Single-nucleotide polymorphisms of MAMLD1 and hypospadias in Chinese.
- Author:
Li-Kai ZHUANG
1
;
Qi-Hua FU
;
Jian WANG
;
Jie SUN
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; Case-Control Studies; Child; Child, Preschool; DNA-Binding Proteins; genetics; Gene Frequency; Haplotypes; Humans; Hypospadias; genetics; Infant; Male; Nuclear Proteins; genetics; Polymorphism, Single Nucleotide; Transcription Factors; genetics
- From: National Journal of Andrology 2012;18(8):727-730
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the role of the MAMLD1 gene mutation in the pathogenesis of hypospadias in the Chinese population.
METHODSWe 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.
RESULTSA 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).
CONCLUSIONThe 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.
