[Association of single nucleotide polymorphisms of PATZ1 gene with azoospermia].
OBJECTIVE
To study the relationship between the polymorphisms of single nucleotide polymorphisms(SNPs) in rs2240424, rs2057951, rs2240427 and rs714909 loci in the PATZ1 gene and azoospermia.


METHODS
The allele and genotype frequencies of the four SNPs were investigated in 180 patients with azoospermia and 190 normal men as controls by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis. The allele and genotype frequencies of the four SNPs were investigated in 180 patients with azoospermia and 190 normal men as controls by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis.


RESULTS
The frequencies of allele C (35.0% vs. 27.6%, P=0.031) and individuals with allele C (TC+CC) (57.8% vs. 46.3%, P=0.027) at the rs2057951 locus in azoospermic patients were significantly higher than that in normal men. There was a significant difference in distribution of haplotypes of the four SNPs between the two groups (P=0.01). Hapoltypes ACAC (11.1% vs. 6.6%, P=0.029) and ACGC (11.2% vs. 5.2%, P=0.003) increased significantly in azoospermic patients compared with controls.


CONCLUSIONS
The allele C of rs2057951 locus and haplotypes ACAC and ACGC of the four SNPs in PTAZ1 gene increased the susceptibility to azoospermia, suggesting that PATZ1gene may be associated with azoospermia.
Huang
Jian-xi
JX
Department of Basic Medicine, Dali College, Dali, Yunnan, 671000 PR China.
A
Zhou-cun
ZC
D000483:Alleles; D053713:Azoospermia / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*
D051741:Kruppel-Like Transcription Factors; C412784:PATZ1 protein, human; D012097:Repressor Proteins