细胞周期蛋白D1 G870A基因多态性与新疆维吾尔族及汉族女性乳腺癌易感性的关系

Association between cyclin D1 G870A polymorphism and breast cancer susceptibility of Uygur and Han nationalities in Xinjiang

目的 探讨细胞周期蛋白D1（CCND1）基因第4外显子870位点单核苷酸多态性在维吾尔族及汉族乳腺癌患者中的分布及其与乳腺癌易感性的关系。方法 根据纳入、排除标准,选取2012年1月至2014年12月就诊于新疆医科大学附属肿瘤医院的192例维吾尔族女性乳腺癌患者（维吾尔族乳腺癌组）、200例维吾尔族健康女性（维吾尔族健康对照组）、254例汉族女性乳腺癌患者（汉族乳腺癌组）和200例汉族健康女性（汉族健康对照组）进行前瞻性对照研究。应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测上述研究对象的CCND1 G870A基因多态性。CCND1 G870A基因型分布及等位基因频率的比较采用χ~2检验,并用非条件的Logistic回归分析该位点多态性与新疆维吾尔族、汉族乳腺癌易感性的关系。结果 CCND1 G870A基因GG、AG、AA基因型及G、A等位基因频率的分布在维吾尔族乳腺癌组与其健康对照组之间差异无统计学意义[GG、AG、AA基因型：18.7%（36/192）比16.0%（32/200）,52.1%（100/192）比49.5%（99/200）,29.2%（56/192）比34.5%（69/200）,χ~2=1.430,P=0.489;G、A等位基因频率：44.8%（172/384）比40.8%（163/400）,55.2%（212/384）比59.2%（237/400）,χ~2=1.308,P=0.253],在汉族乳腺癌组与其健康对照组之间差异也均无统计学意义[GG、AG、AA基因型：20.1%（51/254）比16.0%（32/200）、50.0%（127/254）比56.0%（112/200）、29.9%（76/254）比28.0%（56/200）,χ~2=1.925,P=0.382;G、A等位基因频率：45.1%（229/508）比44.0%（176/400）、54.9%（279/508）比56.0%（224/400）,χ~2=0.105,P=0.745]。无论是维吾尔族与汉族的乳腺癌组之间,还是维吾尔族与汉族的健康对照组之间,各基因型（χ~2=0.213,P=0.899;χ~2=0.007,P=0.932）及等位基因频率（χ~2=2.153,P=0.341;χ~2=0.865,P=0.352）分布的差异也均无统计学意义。在维吾尔族和汉族人群中,携带A等位基因者均不增加罹患乳腺癌的风险（A等位基因比G等位基因：OR=0.848,95%CI 0.639~1.125,P=0.253;OR=0.957,95%CI 0.735~1.246,P=0.745）。结论 CCND1 G870A基因多态性与新疆维吾尔族及汉族人群的乳腺癌易感性均无明显相关性。

Objective To investigate the distribution of single nucleotide polymorphism （SNP） at 870 position of exon 4 in cyclin D1 gene （ CCND1 ） and its relationship with susceptibility to breast cancer in patients of Uygur and Han nationalities. Methods According to the inclusion and exclusion criteria, we enrolled 192 breast cancer patients of Uygur nationality, 200 Uygur healthy controls, 254 breast cancer patients of Han nationality and 200 Han healthy controls, who all were treated in Tumor Hospital of Xinjiang Medical University from January 2012 to December 2014, for a prospective study. Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） method was used to detect the G870A polymorphism of CCND1 gene.CCND1 G870A genotype and allele frequency were compared by X2 test. The relationship between this polymorphism and breast cancer susceptibility in Uygur or Han population in Xinjiang was analyzed using nonconditional Logistic regression. Results The distribution of GG, AG, AA genotypes of CCND1 gene G870A and G/A allele frequency showed no significant difference between Uygur breast cancer patients and Uygurheahhy controls [GG, AG, AA genotypes： 18.7% （36/192） vs 16.0% （32/200）, 52.1% （100/192） vs 49.5% （99/200）, 29.2% （56/192） vs 34.5% （69/200）, x2 = 1.430, P=0.489; G/A allele frequency： 44. 8% （172/384） vs 40. 8% （163/400） , 55.2% （212/384） vs 59. 2% （237/400）, X2 = 1. 308, P = 0. 253 ]. The comparison between Han breast cancer patients and Han healthy controls showed the similar results [GG, AG, AA genotypes： 20. 1% （51/254） vs 16.0% （32/200）, 50.0% （127/254） vs 56. 0% （112/200）, 29. 9% （76/254） vs 28.0% （56/200）, x2 = 1. 925, P=0. 382; G/A allele frequency： 45.1% （229/508） vs 44. 0% （176/400）, 54. 9% （279/508） vs 56. 0% （224/400）, X2=0.105, P= 0. 745 ]. Whether Han or Uighur population, the differences in the genotype distribution （ x2 = 0. 213, P = 0. 899;x2 =0. 007 ,P=0. 932） and allele frequency （x2 =2. 153 ,P=0. 341 ;x2 =0. 865 ,P=0. 352） showed no significant difference between Uygur and Han breast cancer patients or between Uygur and Han healthy controls. Our finding showed no increased risk of breast cancer in the population carrying A allele in Uygur or Han population （ A allele vs G allele ： OR = 0. 848, 95 % CI 0. 639-1.125, P = 0. 253 ; OR = 0. 957,95 % CI 0. 735- 1. 246, P=0. 745）. Conclusion There is no significant association between CCND1 G870A polymorphism and breast cancer susceptibility in Uygur or Han population in Xinjiang.