Functional polymorphisms in promoter survivin gene and its association with susceptibility to bladder cancer in North Indian cohort
Functional polymorphisms in promoter survivin gene and its association with susceptibility to bladder cancer in North Indian cohort
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DOI：
10.1007/s11033-011-1366-1
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发表时间：
2012-05-01
影响因子：
2.8
通讯作者：
Mittal, Rama Devi
中科院分区：
文献类型：
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作者：
Jaiswal, Praveen Kumar;Goel, Apul;Mittal, Rama Devi
Survivin是一种新的凋亡抑制蛋白家族成员，在人类肿瘤中表达。以Survivin为靶点的膀胱癌分子检测可能有助于肿瘤的发生和发展。我们采用PCR-限制性片段长度多态性技术对200例北印度膀胱癌患者和200例健康对照者进行了Survivin-31 G> C、-1547 A> G和-241 C> T基因分型，以评估其患膀胱癌的风险。我们观察到与具有2.6倍风险的Survivin-31 G> C的变异CC基因型相关的BC风险显著增加。Survivin-1547 A> G变异基因型与乳腺癌发生风险显著相关（P = 0.047）。Survivin-241 C> T的保护基因型为杂合子（P = 0.035）。吸烟显著调节Survivin -1547A > G多态性患者的风险。在接受卡介苗治疗的BC患者中，生存素-31G > C的变异型和杂基因型与复发风险降低相关（HR = 0.22和0.35），因此显示生存率最低。此外，单倍型分析显示C-A-T单倍型与BC风险降低相关。Survivin基因启动子区-31 G> C、-1547 A> G和-241 C> T多态性在北印度人群中可能起重要作用。
Survivin is a member of novel inhibitor of apoptosis protein family which expressed in human cancers. The molecular detection of bladder cancer by targeting Survivin as a novel marker may be useful in the occurrence and progression of cancer. We genotyped Survivin -31G > C, -1547A > G and -241C > T by PCR-restriction fragment length polymorphism to evaluate the risk of bladder cancer (BC) in 200 BC patients and 200 healthy controls from North Indian cohort. We observed significant increased BC risk associated with variant CC genotype of Survivin -31G > C having 2.6 fold risk. The variant genotype of Survivin -1547A > G was significantly associated with BC risk (P = 0.047). In case of Survivin -241C > T the protective genotype for BC was heterozygous (P = 0.035). Smoking significantly modulated the risk in patients with Survivin -1547A > G polymorphism. Variant as well as hetero genotype of Survivin -31G > C was associated with reduced risk of recurrence (HR = 0.22 and 0.35) in BC patients receiving BCG treatment thus showing least survival. Furthermore, the haplotype analysis revealed C-A-T haplotype to be associated with reduced BC risk. Our findings suggested that the functional polymorphism -31G > C, -1547A > G and -241C > T in the promoter of Survivin gene may play a significant role in mediating the BC risk among North Indian cohort.