Association of PTX3 Genetic Variants With Development of Diabetic Neuropathy.

Background/aim: Pentraxin 3 (PTX3), initially discovered as a key player in the defense against infectious pathogens, is crucial for inflammation and tissue regeneration. This study aimed to explore the impact of PTX3 gene variants on the development and progression of diabetic neuropathy (DN).

Materials and methods: The potential impact of PTX3 gene variants on the susceptibility to DN was examined by genotyping four single-nucleotide polymorphisms (SNPs) of the PTX3 gene (rs1840680, rs2305619, rs3816527, and rs2120243) in a study involving 730 DN cases and 861 diabetic controls with normal neurologic function.

Results: We demonstrated that diabetic subjects homozygous for the minor allele at rs1840680 [AA; adjusted odds ratio (AOR)=1.486; 95% confidence interval (CI)=1.050-2.103; p=0.02] or rs2120243 (AA; AOR=1.483; 95%CI=1.051-2.091; p=0.025) were more likely to develop neurologic complications compared to those homozygous for the corresponding major allele. Further stratification revealed that this correlation with DN risk was observed specifically in males but not in females. In addition, another SNP of the PTX3 gene, rs2305619, was found to be associated with the risk for DN in males (AA vs. GG, AOR=1.686; 95%CI=1.086-2.617, p=0.020), indicating a sex-specific impact of PTX3 gene polymorphisms on damage to the nerves in diabetic patients. Furthermore, DN patients homozygous for the minor allele of rs1840680 (AA), particularly males, had higher levels of LDL-cholesterol than those homozygous for the reference allele (GG) (p=0.034).

Conclusion: PTX3 gene polymorphisms are associated with dyslipidemia and nerve damage in diabetic patients in a sex-specific manner.