Enzymatic and Genetic Evaluation of Butyrylcholinesterase in Male Infertility.

OBJECTIVE To investigate the potential role of butyrylcholinesterase enzyme activity and tentative association of BChE gene SNPs polymorphisms (rs3495, rs1803274) with risk of male infertility. Male infertility is a highly prevalent multifactorial condition with complex heterogeneous phenotypic spectrum. A significant global variation has been observed in the prevalence of male infertility contributing to approximately 20-70% of overall infertility. An interplay of genetic, hormonal, environmental and lifestyle factors are involved in the development of male infertility. Butyrylcholinesterase (BChE), an enzyme involved in oxidative stress and sperm function may play a role in infertility, but its genetic and enzymatic profiles in male infertility are unexplored.

STUDY DESIGN A case control/observational study was conducted enrolling fifty-five fertile and infertile male individuals.

SUBJECTS Sixty-five fertile and infertile males volunteers were included in the study EXPOSURE: Volunteers were clinically diagnosed for infertility.

MAIN OUTCOME MEASURES Plasma BChE activity was estimated spectrophotometrically by Ellman's method. SNP genotyping of BChE gene variants was performed by PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) and Tetra ARMS-PCR (tetra-primer Amplification Refractory Mutation System- PCR).

RESULTS Infertile group exhibited significantly lower BChE activity as compared to the fertile group (p≤0.01). In addition, notable genetic association of BChE variants with risk of male infertility was identified. BChE rs3495 showed significant correlation in dominant model (OR = 21.67, p = 0.0001) and allelic distribution (OR = 3.30, p = 0.0002) while rs1803274 showed robust association in all models (p = <0.0001).

CONCLUSION This is the first study linking BChE variants and reduced BChE enzymatic activity with male infertility. These findings suggest BChE as a potential biomarker and therapeutic target for idiopathic infertility.