ORIGINAL ARTICLE
Ahead of Print

The association of stromal antigen 3 (STAG3) sequence variations with spermatogenic impairment in the male Korean population


1 Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Korea
2 Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul 06135, Korea
3 Department of Urology, CHA Gangnam Medical Center, CHA University, Seoul 06135, Korea
4 Department of Urology, Cheil General Hospital, Seoul 04619, Korea
5 Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, Seoul 04637, Korea

Correspondence Address:
Sung Han Shim,
Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Korea; Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul 06135, Korea

Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aja.aja_28_19

PMID: 31115363

The stromal antigen 3 (STAG3) gene, encoding a meiosis-specific cohesin component, is a strong candidate for causing male infertility, but little is known about this gene so far. We identified STAG3 in patients with nonobstructive azoospermia (NOA) and normozoospermia in the Korean population. The coding regions and their intron boundaries of STAG3 were identified in 120 Korean men with spermatogenic impairments and 245 normal controls by using direct sequencing and haplotype analysis. A total of 30 sequence variations were identified in this study. Of the total, seven were exonic variants, 18 were intronic variants, one was in the 5'-UTR, and four were in the 3'-UTR. Pathogenic variations that directly caused NOA were not identified. However, two variants, c.3669+35C>G (rs1727130) and +198A>T (rs1052482), showed significant differences in the frequency between the patient and control groups (P = 0.021, odds ratio [OR]: 1.79, 95% confidence interval [CI]: 1.098–2.918) and were tightly linked in the linkage disequilibrium (LD) block. When pmir-rs1052482A was cotransfected with miR-3162-5p, there was a substantial decrease in luciferase activity, compared with pmir-rs1052482T. This result suggests that rs1052482 was located within a binding site of miR-3162-5p in the STAG3 3'-UTR, and the minor allele, the rs1052482T polymorphism, might offset inhibition by miR-3162-5p. We are the first to identify a total of 30 single-nucleotide variations (SNVs) of STAG3 gene in the Korean population. We found that two SNVs (rs1727130 and rs1052482) located in the 3'-UTR region may be associated with the NOA phenotype. Our findings contribute to understanding male infertility with spermatogenic impairment.


[FULL TEXT] [PDF]
Print this article
Search
 Back
 
  Search Pubmed for
 
    -  Nam Y
    -  Kang KM
    -  Sung SR
    -  Park JE
    -  Shin YJ
    -  Song SH
    -  Seo JT
    -  Yoon TK
    -  Shim SH
 Citation Manager
 Article Access Statistics
 Reader Comments
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed698    
    PDF Downloaded57    

Recommend this journal