Association of PRMT6, PEX10 and SOX5 genetic variants with idiopathic male infertility: Evidence from North Macedonian population and an updated meta-analysis
Asocijacija varijanti u genima PRMT6, PEX10 I SOX5 sa idiopatskim muškim sterilitetom: dokazi iz populacije Severne Makedonije i ažurirana meta-analiza
Authors
Rajovski, SrećkoVučić, Nemanja
Karanović, Jelena
Matijašević, Suzana
Savić-Pavićević, Dušanka
Dobrijević, Zorana
Brajušković, Goran
Article (Published version)
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PRMT6, PEX10 and SOX5 genetic variants were identified as male infertility-associated loci in a genome-wide association study and further validated in various populations. Still, the results of previous case-control studies varied, which could be due to differences in participants’ ethnic backgrounds. The main purpose of the present study was to evaluate the supposed association of these variants with idiopathic male infertility in North Macedonian population. Furthermore, we aimed to conduct the systematic quantitative data synthesis which includes the results of previous studies on the same issue in other European and non-European populations. A total of 137 men from North Macedonia diagnosed with idiopathic infertility and 130 age-matched fertile controls were included in the present case-control study. PCR-RFLP method was used for genotyping. Meta-analysis was performed by OpenMeta-analyst statistical software. Variants rs10842262 in SOX5, rs2477686 in PEX10 and rs12097821 in PRMT6... showed the lack of statistically significant differences in genotype distributions between men diagnosed with idiopathic infertility and the control group. Still, rs10842262 allele G frequency was significantly increased in men with poor sperm concentration (P= 0.024, OR = 2.10, 95%CI 1.08-4.06). Meta-analysis further showed the association of rs10842262 and rs12097821 with the risk of idiopathic male infertility. Our results obtained in North Macedonian population supported the previous reports on the involvement of rs10842262 in the genetic basis of male infertility. The meta-analysis confirmed the association of rs10842262 and rs12097821 with male infertility occurrence. Still, additional studies are needed to support the present findings.
Asocijacija varijanti u genima PRMT6, PEX10 i SOX5 sa muškim sterilitetom identifikovana je u studiji genetičke asocijacije na čitavom genomu i kasnije analizirana u studijama slučajeva i kontrola u različitim populacijama. Rezultati prethodnih studija su pokazali značajnu varijabilnost, što može biti posledica razlika u etničkom poreklu studijskih grupa. Osnovni cilj ovog istraživanja je analiza asocijacije navedenih genetičkih varijanti sa rizikom za pojavu idiopatskog muškog steriliteta u populaciji Severne Makedonije. Takođe, naš cilj je bio i sprovođenje sistematske kvantitativne sinteze podataka iz studija sa istom ili sličnom temom istraživanja sprovedenim u drugim evropskim i neevropskim populacijama. Ukupno 137 muškaraca sa idiopatskim sterilitetom iz Severne Makedonije i 130 fertilnih kontrola slične starosti uključeno je u studiju slučajeva i kontrola. Genotipizacaija je vršena PCR-RFLP metodom, dok je za meta-analizu korišćen statistički softver OpenMeta-analyst. Za varijan...te rs10842262 u SOX5, rs2477686 u PEX10 i rs12097821 u PRMT6 nije utvrđena statistički značajna razlika u distribucijama genotipova između grupe ispitanika sa idiopatskim sterilitetom i kontrolne grupe. Međutim, učestalost alela G varijante rs10842262 bila je značajno povećana kod muškaraca sa niskom koncentracijom spermatozoida (P= 0.024, OR = 2.10, 95%CI 1.08– 4.06). Meta-analizom pokazana je asocijacija rs10842262, ali i rs12097821, sa rizikom za razvoj idiopatskog muškog steriliteta. Naši rezultati ustanovljeni u populaciji Severne Makedonije idu u prilog prethodnim navodima o učešću rs10842262 u genetičkoj osnovi muškog steriliteta. Ipak, dodatne studije su neophodne kako bi potvrdile značaj rezultata ovog istraživanja.
