title: The Relationship Between Endothelial Nitric Oxide Synthase Gene (NOS3) Polymorphisms, NOS3 Expression, and Varicocele.
abstract: BACKGROUND
  Varicocele is an abnormal enlargement of the pampiniform venous plexus in the scrotum. Varicocele is the most common cause of secondary male infertility. Nitric oxide (NO), which has a role on varicocele pathophysiology, is synthesized by endothelial nitric oxide synthase gene (NOS3).
  
  
  OBJECTIVE
  In our study, we aimed to explain the relationship between varicocele, three common NOS3 polymorphisms (T-786C, G894T, 4b/a), and NOS3 mRNA expression levels.
  
  
  METHODS
  We investigated NOS3 T-786C, G894T, and 4b/a polymorphisms in 102 patients with varicocele and 100 healthy controls. Twenty-four patients and 17 controls were chosen for expression studies based on polymorphism subgroupings. Subgroup 1 includes patients who have no minor allele polymorphisms, and subgroups 2, 3, and 4 have T-786C, G894T, and 4b/a polymorphisms, respectively.
  
  
  RESULTS
  The 4b/a polymorphism demonstrated significantly elevated levels in both allele and genotype analysis in the control group compared to the patient group. The G894T polymorphism was statistically elevated for genotypic frequencies in the patient group compared to the control group, but this finding did not extend to allelic frequencies. There were no statistically significant differences in either the allelic or genotypic frequencies between patients and control groups for the T-786C polymorphism. When patient and control expression levels were compared without considering the subgroups, the NOS3 expression level was found to be statistically higher in the patient group. There were no statistically significant differences in the patient and control group expression levels when stratified by subgroup, nor was there any effect of the polymorphisms under study on expression levels.
  
  
  CONCLUSIONS
  The 4b/a polymorphism may have a protective effect for varicocelem and G894T polymorphism may contribute to varicocele occurrence by lowering the level of NO. The higher NOS3 expression levels in the patient group may be a kind of dilator compensatory mechanism to protect vascular anatomy in varicocele.
authors: 1 Department of Medical Genetics, Erzurum Regional and Training Hospital , Erzurum, Turkey .
authors: Cigdem Yuce
authors: CY
authors: Kahraman
authors: 2 Department of Medical Genetics, Ataturk University Medical Faculty , Erzurum, Turkey .
authors: Sener
authors: S
authors: Tasdemir
authors: 2 Department of Medical Genetics, Ataturk University Medical Faculty , Erzurum, Turkey .
authors: Ibrahim
authors: I
authors: Sahin
authors: 1 Department of Medical Genetics, Erzurum Regional and Training Hospital , Erzurum, Turkey .
authors: Ebru
authors: E
authors: Marzioglu Ozdemir
authors: 1 Department of Medical Genetics, Erzurum Regional and Training Hospital , Erzurum, Turkey .
authors: Oguzhan
authors: O
authors: Yaralı
authors: 3 Department of Urology, Ataturk University Medical Faculty , Erzurum, Turkey .
authors: Tevfik
authors: T
authors: Ziypak
authors: 3 Department of Urology, Ataturk University Medical Faculty , Erzurum, Turkey .
authors: Senol
authors: S
authors: Adanur
authors: 4 Department of Radiology, Erzurum Regional and Training Hospital , Erzurum, Turkey .
authors: Mustafa
authors: M
authors: Kahraman
authors: 2 Department of Medical Genetics, Ataturk University Medical Faculty , Erzurum, Turkey .
authors: Abdulgani
authors: A
authors: Tatar
mesh_terms: D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D015870:Gene Expression; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D052250:Nitric Oxide Synthase Type III / Q000096:biosynthesis / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D014646:Varicocele / Q000201:enzymology* / Q000235:genetics*
chemical_list: C496314:NOS3 protein, human; D052250:Nitric Oxide Synthase Type III