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ICAM-1 基因变异 rs5498(1462A>G)与非梗阻性无精子症的关联。

Association of ICAM-1 gene variant rs5498 (1462A>G) with non-obstructive azoospermia.

机构信息

Department of Physiology, King Saud University, Riyadh, Kingdom of Saudi Arabia.

Department of Clinical and Chemical Pathology, Faculty of Medicine, Suez Canal University, Ismailia, Egypt.

出版信息

Hum Fertil (Camb). 2020 Dec;23(4):234-238. doi: 10.1080/14647273.2019.1566646. Epub 2019 Feb 1.

Abstract

The blood testicular barrier (BTB) is a barrier protecting the testes from damage. It also plays an important role in spermatogenesis. The intracellular adhesion molecule-1 (ICAM-1) is a member of the immunoglobulin cell adhesion molecule family and is a constituent component of the BTB. This study was carried out to investigate the association between the single nucleotide polymorphism (SNP) rs5498 in the ICAM-1 gene and non-obstructive azoospermia. A total of 100 male patients with non-obstructive azoospermia and 100 fertile males (healthy control) were included in this study. Genotyping of ICAM-1 gene rs5498 was performed using polymerase chain reaction-restriction enzyme fragment length polymorphism (PCR-RFLP). Both AG and GG genotypes were significantly more prevalent among the infertile men compared to the control group ( < 0.001). The odds ratio (OR) for the polymorphic allele (G) was 2.4 with 95% confidence interval from 1.38 to 3.19 ( < 0.001). The study shows that ICAM-1 rs5498 (1462A>G) SNP is positively associated with an increased risk for obstructive azoospermia, with the genotype AG heterozygotes showing a significantly higher frequency among infertile men.

摘要

血睾屏障(BTB)是一种保护睾丸免受损伤的屏障。它在精子发生中也起着重要作用。细胞间黏附分子-1(ICAM-1)是免疫球蛋白细胞黏附分子家族的一员,是 BTB 的组成部分。本研究旨在探讨 ICAM-1 基因中单核苷酸多态性(SNP)rs5498 与非梗阻性无精子症之间的关系。本研究共纳入 100 例非梗阻性无精子症男性患者和 100 例生育男性(健康对照组)。采用聚合酶链反应-限制性内切酶片段长度多态性(PCR-RFLP)方法对 ICAM-1 基因 rs5498 进行基因分型。与对照组相比,不育男性中 AG 和 GG 基因型明显更为常见(<0.001)。多态性等位基因(G)的优势比(OR)为 2.4,95%置信区间为 1.38 至 3.19(<0.001)。该研究表明,ICAM-1 rs5498(1462A>G)SNP 与梗阻性无精子症的风险增加呈正相关,AG 杂合子在不育男性中的频率明显更高。

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