Single nucleotide polymorphisms of the DGKK gene and hypospadias in Chinese children.
- Author:
Li-kai ZHUANG
1
;
Min WU
;
Wei-jing YE
;
Yi-dong LIU
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; Case-Control Studies; Child; China; Diacylglycerol Kinase; genetics; Humans; Hypospadias; enzymology; genetics; Male; Polymorphism, Single Nucleotide
- From:National Journal of Andrology 2014;20(11):991-994
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the role of single nucleotide polymorphisms of the gene of diacylglycerol kinase κ (DGKK) in hypospadias in Chinese children.
METHODSWe performed direct sequencing on 2 hypospadias-related candidate single nucleotide polymorphisms of the DGKK gene (rs1934179 and rs7063116, never previously reported in the Chinese population) from 300 children with sporadic hypospadias and 200 healthy controls, and compared the results between the two groups.
RESULTSThe mutation frequencies of rs1934179 and rs7063116 were 5.0% (15/300) and 5.67% (17/300) respectively in the hypospadias patients, significantly higher than 1.5% (3/200) and 2.0% (4/200) in the normal controls (P <0.05). The mutation frequencies of rs1934179 and rs7063116 in the cases of distal and middle hypospadias were also remarkably higher (6.5%, [13/200] and 7.5% [15/200], P <0.05), but those in the proximal cases (both 2.0% [2/100]) showed no statistically significant difference from the control (P >0.05).
CONCLUSIONThe polymorphisms of the DGKK gene may be associated with hypospadias, particularly distal and middle hypospadias, in Chinese children.
