Identification of a FAS/FASL haplotype associated with endometriosis in Iranian patients

Abstract

Risk factors for ovarian cancer include a number of genetic variants as well as endometriosis. The FAS–FASL system is one of the apoptotic pathways that play an essential role in the apoptotic process within the endometrium. Here, we evaluate the correlation between FAS–FASL polymorphisms with the risk of endometriosis in Iranian patients and healthy controls. We extracted DNA from whole blood samples using a DNA Purification Kit. Using the PCR-RFLP method, three SNPs, including FAS (-670 A/G) and FASL (-844 C/T and _124G/A) genes, were genotyped in 112 patients with endometriosis as well as 110 healthy controls. The frequency of genotypes and the alleles of these SNPs were analyzed by the chi-squared test for the significant association. Haplotype analysis was done by the PLINK software. The frequency distribution of haplotypes was significant between SNPs so that the ACG haplotype was more frequent in the cases than in the controls (p = .017). These results indicate that haplotype analysis can be useful for SNP analysis. The ACG haplotypes in FAS-670A/G, FASL-844C/T, and _124G/A genes may be correlated with the progression of endometriosis.

摘要

卵巢癌的危险因素包括许多遗传变异因素以及子宫内膜异位症。 FAS–FASL系统是凋亡途径之一, 在子宫内膜的凋亡过程中起着至关重要的作用。在这里, 我们评估了FAS–FASL多态性与伊朗患者和健康对照者子宫内膜异位症风险之间的相关性。我们使用DNA纯化试剂盒从全血样品中提取了DNA。使用PCR-RFLP方法, 对112例子宫内膜异位患者和110名健康对照者的三个SNP, 包括FAS（-670A / G）和FASL（-844C / T和_124G / A）基因进行了基因分型。通过卡方检验分析了这些SNP的基因型频率和等位基因的显著相关性。单倍型分析是通过PLINK软件完成的。SNP之间的单倍型的频率分布是显著的, 因此与对照相比, 病例中的ACG单倍型更高频（p = .017）。这些结果表明, 单倍型分析可用于SNP分析。 FAS-670A / G, FASL-844C / T和_124G / A基因中的ACG单倍型可能与子宫内膜异位症的进展相关。

The Chinese abstracts are translated by Prof. Dr. Xiangyan Ruan and her team: Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.

Keywords:

• Endometriosis
• FAS
• FASL
• polymorphism
• haplotype

Acknowledgements

The authors are grateful to the staff of research and clinical center for infertility and department t of immunology, Shahid Sadoughi University of medical sciences Yazd, Iran.

Disclosure statement

The authors declare no conflict of interest. This study was adapted from the thesis of an MSc student and was done in international campus, Shahid Sadoughi University of medical sciences Yazd, Iran.