Department of Immunology, Harbin Medical University, 150081, Harbin, China.
Breast Cancer Res Treat. 2010 Feb;120(1):195-202. doi: 10.1007/s10549-009-0462-6. Epub 2009 Jul 8.
B and T lymphocyte attenuator (BTLA) is an immunoinhibitory receptor with the ability to deliver inhibitory signals for suppressing lymphocyte activation. To identify the influences of BTLA gene polymorphisms on the risk of sporadic breast cancer, a case-control study was conducted in women from northeast of China, Heilongjiang Province. We genotyped five SNPs (rs9288952, rs2931761, rs2633562, rs2705535 and rs1844089) in BTLA gene among exons and introns. Our research groups consist of 592 patients with breast cancer and 506 age/sex-matched healthy controls. Genotypes were determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and polymerase chain reaction with confronting two-pair primer (PCR-CTPP) methods. Data were analyzed using the chi-square test by EXCEL, SPSS and Haploview softwares. The frequencies of BTLA rs1844089 CT and rs2705535 AG were higher in patients than in controls (P = 0.0164; P = 0.0031), and rs1844089 CC, rs2705535 GG and rs9288952 CC genotypes had lower incidences in patients than in controls (P = 0.0483; P = 0.0098; P = 0.0400). The frequency of haplotype CAAAT was significantly higher in patients (P = 0.0112). Strong association was shown between five SNPs of BTLA gene and tumor size, estrogen receptor (ER), progesterone receptor (PR), C-erbB-2 and P53 statuses. Strong association was observed between tumor size, ER, PR, P53 and the CAGAT(P = 0.012), TAAGT(P = 0.0378), CAGAT(P = 0.0013), CAAGT(P = 0.0373) and CAAAT(P = 0.0306) haplotypes. These results primarily suggested that BTLA gene polymorphisms may affect the sporadic breast cancer risk and prognosis in Chinese women in northeast of Heilongjiang Province.
B 和 T 淋巴细胞衰减器（BTLA）是一种具有抑制性信号传递能力的免疫抑制受体，可抑制淋巴细胞的激活。为了确定 BTLA 基因多态性对散发性乳腺癌风险的影响，我们在中国东北地区黑龙江省进行了一项病例对照研究。我们对 BTLA 基因的外显子和内含子中的 5 个 SNP（rs9288952、rs2931761、rs2633562、rs2705535 和 rs1844089）进行了基因分型。我们的研究小组由 592 名乳腺癌患者和 506 名年龄/性别匹配的健康对照组成。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和聚合酶链反应-对比双引物（PCR-CTPP）方法测定基因型。使用 EXCEL、SPSS 和 Haploview 软件进行卡方检验分析数据。BTLA rs1844089 CT 和 rs2705535 AG 的频率在患者中高于对照组（P = 0.0164；P = 0.0031），rs1844089 CC、rs2705535 GG 和 rs9288952 CC 基因型在患者中的发生率低于对照组（P = 0.0483；P = 0.0098；P = 0.0400）。患者中 CAAAT 单倍型的频率明显较高（P = 0.0112）。BTLA 基因的 5 个 SNP 与肿瘤大小、雌激素受体（ER）、孕激素受体（PR）、C-erbB-2 和 P53 状态之间存在显著相关性。肿瘤大小、ER、PR、P53 与 CAGAT（P = 0.012）、TAAGT（P = 0.0378）、CAGAT（P = 0.0013）、CAAGT（P = 0.0373）和 CAAAT（P = 0.0306）单倍型之间存在强关联。这些结果初步表明，BTLA 基因多态性可能影响中国黑龙江省东北部地区女性散发性乳腺癌的发病风险和预后。
