DNA repair gene XRCC1 Arg399Gln polymorphism is associated with increased risk of uterine leiomyoma
DNA repair gene XRCC1 Arg399Gln polymorphism is associated with increased risk of uterine leiomyoma
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DOI：
10.1093/humrep/deh836
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发表时间：
2005-06-01
影响因子：
6.1
通讯作者：
Lee, HP
中科院分区：
文献类型：
--
作者：
Jeon, YT;Kim, JW;Lee, HP
背景：DNA修复基因XRCC1 Arg399Gln多态性与几种人类肿瘤的风险相关。在本研究中，我们研究了XRCC1多态性是否与子宫平滑肌瘤的风险有关，子宫平滑肌瘤是女性生殖道最常见的肿瘤。方法：选取327例子宫平滑肌瘤患者和197例正常对照，采用PCR和限制性内切片段长度多态性检测XRCC1基因型。结果：399Arg等位基因纯合子、399Gln等位基因杂合子和纯合子的比例在对照组分别为85.8%、13.7%和0.5%，在平滑肌瘤组分别为46.2%、53.2%和0.6% （P < 0.001）。Logistic回归分析（在调整了年龄、胎次、初月经年龄和体重指数后）显示，Arg/Gln基因型女性患子宫平滑肌瘤的风险显著高于Arg/Arg基因型女性（优势比6.79；95%可信区间4.20-10.99;P < 0.001）。结论：在韩国女性中，XRCC1的399Gln多态性与子宫平滑肌瘤的风险增加有关。
BACKGROUND: DNA repair gene XRCC1 Arg399Gln polymorphism has been associated with the risk of several human tumours. In the present study we investigated whether the XRCC1 polymorphism is related to the risk of uterine leiomyoma, the most common neoplasm of the female genital tract. METHODS: Three hundred and twenty-seven patients with uterine leiomyoma and 197 normal controls were enrolled, and XRCC1 genotyping was determined by PCR and restriction fragment length polymorphism. RESULTS: The proportions of individuals homozygous for 399Arg allele, heterozygous and homozygous for the 399Gln allele were 85.8%, 13.7% and 0.5% among the control group, and 46.2%, 53.2% and 0.6% in those with leiomyoma (P < 0.001), respectively. Logistic regression analysis (after adjusting for age, parity, menarche age and body mass index) showed a significant increased risk of uterine leiomyoma in women with the Arg/Gln genotype versus the Arg/Arg genotype (odds ratio 6.79; 95% confidence interval 4.20-10.99; P < 0.001). CONCLUSIONS: In Korean women, the 399Gln polymorphism of XRCC1 is associated with an increased risk of uterine leiomyoma.