Gapska P, Scott R J, Serrano-Fernandez P, Huzarski T, Byrski T, Kładny J, Gronwald J, Górski B, Cybulski C, Lubinski J, Debniak T
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Połabska 4, 70-115, Szczecin, Poland.
Breast Cancer Res Treat. 2009 Jun;115(3):629-33. doi: 10.1007/s10549-008-0107-1. Epub 2008 Jun 29.
The aim of the study was to determine whether four VDR gene single nucleotide polymorphisms (SNPs: rs1544410, rs731236, rs10735810 and rs4516035) are associated with breast cancer risk in Polish population. Two independent series of female patients were employed: 960 consecutive breast cancer cases, and 800 unselected early onset cases diagnosed under the age of 51. The control group for the consecutive breast cancer cases consisted of 960 healthy, age-matched women with a negative cancer family history. 550 healthy women, aged 51 or less, with negative cancer family history were selected as the independent controls for the early onset breast cancer cases. The frequencies of the VDR polymorphisms in the unselected cases when compared to the respective control population failed to reveal any association between the individual SNPs and disease. Examination of the group of early-onset patients, revealed an association between rs10735810 and increased breast cancer risk. Heterozygous carriers for the change had an OR = 1.73 (95% CI 1.33-2.26, P < 0.0001) and homozygous carriers OR = 2.34 (95% CI 1.71-3.21, P < 0.0001). The remaining three examined SNPs failed to show any association with disease risk. In summary, this study has identified an association between the VDR gene and early onset breast cancer risk in the Polish population.
本研究的目的是确定四个维生素D受体（VDR）基因单核苷酸多态性（SNPs：rs1544410、rs731236、rs10735810和rs4516035）是否与波兰人群的乳腺癌风险相关。采用了两个独立的女性患者系列：960例连续的乳腺癌病例，以及800例51岁以下未经过筛选的早发性病例。连续乳腺癌病例的对照组由960名健康、年龄匹配且无癌症家族史的女性组成。550名年龄在51岁及以下、无癌症家族史的健康女性被选为早发性乳腺癌病例的独立对照组。与各自的对照人群相比，未经过筛选的病例中VDR多态性的频率未能揭示任何单个SNP与疾病之间的关联。对早发性患者组的检查发现，rs10735810与乳腺癌风险增加之间存在关联。该变化的杂合子携带者的优势比（OR）=1.73（95%置信区间[CI]为1.33 - 2.26，P < 0.0001），纯合子携带者的OR = 2.34（95% CI为1.71 - 3.21，P < 0.0001）。其余三个检测的SNP未能显示与疾病风险有任何关联。总之，本研究确定了波兰人群中VDR基因与早发性乳腺癌风险之间的关联。
