Sombal Wafa, Khan Najeeb Ullah, Khan Bibi Maryam, Ismail Muhammad, Almutairi Mikhlid H, Khan Samiullah, Khan Aakif Ullah, Mustafa Adeela, Iftikhar Bushra, Ali Ijaz
Institute of Biotechnology & Genetic Engineering (Health Division) The University of Agriculture Peshawar Peshawar Pakistan.
School of Life Science Jiangsu University Zhejiang Jiangsu Province People's Republic of China.
Health Sci Rep. 2024 Feb 4;7(2):e1846. doi: 10.1002/hsr2.1846. eCollection 2024 Feb.
Breast cancer is the most common type of cancer in women. The genetic polymorphism in HER (-rs11543848 and -rs1136201) were found to be associated with breast cancer risk in different ethnicities worldwide with inconsistent results. The aim of this research study was to evaluate the association of -rs11543848 and -rs1136201 polymorphisms as a risk of breast cancer in Pashtun population of Khyber Pakhtunkhwa, Pakistan.
A total of 314 women including 164 breast cancer patients and 150 age and gender-matched healthy controls were enrolled from June 2021 to May 2022. All the samples were subjected to DNA extraction followed by Tetra-ARMS-PCR for genotyping and gel electrophoresis.
Our results indicated that -rs11543848 risk allele A ( = 0.0001) and heterozygous genotype GA ( = 0.0001) displayed highly significant association with breast cancer, while the homozygous mutant genotype AA indicated association but nonsignificant results (odds ratio [OR] = 2.637, 95% confidence interval [CI] = 1.2258-5.6756, = 0.0833). Similarly, the -rs1136201 risk allele G ( = 0.0023), the heterozygous genotype AG ( = 0.0530) and homozygous mutant genotype GG showed significant association (OR = 2.5946, 95% CI = 0.9876-6.8165, = 0.0530) with breast cancer risk. Both the SNPs presented a higher but nonsignificant risk of breast cancer in postmenopausal women (OR = 2.242, = 0.08 and OR = 2.009, = 0.06). However, both the SNPs showed significant association ( < 0.005) with family history, metastasis, stage, luminal B, and TNBC.
In conclusion, -rs11543848 and -rs1136201 polymorphisms are significantly associated with the higher risk of breast cancer in Pashtun population of Khyber Pakhtunkhwa, Pakistan. These findings advocate for further exploration with larger datasets, offering promising avenues for personalized approaches in breast cancer research and potentially enhancing clinical practices for better risk assessment and targeted management strategies.
乳腺癌是女性中最常见的癌症类型。已发现HER基因的多态性（-rs11543848和-rs1136201）与全球不同种族的乳腺癌风险相关，但结果不一致。本研究的目的是评估-rs11543848和-rs1136201多态性作为巴基斯坦开伯尔-普赫图赫瓦省普什图族人群患乳腺癌风险的相关性。
2021年6月至2022年5月，共招募了314名女性，其中包括164名乳腺癌患者和150名年龄及性别匹配的健康对照。所有样本均进行DNA提取，然后采用四引物扩增受阻突变系统聚合酶链反应（Tetra-ARMS-PCR）进行基因分型和凝胶电泳。
我们的结果表明，-rs11543848风险等位基因A（P = 0.0001）和杂合基因型GA（P = 0.0001）与乳腺癌呈高度显著相关性，而纯合突变基因型AA显示出相关性但结果不显著（优势比[OR] = 2.637，95%置信区间[CI] = 1.2258 - 5.6756，P = 0.0833）。同样，-rs1136201风险等位基因G（P = 0.0023）、杂合基因型AG（P = 0.0530）和纯合突变基因型GG与乳腺癌风险呈显著相关性（OR = 2.5946，95% CI = 0.9876 - 6.8165，P = 0.0530）。这两个单核苷酸多态性（SNP）在绝经后女性中均呈现出较高但不显著的乳腺癌风险（OR = 2.242，P = 0.08和OR = 2.009，P = 0.06）。然而，这两个SNP与家族史、转移、分期、管腔B型和三阴性乳腺癌（TNBC）均显示出显著相关性（P < 0.005）。
总之，-rs11543848和-rs1136201多态性与巴基斯坦开伯尔-普赫图赫瓦省普什图族人群患乳腺癌的较高风险显著相关。这些发现主张使用更大的数据集进行进一步探索，为乳腺癌研究中的个性化方法提供了有前景的途径，并可能改善临床实践以实现更好的风险评估和靶向管理策略。
