TP53 Pro47Ser and Arg72Pro polymorphisms and colorectal cancer predisposition in an ethnic Kashmiri population
TP53 Pro47Ser and Arg72Pro polymorphisms and colorectal cancer predisposition in an ethnic Kashmiri population
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DOI：
10.4238/vol9-2gmr751
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发表时间：
2010-01-01
影响因子：
0.4
通讯作者：
Siddiqi, M. A.
中科院分区：
文献类型：
--
作者：
Sameer, A. S.;Shah, Z. A.;Siddiqi, M. A.
TP 53基因第47位密码子（TP 53 Pro47 Ser）和第72位密码子（TP 53 Arg 72 Pro）的两个多态性与多种癌症的易感性相关。我们进行了一项病例对照研究，并检查TP 53 Pro47 Ser和Arg 72 Pro单核苷酸多态性（SNPs）的基因型分布，使用PCR-RFLP方法，以确定这两个SNPs是否是结直肠癌（CRC）发展的危险因素，并寻找这两个SNPs与CRC的临床病理变量的可能相关性。我们研究了86例CRC病例中这些SNP的基因型分布，并与克什米尔族人群中的160名健康受试者进行了比较。TP 53 Arg 72 Pro SNP基因型频率在各组之间差异显著（P = 0.000001）; Pro/Pro突变体的频率在一般人群中几乎为20%。我们还发现Pro/Pro突变与肿瘤位置、淋巴结状态/较高肿瘤分级和经直肠出血/便秘显著相关。我们得出结论，Arg 72 Pro SNP与克什米尔人患CRC的易感性有关。
Two TP53 gene polymorphisms at codon 47 (TP53 Pro47Ser) and at codon 72 (TP53 Arg72Pro) have been associated with susceptibility to various cancers. We carried out a case-control study and examined the genotype distribution of TP53 Pro47Ser and Arg72Pro single nucleotide polymorphisms (SNPs), using a PCR-RFLP approach, to determine if these two SNPs are risk factors for colorectal cancer (CRC) development and to look for a possible correlation of these two SNPs with clinicopathological variables of CRC. We investigated the genotype distribution of these SNPs in 86 CRC cases in comparison with 160 healthy subjects in an ethnic Kashmiri population. TP53 Arg72Pro SNP genotype frequencies differed significantly (P = 0.000001) between the groups; the frequency of the Pro/Pro mutant was almost 20% in the general population. We also found significant association of the Pro/Pro mutant with tumor location, nodal status/higher tumor grade and bleeding per rectum/constipation. We conclude that Arg72Pro SNP is associated with susceptibility to developing CRC in this ethnic Kashmiri population.