CAJ | 학술논문

目的检测前期GWAS研究中差异最显著的三个位点多态性与黑龙江地区汉族女性乳腺癌发病相关性.方法收集150例乳腺癌患者和300例年龄匹配且无乳腺癌家族史的健康体检者一般临床资料和5 ml外周静脉血,提取基因组DNA,PCR/sequencing方法基因分型,统计并比较两组研究对象各等位基因频率及基因型频率.结果各位点乳腺癌组和对照组的基因型分布均符合Hardy-Weinberg 遗传平衡定律(P>0.05);rs3006663,rs737495等位基因频率分布及基因型检测差异无统计学意义(P>0.05);rs6551328基因型分布在病例对照组中差异有统计学意义(P<0.05),相对于CC基因型,CT杂合基因型的风险值OR=1.776,95%CI为1.155~2.728,提示该位点CT基因型是乳腺癌发病的风险因素.结论 rs6551328多态性与在黑龙江汉族女性乳腺癌发病相关.
목적 검측전기GWAS연구중차이최현저적삼개위점다태성여흑룡강지구한족녀성유선암발병상관성.방법 수집150례유선암환자화300례년령필배차무유선암가족사적건강체검자일반림상자료화5 ml외주정맥혈,제취기인조DNA,PCR/sequencing방법기인분형,통계병비교량조연구대상각등위기인빈솔급기인형빈솔.결과 각위점유선암조화대조조적기인형분포균부합Hardy-Weinberg 유전평형정률(P>0.05);rs3006663,rs737495등위기인빈솔분포급기인형검측차이무통계학의의(P>0.05);rs6551328기인형분포재병례대조조중차이유통계학의의(P<0.05),상대우CC기인형,CT잡합기인형적풍험치OR=1.776,95%CI위1.155~2.728,제시해위점CT기인형시유선암발병적풍험인소.결론 rs6551328다태성여재흑룡강한족녀성유선암발병상관.
Objective To analyze the correlation of three most significant loci polymorphism from preliminary GWAS results and the attack of Breast Cancer in female of Han group in Heilongjiang province.Methods 150 breast cancer patients and 300 cases of age matched healthy controls without breast cancer were recruited from clinic. General clinical data and 5 ml peripheral venous blood from each cases were colected. Genomic DNA was extracted by kit. PCR/sequencing was used for genotyping. Alele frequency and genotype frequency was analyzed for comparison in both groups.Results The genotype frequency distribution of each loci in case and control groups conformed to the Hardy-Weinberg genetic balance law. Statistical difference was not detected in alele frequency and genotype frequency of rs3006663 and rs737495(P>0.05). Genotype distribution of rs6551328 showed significant difference in both groups(P<0.05). Compared with CC genotype,the OR value of CT genotypes was 1.776, 95%CI was 1.155~2.728, suggested that CT genotypes might be the risk factor of breast cancer. Conclusion rs6551328 loci polymorphism associated with the attack of Breast Cancer in female of Han group in Heilongjiang province