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Updated: Feb 6, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
[Single nucleotide polymorphisms of the N-acetyltransferase 2 gene not correlated with male infertility]
Objective:
To investigate the correlation of the single nucleotide polymorphisms(SNPs) rs1799930 and rs1799931 of the N-acetyltransferase 2 gene( NAT2) with the risk of male infertility in Nanjing area.
Methods:
We made a case-control study of 636 cases of male idiopathic infertility and 442 normal fertile men as controls. We genotyped the two SNPs by Sequenom Mass Array, analyzed the correlation of different genotypes with male infertility using the logistic regression model, and determined the association of the linkage effect of the two SNPs with male infertility by haplotype analysis.
Results:
Statistically significant differences were found between the case and control groups in sperm concentration([32. 32 ± 45. 49] vs [72. 77 ± 45. 21] × 106/ ml, P < 0. 01),the percentage of progressively motile sperm([15. 29 ± 5. 06] vs [42. 02 ± 9. 04]%,P < 0. 01),and the level of follicle-stimulating hormone([14. 69 ± 12. 37] vs [4. 72 ± 2. 51] U / L,P < 0. 01), but not in other parameters. No correlation was observed between the frequencies of the two SNPs or alleles in different models and male infertility. Haplotype analysis suggested a linkage effect within rs1799930 and rs1799931(D’ = 0. 998,r2= 0. 05) but no evident correlation between male infertility and genotype combination.
Conclusion:
The SNPs rs1799930 and rs1799931 of the NAT2 gene were not found to be correlated with the risk of idiopathic infertility in men.
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