The relationship between HLA-DRB1 allele polymorphism and breast cancer (BC) development is still unclear and needs further investigation.

To address this issue, we analyzed HLA-DRB1 allele frequency (AF) by sequence-based typing (SBT) in 47 patients from central Italy with BC and 156 sex and age-matched healthy controls. Two hundred ninety-seven individuals from the same region were utilized as historical controls. Pearson’s chi-square analysis with Yate’s correction or Fisher’s Exact test with Bonferroni’s correction, as appropriate, were used to compare HLA-DRB1 AF differences in patients and controls.

A total of 36 HLA-DRB1 alleles were identified. A detailed study showed that HLA-DRB1*11:01 and HLA-DRB1*10:01 alleles are significantly associated with increased BC risk. In particular, HLA-DRB1*11:01 AF was significantly higher in patients with BC than in healthy females and historical controls, even following Bonferroni’s correction (stage I-II BC patients vs historical controls p<0.00; stage III-IV BC patients vs female healthy controls p=0.025 and historical controls p<0.00). The HLA-DRB1*10:01 allele was also positively associated with BC as evidenced by a significantly higher AF in patients with BC than in healthy controls (BC patients stage I-II vs historical controls corrected p =0.01).

These results suggest that both HLA-DRB1*11:01 and HLA-DRB1*10:01 AF could represent interesting markers in patients at risk of developing BC.

HLA-DRB1等位基因多态性与乳腺癌（BC）发展之间的关系仍不清楚，需要进一步研究。

为了解决这个问题，我们通过基于序列的分型（SBT）分析了来自意大利中部BC省的47例患者以及156个性别和年龄匹配的健康对照者的HLA-DRB1等位基因频率（AF）。来自同一地区的279个人被用作历史对照。皮尔逊（Pearson）的卡方分析和雅特（Yate）的校正或费舍尔精确检验（Fisher's Exact test）以及邦费罗尼（Bonferroni）校正，用于比较患者和对照组的HLA-DRB1 AF差异。

总共鉴定出36个HLA-DRB1等位基因。一项详细的研究表明，HLA-DRB1 * 11：01和HLA-DRB1 * 10：01等位基因与BC风险增加显着相关。特别是，即使在Bonferroni校正后，BC患者的HLA-DRB1 * 11：01 AF也显着高于健康女性和历史对照组（I-II BC期患者与历史对照p <0.00； III-IV BC期患者与女性健康对照相比p = 0.025，而历史对照p <0.00）。HLA-DRB1 * 10：01等位基因也与BC呈正相关，这是由BC病患的房颤明显高于健康对照组所证实的（I-II期BC病患对历史对照组的校正p = 0.01）。

这些结果表明，HLA-DRB1 * 11：01和HLA-DRB1 * 10：01 AF可以代表处于患BC风险的患者的有趣标记。