[中国儿童DGKK基因单核苷酸多态性与尿道下裂]

[Single nucleotide polymorphisms of the DGKK gene and hypospadias in Chinese children].

作者信息

Zhuang Li-kai, Wu Min, Ye Wei-jing, Liu Yi-dong

机构信息

Department of Urology, Renji Hospital, Shanghai Jiatong University, China.

出版信息

Zhonghua Nan Ke Xue. 2014 Nov;20(11):991-4.

PMID:25577833

Abstract

OBJECTIVE

To investigate the role of single nucleotide polymorphisms of the gene of diacylglycerol kinase κ (DGKK) in hypospadias in Chinese children.

METHODS

We 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.

RESULTS

The 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).

CONCLUSION

The polymorphisms of the DGKK gene may be associated with hypospadias, particularly distal and middle hypospadias, in Chinese children.

摘要

目的

探讨二酰基甘油激酶κ（DGKK）基因单核苷酸多态性在中国儿童尿道下裂中的作用。

方法

我们对300例散发型尿道下裂患儿和200例健康对照者的DGKK基因2个与尿道下裂相关的候选单核苷酸多态性位点（rs1934179和rs7063116，此前中国人群中从未报道过）进行直接测序，并比较两组结果。

结果

尿道下裂患儿中rs1934179和rs7063116的突变频率分别为5.0%（15/300）和5.67%（17/300），显著高于正常对照组的1.5%（3/200）和2.0%（4/200）（P<0.05）。远端和中段尿道下裂病例中rs1934179和rs7063116的突变频率也显著更高（分别为6.5%，[13/200]和7.5%[15/200]，P<0.05），但近端病例中的突变频率（均为2.0%[2/100]）与对照组相比无统计学差异（P>0.05）。