线粒体DNA4个多态性与宁夏汉族乳腺癌无相关性

 目的 探讨线粒体DNA（mtDNA）np16 189、np16 223、np16 519和D310区多态性及其交互作用与宁夏汉族乳腺癌及其临床病理特征的相关性。方法 用病例-对照法和聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测195例乳腺癌患者和196例健康体检者各位点基因型，计算基因型频率，用χ2和OR（Odds ratio）检验分析单个、多个位点联合与乳腺癌的相关性，并分析各位点的基因型频率与乳腺癌临床病理特征的相关性。结果 1）mtDNA np16 189、np16 223和np16 519 3个位点的基因型频率在病例组和对照组中的分布无差异；D310区三种基因型在病例组高于对照组（OR=6. 6629，P＞0.05），携带异质型的个体发生乳腺癌的危险性比携带突变型个体低（OR=0.216，95%CI为0.058～0.809）。2）4个多态性位点之间的交互作用在两组间无差异。3）4个多态性位点与乳腺癌临床病理特征间无相关性。结论 mtDNA np16 189、np16 223、np16 519和D310区及其交互作用与宁夏汉族乳腺癌无相关性。

Mitochondrial DNA 4 polymorphisms have no relation to breast cancer in Ningxia Han Population

Objective To study the correlation of mitochondrial DNA(mtDNA) np16 189、np16 223、np16 519 and D310 region polymorphisms as well as its interaction effects with breast cancer and its pathological features in Ningxia Han population. Method Based on case-control study design, polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) was used to analyze the genotype and genotype frequency of the four polymorphisms of mtDNA among 195 sporadic breast cancer patients and 196 healthy controls from Ningxia Hui Autonomous Region. Chi-square test and odds ratio were used to analyze the correlation between each SNP and their interaction effects with breast cancer and pathological features. Result 1）The genotype frequency distribution differences of np16189、np16223 and np16519 between case and control group were show no significance (p＞0.05); There was significant difference of the three genotypes distribution of D310 region between case and control group (χ2=6.629, P＜0.05), individual who carry heterogeneous genotype has a lower risk to breast cancer than those carry mutant genotype (OR=0.216, 95%CI is 0.058～0.809). 2）There were no significant difference of the interactions of the four polymorphisms between case and control group (P＞0.05). 3）There were no significance difference between four polymorphisms and pathological features of breast cancer (P＞0.05). Conclusion There is no association between mitochondrial DNA(mtDNA) np16 189、np16 223、np16 519 and D310 region polymorphisms and breast cancer in Ningxia Hui Autonomous Region.