20.500.12556/RUL-170871 Vpliv dolžine telomer in polimorfizmov posameznih nukleotidov v genih, povezanih z delovanjem telomeraz, na neplodnost moških Telomere length and single nucleotide polymorphisms in genes affecting telomerase activityin infertile men Razumevanje biologije telomer in vpliv na njihovo dolžino je zaradi kompleksnosti še nepopolno, prav tako pa še ni popolnoma jasen vpliv telomer na neplodnost. V raziskavi smo proučevali dolžino telomer (TL, angl. telomere length) in osem polimorfizmov posameznega nukleotida (SNP, angl. single nucleotide polymorphism) v genih, povezanih z vzdrževanjem TL, pri moških z azoospermijo (AZO) in oligoastenoteratozoospermijo (OAT) ter primerjalni skupini plodnih moških. V analizo smo vključili 368 preiskovancev, starih med 19 in 55 let. V neplodno skupino AZO je bilo uvrščenih 98 preiskovancev, medtem ko sta neplodna skupina OAT in kontrolna plodna skupina obsegali po 135 preiskovancev. Vsi neplodni moški so predhodno opravili genetski pregled, s katerim smo izključili najpogostejše vzroke neplodnosti. TL smo določili z metodo kvantitativne verižne reakcije s polimerazo (qPCR, angl. quantitative polymerase chain reaction). Za analizo SNP-jev smo uporabili metodo alelne diskriminacije s sondami TaqMan. Ugotovili smo, da imajo neplodni moški statistično značilno krajše telomere kot moški kontrolne skupine (v povprečju 1,85-krat krajše), pri čemer ni bilo statistično pomembne razlike med skupinama AZO in OAT. Pri vseh skupinah je bila opažena negativna korelacija med TL in starostjo. V analizi SNP-jev smo zaznali dve statistično pomembni razliki: alel A SNP-ja rs1634382 v genu YBX2 je bil pogostejši pri moških z AZO (p=0,04), kar nakazuje vpliv na zgodnje faze spermatogeneze. Pri SNP-ju rs11125529 v genu ACYP2 sta bila alel C in genotip C/C značilno pogostejša pri moških z OAT (p=0,01; p=0,02), kar povezujemo z vplivom na zmanjšano gibljivostjo semenčic. Ostali SNP-ji niso dosegli statistične značilnosti, a so sledili trendom predhodnih raziskav. Understanding the biology of telomeres and the factors influencing their length remains incomplete due to their complexity. Similarly, the impact of telomeres on infertility has not yet been fully determined. In this study, we investigated telomere length (TL) and eight single nucleotide polymorphisms (SNPs) in genes associated with TL maintenance in men diagnosed with azoospermia (AZO) and oligoasthenoteratozoospermia (OAT), compared to a control group of fertile men. A total of 368 participants, aged between 19 and 55 years, were included in the analysis. Of the 368 participants, 98 were diagnosed with AZO, 135 with OAT, and 135 were classified as fertile controls. All AZO and OAT subjects had previously undergone genetic screening to exclude the most common causes of infertility. TL was measured using quantitative polymerase chain reaction (qPCR). SNPs were genotyped using TaqMan assays. We found that infertile men had significantly shorter telomeres compared to fertile controls (on average 1,85 times shorter), with no statistically significant difference between the AZO and OAT groups. Across all groups, TL was negatively correlated with age. SNP analysis revealed two statistically significant associations: the A allele of SNP rs1634382 in the YBX2 gene was more frequent in men with AZO (p=0,04), suggesting a role in early spermatogenesis. In the case of SNP rs11125529 in the ACYP2 gene, the C allele and C/C genotype were significantly more prevalent among men with OAT (p=0,01; p=0,02), indicating a potential association with reduced sperm motility. The remaining SNPs did not reach statistical significance but followed trends consistent with previous studies. moška neplodnost azoospermija oligoastenoteratozoospermija telomere polimorfizem posameznega nukleotida male infertility azoospermia oligoasthenoteratozoospermia telomeres single nucleotide polymorphism true false false Slovenski jezik Angleški jezik Magistrsko delo/naloga 2025-07-19 07:16:13 2025-07-19 07:16:20 2025-07-21 14:12:26 0000-00-00 00:00:00 2025 0 0 0000-00-00 NiDoloceno NiDoloceno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 257858 243239171 49478.pdf 49478.pdf 1 244C178D9FC40967D163054F8101B6E5 2c8e5b29081f7b4fed06760da97102c05a5185274f92e2519d4d736b41fd9a8f 80531b47-645f-11f0-9328-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=213140 Biotehniška fakulteta 0 0 0