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CYP24A1 基因多态性与佳木斯人群结直肠癌的相关性研究。

Association of CYP24A1 gene polymorphism with colorectal cancer in the Jiamusi population.

机构信息

The First Affiliated Hospital of Jiamusi University, Heilongjiang, P.R. China.

The Key Laboratory of Geriatrics, Beijing Institute of Geriatrics, Beijing Hospital, National Center of Gerontology, National Health Commission, Beijing, P.R. China.

出版信息

PLoS One. 2021 Jun 30;16(6):e0253474. doi: 10.1371/journal.pone.0253474. eCollection 2021.

Abstract

BACKGROUND

The population in Jiamusi has been reported to have the highest prevalence of colorectal cancer (CRC) in China. The genetic causal-effect for this occurrence among the residents remains unclear. Given the long cold seasons with people wearing more clothes and reduced UV exposure, we aimed to study the association between the vitamin D metabolism-related gene CYP24A1 polymorphism and CRC susceptibility.

METHOD

A case-control study was conducted that included 168 patients with CRC and 710 age-matched healthy individuals as the control group. Plausible susceptible variations were sought and clinical phenotypic-genotype association analysis was performed.

RESULTS

Overall, two CYP24A1 polymorphisms, rs6013905 AX (P = 0.02, OR = 1.89, 95%CI: 1.09-3.29) and rs2762939 GX (P = 0.02, OR = 1.52, 95%CI: 1.08-2.13) were significantly associated with CRC in the Jiamusi population. In the female group, three CYP24A1 polymorphisms, rs6013905 AX (P = 0.04, OR = 2.59, 95%CI: 1.03-6.49), rs2762939 GX (P = 0.01, OR = 2.35, 95%CI: 1.25-4.42), and rs6068816 GG (P = 0.05, OR = 1.89, 95%CI: 0.99-3.59) carriers were significantly associated with CRC. In clinical phenotypic-genotype analysis, rs6013905 GG (P = 0.05, OR = 4.00, 95%CI: 0.92-17.48) and rs2762939 GX (P = 0.03, OR = 4.87, 95%CI: 1.00-23.69) carriers were significantly associated with poorly differentiated CRC, while CYP24A1 rs6068816 AX was significantly associated with the tumor type (P = 0.02, OR = 2.08, 95%CI: 1.10-3.96) and location (P = 0.04, OR = 2.24, 95%CI: 1.05-4.77).

CONCLUSION

CYP24A1 gene polymorphism may be a genetic risk factor attributable to the highest prevalence of CRC in Jiamusi people. Individuals with CYP24A1 gene polymorphism may have an increased barrier for vitamin D absorption, thus contributing to the risk of CRC development.

摘要

背景

据报道,佳木斯人群的结直肠癌(CRC)患病率居中国首位。当地居民中这种情况的遗传因果关系仍不清楚。鉴于漫长的寒冷季节,人们穿着更多的衣服,紫外线暴露减少,我们旨在研究维生素 D 代谢相关基因 CYP24A1 多态性与 CRC 易感性之间的关联。

方法

进行了一项病例对照研究,包括 168 例 CRC 患者和 710 名年龄匹配的健康个体作为对照组。寻找可能的易感变异,并进行临床表型-基因型关联分析。

结果

总体而言,CYP24A1 中的两个多态性 rs6013905 AX(P=0.02,OR=1.89,95%CI:1.09-3.29)和 rs2762939 GX(P=0.02,OR=1.52,95%CI:1.08-2.13)与佳木斯人群的 CRC 显著相关。在女性组中,CYP24A1 中的三个多态性 rs6013905 AX(P=0.04,OR=2.59,95%CI:1.03-6.49)、rs2762939 GX(P=0.01,OR=2.35,95%CI:1.25-4.42)和 rs6068816 GG(P=0.05,OR=1.89,95%CI:0.99-3.59)携带者与 CRC 显著相关。在临床表型-基因型分析中,rs6013905 GG(P=0.05,OR=4.00,95%CI:0.92-17.48)和 rs2762939 GX(P=0.03,OR=4.87,95%CI:1.00-23.69)携带者与低分化 CRC 显著相关,而 CYP24A1 rs6068816 AX 与肿瘤类型(P=0.02,OR=2.08,95%CI:1.10-3.96)和位置(P=0.04,OR=2.24,95%CI:1.05-4.77)显著相关。

结论

CYP24A1 基因多态性可能是佳木斯人群 CRC 患病率最高的遗传危险因素。CYP24A1 基因多态性个体可能对维生素 D 吸收存在更高的障碍,从而增加 CRC 发病风险。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/85fe/8244863/cbc6234d65c6/pone.0253474.g001.jpg

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