TNP2 and Azoospermia

TNP2 is a gene implicated in chromatin remodeling during spermatogenesis. Functional studies in Tnp2 null mice indicate that loss of TNP2 results in compromised spermatogenesis (PMID:20522125). However, in human association studies the evidence is not supportive: one study sequencing 320 infertile men identified a candidate variant, c.1030G>A (p.Gly344Asp), in azoospermic cases but found that haplotype analysis only yielded a significant association for TNP1, not TNP2 (PMID:20522125). In a second independent investigation involving 96 idiopathic infertile men, analysis of multiple SNPs including a TNP2 variant (G1272C) did not show a statistically significant association with azoospermia (PMID:25246894).

Although functional assessments underscore the importance of TNP2 in normal spermatogenesis, the conflicting genetic evidence renders the clinical validity of its association with azoospermia disputed. This discrepancy highlights that despite experimental data supporting a role in testicular function, current human studies do not favor the use of TNP2 as a standalone diagnostic marker for azoospermia. Key take‑home message: Additional investigations are necessary to reconcile experimental observations with human genetic data before TNP2 can be reliably employed for diagnostic or commercial testing purposes.

References

• International journal of andrology • 2011 • The TNP1 haplotype - GCG is associated with azoospermia PMID:20522125
• Iranian journal of reproductive medicine • 2012 • Association study of six SNPs in PRM1, PRM2 and TNP2 genes in iranian infertile men with idiopathic azoospermia PMID:25246894

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