黄凤丹,张云云,严志凌,张新文,张芍,梁燕,李传印,姚宇峰,刘伟鹏
HUANG Fengdan,ZHANG Yunyun,YAN Zhiling,ZHANG Xinwen,ZHANG Shao,LIANG Yan,LI Chuanyin,YAO Yufeng,LIU Weipeng

• 1:中国科学院昆明植物研究所
• 2:中国医学科学院&北京协和医学院医学生物学研究所
• 3:昆明医科大学第三附属医院妇科
• 4:云南开放大学健康护理学院

摘要(Abstract)：

目的 探究CLPTM1L基因的单核苷酸多态性(SNP)位点(rs27069、rs27070、rs27071及rs27996)和PAX8基因SNP位点(rs4849177、rs10175462)与云南汉族人群宫颈上皮内瘤变(CIN)和宫颈癌发生风险的相关性。方法 在1 014例健康对照组(Control组)样本、516例宫颈上皮内瘤变组(CIN组)样本以及953例宫颈癌组(CC组)样本中对rs27069、rs27070、rs27071、rs27996、rs4849177及rs10175462位点进行基因分型，SHEsis软件分析6个SNP位点等位基因和基因型频率在各组中的差异，χ~2检验检测所构建的单倍型在各组之间的分布频率差异，Bonferroni法进行多重比较校正。结果 CLPTM1L基因的4个SNP位点(rs27069、rs27070、rs27071及rs27996)和PAX8基因的2个SNP(rs4849177、rs10175462)的等位基因频率、基因型频率及单倍型频率在各组之间的分布差异无统计学意义(P>0.05)。结论 CLPTM1L基因SNP位点(rs27069、rs27070、 rs27071及rs27996)和PAX8基因的SNP位点(rs4849177、rs10175462)与云南汉族人群CIN和宫颈癌的发生风险的不相关。
Objective To investigate the association of single nucleotide polymorphism(SNP) loci in CLPTM1L and PAX8 genes with cervical intraepithelial neoplasia(CIN) and cervical cancer(CC) in Yunnan Han population. Methods Genotyping of rs27069, rs27070, rs27071, rs27996, rs4849177 and rs10175462 in 1 014 healthy controls(Control), 516 cervical intraepithelial neoplasia(CIN) and 953 cervical cancer(CC), SHEsis software analysis of the differences of six SNP alleles and genotype frequencies in each group, The χ~2 test detects the difference in the distribution frequency of the constructed haplotypes among the three groups, Bonferroni method was corrected for multiple comparisons. Results The distribution of allele frequencies, genotype frequencies and haplotype frequencies of the four SNP sites(rs27069, rs27070, rs27071, and rs27996) and the two SNP(rs4849177, rs10175462) of PAX 8 genes were not significantly different among the groups(P> 0.05). Conclusion Four SNP loci(rs27069, rs27071, rs27070,and rs27996) in the CLPTM1L genes and two SNP loci(rs4849177 and rs10175462) in the PAX8 genes are not associated with the risk of cervical intraepithelial neoplasia(CIN) and cervical cancer(CC) in Yunnan Han population.

关键词(KeyWords)： 宫颈癌;CLPTM1L;PAX8;单核苷酸多态性;云南汉族人群
cervical cancer;CLPTM1L;PAX8;single nucleotide polymorphism;Yunnan Han population

Abstract:

Keywords:

基金项目(Foundation): 国家自然科学基金青年项目(82103190);; 云南省基础研究计划青年项目(202101AU070191);; 云南省教育厅科学研究基金(2022J0602)

作者(Author): 黄凤丹,张云云,严志凌,张新文,张芍,梁燕,李传印,姚宇峰,刘伟鹏
HUANG Fengdan,ZHANG Yunyun,YAN Zhiling,ZHANG Xinwen,ZHANG Shao,LIANG Yan,LI Chuanyin,YAO Yufeng,LIU Weipeng

DOI: 10.19367/j.cnki.2096-8388.2024.10.003

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