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Updated: May 22, 2026
08:48
Flow Cytometric Analysis of Biomarkers for Detecting Human Sperm Functional Defects
Published on: April 21, 2022
Choline dehydrogenase polymorphism rs12676 is a functional variation and is associated with changes in human sperm
Amy R Johnson1, Sai Lao, Tongwen Wang
1Department of Nutrition, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Plos One
|May 5, 2012
Summary
Genetic variations, specifically single nucleotide polymorphisms (SNPs) in the CHDH gene, are linked to male infertility. These SNPs, like rs12676, affect sperm motility and energy production, impacting male fertility.
Area of Science:
- Genetics
- Reproductive Biology
- Biochemistry
Background:
- Male factor infertility affects up to half of infertile couples, with genetic aberrations being a potential cause.
- The choline dehydrogenase (Chdh) gene plays a role in male fertility, as evidenced by reduced sperm motility and ATP concentration in Chdh knockout mice.
- Single nucleotide polymorphisms (SNPs) in the human CHDH gene may alter its enzymatic activity and impact fertility.
Purpose of the Study:
- To investigate the association between the CHDH gene SNP rs12676 and male infertility.
- To examine the effect of rs12676 on sperm motility, mitochondrial structure, and ATP concentrations.
- To explore the link between the IL17BR gene SNP rs1025689 and sperm characteristics.
Main Methods:
- Genotyping of CHDH SNP rs12676 and IL17BR SNP rs1025689 in human subjects.
- Analysis of sperm motility patterns using specialized techniques.
- Measurement of ATP concentrations in sperm.
- Assessment of sperm mitochondrial morphology and structure.
- Quantification of CHDH protein levels in sperm and hepatocytes.
Main Results:
- The CHDH SNP rs12676 (G233T) is associated with altered sperm motility and abnormal sperm mitochondrial structure.
- Men with GT or TT genotypes for rs12676 exhibited significantly lower sperm ATP concentrations (40% and 73% reduction, respectively).
- rs12676 is linked to reduced CHDH protein levels in sperm and hepatocytes.
- The IL17BR SNP rs1025689 is associated with changes in sperm motility and choline metabolite levels.
Conclusions:
- The CHDH gene SNP rs12676 is a contributing factor to male infertility by impairing sperm function, motility, and energy metabolism.
- Mitochondrial dysfunction in sperm may be a key mechanism linking rs12676 to reduced fertility.
- Further research into genetic factors like SNPs in CHDH and IL17BR is crucial for understanding and potentially treating male infertility.
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