Albdairi Hayder Abdulhadi Saleh, Colagar Abasalt Hosseinzadeh
Department of Molecular and Cell Biology, Faculty of Basic Science, University of Mazandaran, Babolsar, Iran.
Int J Reprod Biomed. 2025 Jun 10;23(3):251-264. doi: 10.18502/ijrm.v23i3.18776. eCollection 2024 Apr.
Hyaluronan-mediated motility receptor (HMMR) and Stabilin-2 (STAB2), known as extracellular matrix cell surface protein's receptors, bind to hyaluronic acid and lead to various cell functions.
The study aims to investigate the relationship between the -rs299295 (C T/ A485V) and -rs2271637 (C G/ L2401V) gene variants and the risk of prostate neoplasms in the Mazandaran population, North of Iran.
This study was conducted based on a case-control and approach. Genomic DNA was extracted from 598 intravenous blood samples, collected from 250 benign prostatic hyperplasia (case group I) and 250 malignant prostate (case group II) neoplasms as cases, and 98 healthy men as control. The -rs299295 and -rs2271637 genotypes were identified using the polymerase chain reaction-restriction fragment length polymorphism method. Bioinformatics analyses were conducted using PolyPhen-2, GOR IV, and GeneMANIA free web tools.
The study found that the mutant T allele in -rs299295 and the G allele in -rs2271637 are associated with an increased risk of prostate neoplasm, including benign prostatic hyperplasia and prostate cancer (p 0.001). Bioinformatic analyses revealed structural changes and potential damage from these variants. The -A485V variant might impair interaction with family with sequence similarity 83 member D, and the -L2401V variant could disrupt domain 7 of FAS1, together they may affect the protein's physical interactions, especially with mitogen-activated protein kinase 1.
The mutant alleles of T in -rs299295 and the G in -rs2271637 may disrupt protein structures and probably contribute to prostate neoplasm progression.
透明质酸介导的运动受体（HMMR）和稳定素-2（STAB2）作为细胞外基质细胞表面蛋白的受体，可与透明质酸结合并引发多种细胞功能。
本研究旨在探讨伊朗北部马赞德兰人群中 -rs299295（C→T/A485V）和 -rs2271637（C→G/L2401V）基因变异与前列腺肿瘤风险之间的关系。
本研究采用病例对照研究方法。从598份静脉血样本中提取基因组DNA，这些样本分别来自250例良性前列腺增生患者（病例组I）、250例前列腺恶性肿瘤患者（病例组II）以及98名健康男性作为对照组。使用聚合酶链反应-限制性片段长度多态性方法鉴定 -rs299295和 -rs2271637基因型。利用PolyPhen-2、GOR IV和GeneMANIA免费网络工具进行生物信息学分析。
研究发现，-rs299295中的突变T等位基因和 -rs2271637中的G等位基因与前列腺肿瘤风险增加有关，包括良性前列腺增生和前列腺癌（p<0.001）。生物信息学分析揭示了这些变异导致的结构变化和潜在损害。-A485V变异可能会损害与序列相似性家族83成员D的相互作用，-L2401V变异可能会破坏FAS1的结构域7，它们共同可能会影响蛋白质的物理相互作用，尤其是与丝裂原活化蛋白激酶1的相互作用。
-rs299295中的T突变等位基因和 -rs2271637中的G突变等位基因可能会破坏蛋白质结构，并可能促进前列腺肿瘤的进展。
