Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
PLoS One. 2013;8(1):e53075. doi: 10.1371/journal.pone.0053075. Epub 2013 Jan 11.
Fas/Fas ligand (FasL) system is one of the key apoptotic signaling entities in the extrinsic apoptotic pathway. De-regulation of this pathway, i.e. by mutations may prevent the immune system from the removal of newly-formed tumor cells, and thus lead to tumor formation. The present study investigated the association between -1377 G/A (rs2234767) and -670 A/G (rs1800682) polymorphisms in Fas as well as single nucleotide polymorphisms INV2nt -124 A/G (rs5030772) and -844 C/T (rs763110) in FasL in a sample of Iranian patients with breast cancer. This case-control study was done on 134 breast cancer patients and 152 normal women. Genomic DNA was extracted from whole blood samples. The polymorphisms were determined by using tetra-ARMS-PCR method. There was no significant difference in the genotype distribution of FAS rs2234767 polymorphism between cases and controls. FAS rs1800682, FASL rs5030772, and FASL rs763110 genotypes showed significant associations with an increasing risk of breast cancer (odds ratio OR = 3.18, P = 0.019; OR = 5.08, P = 0.012; OR = 2.40, P = 0.024, respectively). In conclusion, FAS rs2234767 was not associated with breast cancer risk. Though, FAS rs1800682, FASL rs5030772, and FASL rs763110 polymorphisms were associated with the risk of breast cancer in the examined population.
Fas/Fas 配体（FasL）系统是外在凋亡途径中关键的凋亡信号实体之一。该途径的失调，即突变，可能会阻止免疫系统清除新形成的肿瘤细胞，从而导致肿瘤形成。本研究调查了 Fas 中的-1377 G/A（rs2234767）和-670 A/G（rs1800682）多态性以及 FasL 中的单核苷酸多态性 INV2nt-124 A/G（rs5030772）和-844 C/T（rs763110）在伊朗乳腺癌患者样本中的关联。这项病例对照研究共纳入了 134 名乳腺癌患者和 152 名正常女性。从全血样本中提取基因组 DNA。采用四等位基因扩增阻碍突变系统-PCR 法确定多态性。病例组和对照组之间 FAS rs2234767 多态性的基因型分布无显著差异。FAS rs1800682、FASL rs5030772 和 FASL rs763110 基因型与乳腺癌风险增加显著相关（比值比 OR=3.18，P=0.019；OR=5.08，P=0.012；OR=2.40，P=0.024）。总之，FAS rs2234767 与乳腺癌风险无关。然而，FAS rs1800682、FASL rs5030772 和 FASL rs763110 多态性与所研究人群的乳腺癌风险相关。
