对174例散发性结直肠癌患者和176例健康人血样中PTPN13外显子39 Y2081D (T>G) （rs989902）单核苷酸多态性基因型进行检测。同时，对通过PubMed和ResearchGate数据库访问的三篇文章进行了荟萃分析。结果GG基因型患者发生结直肠癌的风险是TT基因型患者的2.087倍（P = 0.0475）。在荟萃分析中，在头颈部鳞状细胞癌亚组（TT vs GG+GT, OR 1.23, 95% CI [1.02, 1.47], P = 0.0258）中观察到与G等位基因相关的癌症风险显著增加，在乳腺癌亚组（TT vs GG+GT, OR 0.63, 95% CI [0.41, 0.96], P = 0.0334）和CRC亚组（GT+TT vs GG, OR 0.51, 95% CI [0.41, 0.95], P = 0.0333）中观察到与G等位基因相关的风险显著降低。结论PTPN13 rs989902与波兰人群结直肠癌风险显著相关。鉴于该报告首次提供了PTPN13 rs989902与高加索人群结直肠癌风险相关的证据，需要进一步的大规模研究来证实这一发现。
Aim Colorectal cancer (CRC) is one of the most common cancers worldwide and, although the majority of cases are sporadic, its development and progression depends on a range of factors: environmental, genetic and epigenetic. A variety of genetic pathways have been described as being crucial in CRC, including protein tyrosine phosphatases (PTPs). PTPN13 (also called FAP-1) is a non-receptor PTP and interacts with a number of important components of growth and apoptosis pathways. It is also involved in the inhibition of Fas-induced apoptosis.Method The single nucleotide polymorphism genotype at Y2081D (T>G) (rs989902) of PTPN13 exon 39 was determined in DNA extracted from blood samples from 174 sporadic CRC patients and 176 healthy individuals. Also, a meta-analysis was performed based on three articles accessed via the PubMed and ResearchGate databases.Results The risk of CRC was 2.087 times greater for patients with the GG genotype than for those with the TT genotype (P = 0.0475). In the meta-analysis, a significantly increased risk of cancer associated with the G allele was observed in the squamous cell carcinoma of the head and neck subgroup (TT vs GG+GT, OR 1.23, 95% CI [1.02, 1.47], P = 0.0258), and a significantly decreased risk in the breast cancer subgroup (TT vs GG+GT, OR 0.63, 95% CI [0.41, 0.96], P = 0.0334) and in the CRC subgroup (GT+TT vs GG, OR 0.51, 95% CI [0.41, 0.95], P = 0.0333).Conclusion PTPN13 rs989902 is significantly associated with the risk of CRC in the Polish population. Given that this report provides the first evidence of an association of PTPN13 rs989902 with the risk of CRC in a Caucasian population, further large scale studies are necessary to confirm this finding.