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卵巢癌中基因Val158Met多态性的研究

Investigation of gene Val158Met polymorphism in ovarian cancer.

作者信息

Abaoğlu İpek Yağmur, Güleç Yılmaz Seda, Akdeniz Fatma Tuba, Attar Rukset, Barut Zerrin, Dalan Altay Burak, İsbir Turgay

机构信息

Department of Molecular Medicine, Institute of Health Sciences, Yeditepe University, İstanbul, Turkey

Department of Medical Biology, Yeditepe University Faculty of Medicine, İstanbul, Turkey

出版信息

J Turk Ger Gynecol Assoc. 2021 Feb 24;22(1):42-46. doi: 10.4274/jtgga.galenos.2020.2020.0091. Epub 2021 Jan 4.

Abstract

OBJECTIVE

Catechol-O-methyltransferase (COMT), the product of the gene, detoxifies the carcinogenic catechol estrogens. The aim of the present study was to examine the relationship between polymorphism and the risk of ovarian cancer.

MATERIAL AND METHODS

The study groups consist of 94 individuals as a patients group with ovarian cancer (n=47) and control group (n=47). The allele and genotype frequencies were determined according to Hardy-Weinberg equilibrium (HWE). The allele and genotype frequencies. determined according to HWE. Genetic analysis were performed by real-time-polymerase chain reaction instrument, and the statistical analysis were performed by SPSS program.

RESULTS

Although no significant relationship was obtained among groups (p=0.413) regarding gene Val158Met polymorphism, the genotype frequencies for COMT Val158Met (rs4860) polymorphism in groups was homozygote wild type GG genotype 25.5%, heterozygote GA genotype 46.8%, homozygote mutant AA genotype 27.7%.

CONCLUSION

This study is the first to investigate the relationship between ovarian cancer and the polymorphism in the gene in a Turkish population. No statistically significant relationship was identified among genotypes belonging to the patient and control groups although sample sizes were relatively small and the analysis should be repeated in a larger cohort.

摘要

目的

儿茶酚 - O - 甲基转移酶(COMT)是该基因的产物,可使致癌性儿茶酚雌激素解毒。本研究的目的是探讨该基因多态性与卵巢癌风险之间的关系。

材料与方法

研究组由94名个体组成,其中47例为卵巢癌患者组,47例为对照组。根据哈迪 - 温伯格平衡(HWE)确定等位基因和基因型频率。等位基因和基因型频率根据HWE确定。通过实时聚合酶链反应仪进行基因分析,并通过SPSS程序进行统计分析。

结果

尽管在基因Val158Met多态性方面各组之间未获得显著关系(p = 0.413),但各组中COMT Val158Met(rs4860)多态性的基因型频率为纯合野生型GG基因型25.5%,杂合子GA基因型46.8%,纯合突变型AA基因型27.7%。

结论

本研究首次在土耳其人群中调查卵巢癌与该基因多态性之间的关系。尽管样本量相对较小且应在更大的队列中重复分析,但在患者组和对照组的基因型之间未发现统计学上的显著关系。

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