The association of stromal antigen 3 (STAG3) sequence variations with spermatogenic impairment in the male Korean population
| Autor: | Ju Tae Seo, Tae Ki Yoon, Yeojung Nam, Ji Eun Park, Yun-Jeong Shin, Kyung Min Kang, Seung Hun Song, Se Ra Sung, Sung Han Shim |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Untranslated region
Adult Male Linkage disequilibrium Genotype Urology 030232 urology & nephrology Cell Cycle Proteins Biology lcsh:RC870-923 Polymorphism Single Nucleotide single-nucleotide variations Male infertility stromal antigen 3 gene 03 medical and health sciences 0302 clinical medicine Asian People Stromal antigen 3 Republic of Korea medicine Humans RNA Messenger Spermatogenesis Gene Azoospermia Genetics 030219 obstetrics & reproductive medicine Haplotype General Medicine Odds ratio Oligospermia meiotic-specific gene medicine.disease lcsh:Diseases of the genitourinary system. Urology Minor allele frequency MicroRNAs Gene Expression Regulation Haplotypes linkage disequilibrium spermatogenic impairment Case-Control Studies Original Article |
| Zdroj: | Asian Journal of Andrology Asian Journal of Andrology, Vol 22, Iss 1, Pp 106-111 (2020) |
| ISSN: | 1745-7262 1008-682X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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