F&S science · 2026
Disrupted Sperm Chromatin Integrity and DNA Fragmentation in Idiopathic Oligospermia: Assessing the Impact of LIG4 and RAG1 Polymorphisms.
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İpekçi Mert, Erdal Gülbahar Güzel, Balkan Mahmut
Аннотация
OBJECTIVE: This study aimed to investigate the association of genetic variants in the DNA repair genes LIG4 (rs1805388) and RAG1 (rs2227973) with sperm DNA damage and chromatin integrity in men with idiopathic oligospermia.
DESIGN: Case-control study.
SUBJECTS: Forty infertile men with idiopathic oligospermia and 40 fertile controls.
EXPOSURE: Assessment of sperm DNA fragmentation (SDF) by the TUNEL assay, chromatin packaging by aniline blue staining, and genotyping of LIG4 and RAG1 polymorphisms by real-time PCR.
MAIN OUTCOME MEASURES: Genotype and allele frequencies of LIG4 (rs1805388) and RAG1 (rs2227973), SDF, and chromatin protamination status.
RESULTS: Men with idiopathic oligospermia had significantly higher SDF levels than controls (p < 0.001). Although histone-rich spermatozoa were more frequent in the patient group, the difference was not statistically significant (p = 0.122). The allele frequencies of LIG4 rs1805388 differed significantly between groups (p = 0.033), whereas genotype distribution did not (p = 0.067). No significant differences were observed in the genotype or allele frequencies of RAG1 rs2227973. Neither polymorphism was associated with SDF levels or chromatin protamination.
CONCLUSION: Idiopathic oligospermia was associated with increased SDF, whereas alterations in chromatin packaging did not reach statistical significance. Although the allele frequencies of LIG4 rs1805388 differed between groups, these findings do not support an association of the LIG4 rs1805388 and RAG1 rs2227973 polymorphisms with SDF or chromatin protamination in this cohort.
DESIGN: Case-control study.
SUBJECTS: Forty infertile men with idiopathic oligospermia and 40 fertile controls.
EXPOSURE: Assessment of sperm DNA fragmentation (SDF) by the TUNEL assay, chromatin packaging by aniline blue staining, and genotyping of LIG4 and RAG1 polymorphisms by real-time PCR.
MAIN OUTCOME MEASURES: Genotype and allele frequencies of LIG4 (rs1805388) and RAG1 (rs2227973), SDF, and chromatin protamination status.
RESULTS: Men with idiopathic oligospermia had significantly higher SDF levels than controls (p < 0.001). Although histone-rich spermatozoa were more frequent in the patient group, the difference was not statistically significant (p = 0.122). The allele frequencies of LIG4 rs1805388 differed significantly between groups (p = 0.033), whereas genotype distribution did not (p = 0.067). No significant differences were observed in the genotype or allele frequencies of RAG1 rs2227973. Neither polymorphism was associated with SDF levels or chromatin protamination.
CONCLUSION: Idiopathic oligospermia was associated with increased SDF, whereas alterations in chromatin packaging did not reach statistical significance. Although the allele frequencies of LIG4 rs1805388 differed between groups, these findings do not support an association of the LIG4 rs1805388 and RAG1 rs2227973 polymorphisms with SDF or chromatin protamination in this cohort.