Omar Salma Samir, Mahfouz Wally, Dawood Waleed, Abo El-Wafa Reham Abdel Haleem, Ghazala Rasha Abdelmawla, Zahran Abdel-Rahman Mahmoud
Department of Dermatology, Venereology & Andrology, Alexandria University, Alexandria, Egypt.
Department of Urology, Alexandria University, Alexandria, Egypt.
Andrologia. 2020 Apr;52(3):e13525. doi: 10.1111/and.13525. Epub 2020 Feb 5.
The pathophysiology of varicocele remains to be unknown. Several genetic factors have been implicated in varicocele etiopathogenesis. We studied the relationship between NOS3 c.894G>T, c.786T>C and 4b/a polymorphisms to varicocele risk and their prognostic value as regards improvement of the post-operative seminal parameters &/or seminal malonaldehyde levels. The three NOS3 polymorphisms were evaluated in 100 patients with varicocele and 100 healthy subjects by RT-PCR. Seminal plasma MDA level was measured pre-operatively and 3 months after varicocelectomy by the thiobarbituric acid method. The GT, TT, TC and bb genotypes of NOS3 polymorphism were more commonly observed in varicocele patients (30%, 9%, 28% and 70% respectively) compared to normal controls (12%, 0%, 10% and 50% respectively). The mean percentage of post-varicocelectomy seminal MDA reduction was highest with the GT genotype (p < .001). Genotypes GT+TT, TC and bb were associated with varicocele occurrence in our patients. The T (c.894G>T), C (c.786T>C) and b (NOS3 intron 4 VNTR) alleles were significantly associated with varicocele occurrence in our cohort of patients. We also report a better response regarding the reduction of seminal MDA after varicocelectomy with the GT and ba genotypes.
精索静脉曲张的病理生理学仍不清楚。一些遗传因素与精索静脉曲张的病因发病机制有关。我们研究了一氧化氮合酶3（NOS3）基因c.894G>T、c.786T>C和4b/a多态性与精索静脉曲张风险之间的关系，以及它们对术后精液参数改善和/或精液丙二醛水平的预后价值。通过逆转录聚合酶链反应（RT-PCR）对100例精索静脉曲张患者和100名健康受试者的三种NOS3多态性进行评估。术前及精索静脉结扎术后3个月采用硫代巴比妥酸法测定精浆丙二醛水平。与正常对照组（分别为12%、0%、10%和50%）相比，精索静脉曲张患者中NOS3多态性的GT、TT、TC和bb基因型更为常见（分别为30%、9%、28%和70%）。GT基因型的精索静脉结扎术后精液丙二醛降低的平均百分比最高（p<0.001）。GT+TT、TC和bb基因型与我们患者的精索静脉曲张发生有关。在我们的患者队列中，T（c.894G>T）、C（c.786T>C）和b（NOS3内含子4可变数目串联重复序列）等位基因与精索静脉曲张的发生显著相关。我们还报告了GT和ba基因型在精索静脉结扎术后精液丙二醛降低方面有更好的反应。