Keywords:
male infertility / rs10842262 / rs12097821 / rs2477686 / meta-analysisSource:
Genetika, 2023, 55, 1, 355-372Funding / projects:
- Ministry of Science, Technological Development and Innovation of the Republic of Serbia, institutional funding - 200178 (University of Belgrade, Faculty of Biology) (RS-MESTD-inst-2020-200178)
DOI: 10.2298/GENSR2301355R
ISSN: 0534-0012; 1820-6069(Online)
Scopus: 2-s2.0-85159942559
URI
https://doiserbia.nb.rs/Article.aspx?ID=0534-00122301355Rhttps://imagine.imgge.bg.ac.rs/handle/123456789/2212
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Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Rajovski, Srećko AU - Vučić, Nemanja AU - Karanović, Jelena AU - Matijašević, Suzana AU - Savić-Pavićević, Dušanka AU - Dobrijević, Zorana AU - Brajušković, Goran PY - 2023 UR - https://doiserbia.nb.rs/Article.aspx?ID=0534-00122301355R UR - https://imagine.imgge.bg.ac.rs/handle/123456789/2212 AB - PRMT6, PEX10 and SOX5 genetic variants were identified as male infertility-associated loci in a genome-wide association study and further validated in various populations. Still, the results of previous case-control studies varied, which could be due to differences in participants’ ethnic backgrounds. The main purpose of the present study was to evaluate the supposed association of these variants with idiopathic male infertility in North Macedonian population. Furthermore, we aimed to conduct the systematic quantitative data synthesis which includes the results of previous studies on the same issue in other European and non-European populations. A total of 137 men from North Macedonia diagnosed with idiopathic infertility and 130 age-matched fertile controls were included in the present case-control study. PCR-RFLP method was used for genotyping. Meta-analysis was performed by OpenMeta-analyst statistical software. Variants rs10842262 in SOX5, rs2477686 in PEX10 and rs12097821 in PRMT6 showed the lack of statistically significant differences in genotype distributions between men diagnosed with idiopathic infertility and the control group. Still, rs10842262 allele G frequency was significantly increased in men with poor sperm concentration (P= 0.024, OR = 2.10, 95%CI 1.08-4.06). Meta-analysis further showed the association of rs10842262 and rs12097821 with the risk of idiopathic male infertility. Our results obtained in North Macedonian population supported the previous reports on the involvement of rs10842262 in the genetic basis of male infertility. The meta-analysis confirmed the association of rs10842262 and rs12097821 with male infertility occurrence. Still, additional studies are needed to support the present findings. AB - Asocijacija varijanti u genima PRMT6, PEX10 i SOX5 sa muškim sterilitetom identifikovana je u studiji genetičke asocijacije na čitavom genomu i kasnije analizirana u studijama slučajeva i kontrola u različitim populacijama. Rezultati prethodnih studija su pokazali značajnu varijabilnost, što može biti posledica razlika u etničkom poreklu studijskih grupa. Osnovni cilj ovog istraživanja je analiza asocijacije navedenih genetičkih varijanti sa rizikom za pojavu idiopatskog muškog steriliteta u populaciji Severne Makedonije. Takođe, naš cilj je bio i sprovođenje sistematske kvantitativne sinteze podataka iz studija sa istom ili sličnom temom istraživanja sprovedenim u drugim evropskim i neevropskim populacijama. Ukupno 137 muškaraca sa idiopatskim sterilitetom iz Severne Makedonije i 130 fertilnih kontrola slične starosti uključeno je u studiju slučajeva i kontrola. Genotipizacaija je vršena PCR-RFLP metodom, dok je za meta-analizu korišćen statistički softver OpenMeta-analyst. Za varijante rs10842262 u SOX5, rs2477686 u PEX10 i rs12097821 u PRMT6 nije utvrđena statistički značajna razlika u distribucijama genotipova između grupe ispitanika sa idiopatskim sterilitetom i kontrolne grupe. Međutim, učestalost alela G varijante rs10842262 bila je značajno povećana kod muškaraca sa niskom koncentracijom spermatozoida (P= 0.024, OR = 2.10, 95%CI 1.08– 4.06). Meta-analizom pokazana je asocijacija rs10842262, ali i rs12097821, sa rizikom za razvoj idiopatskog muškog steriliteta. Naši rezultati ustanovljeni u populaciji Severne Makedonije idu u prilog prethodnim navodima o učešću rs10842262 u genetičkoj osnovi muškog steriliteta. Ipak, dodatne studije su neophodne kako bi potvrdile značaj rezultata ovog istraživanja. T2 - Genetika T1 - Association of PRMT6, PEX10 and SOX5 genetic variants with idiopathic male infertility: Evidence from North Macedonian population and an updated meta-analysis T1 - Asocijacija varijanti u genima PRMT6, PEX10 I SOX5 sa idiopatskim muškim sterilitetom: dokazi iz populacije Severne Makedonije i ažurirana meta-analiza EP - 372 IS - 1 SP - 355 VL - 55 DO - 10.2298/GENSR2301355R UR - https://hdl.handle.net/21.15107/rcub_imagine_2212 ER -
