DAZL gene polymorphisms and astheno-teratozoospermia / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the association between single nucleotide polymorphism (SNP) of the DZAL gene in infertile Han Chinese males with astheno-teratozoospermia.</p><p><b>METHODS</b>We collected semen samples from 173 infertile Han Chinese men with astheno-teratozoospermia (case group) and 175 age-matched normal male volunteers (control group) for semen routine and morphological analyses. We obtained genomic DNA, genotyped the polymorphisms of the DAZL gene A260G and A386G via the Sequenom MassARRAY system, and compared the frequencies of the genotypes between the case and control groups.</p><p><b>RESULTS</b>The AA nucleotide variant was found in the A260G and A386G polymorphisms of the DZAL gene in both the cases and controls, but the heterozygous AG variant in neither.</p><p><b>CONCLUSION</b>The A260G and A386G polymorphisms of the DAZL gene are not correlated with astheno-teratozoospermia-induced male infertility in the Han Chinese population, and therefore could not be considered as molecular markers of male infertility.</p>

Association of PRM1-190C- > A polymorphism with teratozoospermia / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the association of single nucleotide polymorphism (SNP) of the Protamine 1 (PRM1) gene in infertile men with teratozoospermia.</p><p><b>METHODS</b>We collected semen samples from 157 infertile men with teratozoospermia (case group) and 37 age-matched male volunteers (control group), and subjected them to morphological analysis. We extracted genome DNA, genotyped the polymorphism of the PRM1-190C- > A SNP (rs2301365) using the Sequenom MassARRAY system, compared the genotype frequencies between the case and control groups, and analyzed the sperm morphological parameters of different genotypes in the infertile males with teratozoospermia.</p><p><b>RESULTS</b>The frequencies of the genotypes CC, CA and AA were 38.9% (61), 44.6% (70) and 16.6% (26) in the case group, as compared with 45.9% (17), 51.4% (19) and 2.7% (1) in the control, with that of AA significantly higher in the patients than in the volunteers (P<0.05). The frequencies of the alleles C and A were 57.6% and 42.4% in the former, with no significant differences from 71.6% and 28.4% in the latter (P>0.05). Nor were any statistically significant differences observed in sperm morphology parameters between the genotype CC and CA, AA and CA + AA in the male patients (P>0.05).</p><p><b>CONCLUSION</b>The SNP of PRM1-190C- > A might be associated with teratozoospermia-induced male infertility in the Han Chinese. Although this SNP may attribute to abnormal sperm morphology, the targeted part of sperm remains unclear.</p>

Association of the C3 gene polymorphisms with susceptibility to adult asthma / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the association between single nucleotide polymorphisms (SNPs) of the complement component 3 gene (C3) and adult asthma of Hans in southern China.</p><p><b>METHODS</b>A case-control study was performed. Four hundred and eighty-four adult asthma patients diagnosed in Nanfang Hospital and Affiliated Hospital of Guangdong Medical College, and 553 healthy subjects were collected from 2006 to 2010 for the study. MassARRAY-IPLEX and matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF-MS) techniques was used to determine the genotypes of the rs10402876 and rs366510 loci of C3 gene.</p><p><b>RESULTS</b>Genotypes GG, GT and TT in the rs366510 locus, and genotypes GG, GT and TT in the rs10402876 locus were detected. A total of 98.94 percent of samples were genotyped. There were no significant differences in genotype frequencies (chi-square =0.346,P=0.841) and allele frequencies (chi-square =0.101,P=0.751) of rs10402876 between the two groups. However, genotype and allele frequencies of the rs366510 locus were significantly different (chi-square =9.759, P=0.008, Bonferroni correction, P=0.016; chi-square =5.294,P=0.021, Bonferroni correction, P=0.042, respectively). Compared with genotypes GG+GT, genotype TT of rs366510 significantly increased the risk of asthma, with the odds ratio of 1.471 (95% confidence interval 1.125-1.923).</p><p><b>CONCLUSION</b>These results suggest that C3 gene could be associated with adult asthma of Han population in southern China.</p>