Single-nucleotide polymorphisms of MAMLD1 and hypospadias in Chinese / 中华男科学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the role of the MAMLD1 gene mutation in the pathogenesis of hypospadias in the Chinese population.</p><p><b>METHODS</b>We collected peripheral venous blood from 150 Chinese children with hypospadias (the case group) and another 120 normal healthy ones (the control group), aged 0.5 to 6 years. We obtained their DNA samples and performed DNA sequencing on the single-nucleotide polymorphisms of MAMLD1, followed by comparative analysis.</p><p><b>RESULTS</b>A known missense mutation polymorphism p. N589S was identified in 12 (8.0%) of the hypospadias patients and 4 (3.0%) of the normal controls, and a novel missense mutation polymorphism p. N567S was identified in 4 (2.7%) of the patients and 3 (2.5%) of the controls, neither with statistically significant differences between the two groups (P > 0.05).</p><p><b>CONCLUSION</b>The results re-emphasized the importance of replication in genetic association approaches, and might reveal a real difference in susceptibility genes among different populations. The single-nucleotide polymorphisms of MAMLD1 bear no obvious correlation with hypospadias, and MAMLD1 is not a candidate gene in its pathogenesis in the Chinese population.</p>