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ABCB1基因C3435T多态性与乳腺癌风险的关联:一项摩洛哥病例对照研究及荟萃分析

Association between ABCB1 C3435T polymorphism and breast cancer risk: a Moroccan case-control study and meta-analysis.

作者信息

Tazzite Amal, Kassogue Yaya, Diakité Bréhima, Jouhadi Hassan, Dehbi Hind, Benider Abdellatif, Nadifi Sellama

机构信息

Genetics and Molecular Pathology Laboratory, Medical school of Casablanca, Casablanca Hassan II University, 19 Rue Tarik Ibnou Ziad, B.P. 9154, Casablanca, Morocco.

Mohammed VI Center for Cancer Treatment, Ibn Rochd University Hospital, Casablanca, Morocco.

出版信息

BMC Genet. 2016 Sep 1;17(1):126. doi: 10.1186/s12863-016-0434-x.

Abstract

BACKGROUND

Breast cancer is the most common cause of cancer death among women. Several studies have investigated the relationship between the C3435T polymorphism of ABCB1 gene and risk of breast cancer; but the results are conflicting. In the present study, we sought to assess the relationship between the C3435T polymorphism in ABCB1 gene and the risk of breast cancer in a sample of the Moroccan population.

METHODS

A case control study was performed on 60 breast cancer patients and 68 healthy women. The ABCB1 C3435T polymorphism was analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Furthermore, a meta-analysis including 16 studies with 6094 cases of breast cancer and 8646 controls was performed.

RESULTS

Genotype frequencies were 50 % for CC, 33.3 % for CT and 16.7 % for TT in patients and 41.2 % for CC, 48.5 % for CT and 10.3 % for TT respectively in the control group. This difference was not statistically significant. The same trend as observed in the allele distribution between patients and controls (P = 0.84). Findings from the meta-analysis showed that the ABCB1 C3435T polymorphism was not associated with an increased risk of breast cancer in the dominant model (OR = 0.907; 95 % CI = 0.767-1.073; P = 0.25) as well as in the recessive model (OR = 1.181; 95 % CI = 0.973-1.434; P = 0.093) and in the allele contrast model (OR = 1.098; 95 % CI = 0.972-1.240; P = 0.133). However, the stratification of studies on ethnic basis showed that the TT genotype was associated with the risk of breast cancer in Asians (OR = 1.405; 95 % CI = 1.145-1.725; P = 0.001), Caucasians (OR = 1.093; 95 % CI = 1.001-1.194; P = 0.048) and North African (OR = 2.028; 95 % CI = 1.220-3.371; P = 0.006).

CONCLUSIONS

We have noted that the implication of C3435T variant on the risk of breast cancer was ethnicity-dependent. However, there is no evidence that ABCB1 C3435T polymorphism could play a role in susceptibility to breast cancer in Morocco. Further studies with a larger sample size, extended to other polymorphisms are needed to understand the influence of ABCB1 genetic variants on the risk of breast cancer.

摘要

背景

乳腺癌是女性癌症死亡的最常见原因。多项研究调查了ABCB1基因C3435T多态性与乳腺癌风险之间的关系,但结果相互矛盾。在本研究中,我们试图评估摩洛哥人群样本中ABCB1基因C3435T多态性与乳腺癌风险之间的关系。

方法

对60例乳腺癌患者和68名健康女性进行了病例对照研究。通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析检测ABCB1 C3435T多态性。此外,进行了一项荟萃分析,纳入了16项研究,共6094例乳腺癌病例和8646例对照。

结果

患者中CC基因型频率为50%,CT基因型频率为33.3%,TT基因型频率为16.7%;对照组中CC基因型频率为41.2%,CT基因型频率为48.5%,TT基因型频率为10.3%。这种差异无统计学意义。患者与对照组之间等位基因分布也呈现相同趋势(P = 0.84)。荟萃分析结果显示,在显性模型(OR = 0.907;95% CI = 0.767 - 1.073;P = 0.25)、隐性模型(OR = 1.181;95% CI = 0.973 - 1.434;P = 0.093)和等位基因对比模型(OR = 1.098;95% CI = 0.972 - 1.240;P = 0.133)中,ABCB1 C3435T多态性与乳腺癌风险增加无关。然而,按种族进行的研究分层显示,TT基因型与亚洲人(OR = 1.405;95% CI = 1.145 - 1.725;P = 0.001)、白种人(OR = 1.093;95% CI = 1.001 - 1.194;P = 0.048)和北非人群(OR = 2.028;95% CI = 1.220 - 3.371;P = 0.006)的乳腺癌风险相关。

结论

我们注意到C3435T变异对乳腺癌风险的影响因种族而异。然而,没有证据表明ABCB1 C3435T多态性在摩洛哥乳腺癌易感性中起作用。需要进一步开展更大样本量并扩展到其他多态性的研究,以了解ABCB1基因变异对乳腺癌风险的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe2b/5007843/bd702f775339/12863_2016_434_Fig1_HTML.jpg

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