@article{ author = "Rajovski, Srećko and Vučić, Nemanja and Karanović, Jelena and Matijašević, Suzana and Savić-Pavićević, Dušanka and Dobrijević, Zorana and Brajušković, Goran", year = "2023", abstract = "PRMT6, PEX10 and SOX5 genetic variants were identified as male infertility-associated loci in a genome-wide association study and further validated in various populations. Still, the results of previous case-control studies varied, which could be due to differences in participants’ ethnic backgrounds. The main purpose of the present study was to evaluate the supposed association of these variants with idiopathic male infertility in North Macedonian population. Furthermore, we aimed to conduct the systematic quantitative data synthesis which includes the results of previous studies on the same issue in other European and non-European populations. A total of 137 men from North Macedonia diagnosed with idiopathic infertility and 130 age-matched fertile controls were included in the present case-control study. PCR-RFLP method was used for genotyping. Meta-analysis was performed by OpenMeta-analyst statistical software. Variants rs10842262 in SOX5, rs2477686 in PEX10 and rs12097821 in PRMT6 showed the lack of statistically significant differences in genotype distributions between men diagnosed with idiopathic infertility and the control group. Still, rs10842262 allele G frequency was significantly increased in men with poor sperm concentration (P= 0.024, OR = 2.10, 95%CI 1.08-4.06). Meta-analysis further showed the association of rs10842262 and rs12097821 with the risk of idiopathic male infertility. Our results obtained in North Macedonian population supported the previous reports on the involvement of rs10842262 in the genetic basis of male infertility. The meta-analysis confirmed the association of rs10842262 and rs12097821 with male infertility occurrence. Still, additional studies are needed to support the present findings., Asocijacija varijanti u genima PRMT6, PEX10 i SOX5 sa muškim sterilitetom identifikovana je u studiji genetičke asocijacije na čitavom genomu i kasnije analizirana u studijama slučajeva i kontrola u različitim populacijama. Rezultati prethodnih studija su pokazali značajnu varijabilnost, što može biti posledica razlika u etničkom poreklu studijskih grupa. Osnovni cilj ovog istraživanja je analiza asocijacije navedenih genetičkih varijanti sa rizikom za pojavu idiopatskog muškog steriliteta u populaciji Severne Makedonije. Takođe, naš cilj je bio i sprovođenje sistematske kvantitativne sinteze podataka iz studija sa istom ili sličnom temom istraživanja sprovedenim u drugim evropskim i neevropskim populacijama. Ukupno 137 muškaraca sa idiopatskim sterilitetom iz Severne Makedonije i 130 fertilnih kontrola slične starosti uključeno je u studiju slučajeva i kontrola. Genotipizacaija je vršena PCR-RFLP metodom, dok je za meta-analizu korišćen statistički softver OpenMeta-analyst. Za varijante rs10842262 u SOX5, rs2477686 u PEX10 i rs12097821 u PRMT6 nije utvrđena statistički značajna razlika u distribucijama genotipova između grupe ispitanika sa idiopatskim sterilitetom i kontrolne grupe. Međutim, učestalost alela G varijante rs10842262 bila je značajno povećana kod muškaraca sa niskom koncentracijom spermatozoida (P= 0.024, OR = 2.10, 95%CI 1.08– 4.06). Meta-analizom pokazana je asocijacija rs10842262, ali i rs12097821, sa rizikom za razvoj idiopatskog muškog steriliteta. Naši rezultati ustanovljeni u populaciji Severne Makedonije idu u prilog prethodnim navodima o učešću rs10842262 u genetičkoj osnovi muškog steriliteta. Ipak, dodatne studije su neophodne kako bi potvrdile značaj rezultata ovog istraživanja.", journal = "Genetika", title = "Association of PRMT6, PEX10 and SOX5 genetic variants with idiopathic male infertility: Evidence from North Macedonian population and an updated meta-analysis, Asocijacija varijanti u genima PRMT6, PEX10 I SOX5 sa idiopatskim muškim sterilitetom: dokazi iz populacije Severne Makedonije i ažurirana meta-analiza", pages = "372-355", number = "1", volume = "55", doi = "10.2298/GENSR2301355R", url = "https://hdl.handle.net/21.15107/rcub_imagine_2212" }
Rajovski, S., Vučić, N., Karanović, J., Matijašević, S., Savić-Pavićević, D., Dobrijević, Z.,& Brajušković, G.. (2023). Association of PRMT6, PEX10 and SOX5 genetic variants with idiopathic male infertility: Evidence from North Macedonian population and an updated meta-analysis. in Genetika, 55(1), 355-372. https://doi.org/10.2298/GENSR2301355R https://hdl.handle.net/21.15107/rcub_imagine_2212
Rajovski S, Vučić N, Karanović J, Matijašević S, Savić-Pavićević D, Dobrijević Z, Brajušković G. Association of PRMT6, PEX10 and SOX5 genetic variants with idiopathic male infertility: Evidence from North Macedonian population and an updated meta-analysis. in Genetika. 2023;55(1):355-372. doi:10.2298/GENSR2301355R https://hdl.handle.net/21.15107/rcub_imagine_2212 .
Rajovski, Srećko, Vučić, Nemanja, Karanović, Jelena, Matijašević, Suzana, Savić-Pavićević, Dušanka, Dobrijević, Zorana, Brajušković, Goran, "Association of PRMT6, PEX10 and SOX5 genetic variants with idiopathic male infertility: Evidence from North Macedonian population and an updated meta-analysis" in Genetika, 55, no. 1 (2023):355-372, https://doi.org/10.2298/GENSR2301355R ., https://hdl.handle.net/21.15107/rcub_imagine_2212 .