The enabled homolog gene polymorphisms are associated with susceptibility and progression of childhood IgA nephropathy.
10.3858/emm.2009.41.11.085
- Author:
Won Ho HAHN
1
;
Jin Soon SUH
;
Byoung Soo CHO
;
Sung Do KIM
Author Information
1. Department of Pediatrics, East West Kidney Diseases Research Institute, Kyung Hee University Hospital, Seoul 130-701, Korea. kimsungdo@khu.ac.kr
- Publication Type:Original Article ; Comparative Study ; Research Support, Non-U.S. Gov't
- Keywords:
Enah protein, human;
glomerulonephritis, IGA;
polymorphism, single nucleotide
- MeSH:
Adolescent;
Asian Continental Ancestry Group;
Child;
Female;
Genetic Predisposition to Disease/*genetics;
Genotype;
Glomerulonephritis, IGA/*genetics;
Humans;
Korea;
Male;
Microfilament Proteins/*genetics;
*Polymorphism, Single Nucleotide;
Proteinuria/genetics
- From:Experimental & Molecular Medicine
2009;41(11):793-801
- CountryRepublic of Korea
- Language:English
-
Abstract:
The enabled homolog gene (ENAH, hMena) is abundantly expressed in mesangial tissue, and might play an important role in inflammatory processes of IgA nephropathy (IgAN). The present study was conducted to investigate the association between single nucleotide polymorphisms (SNPs) of the ENAH and childhood IgAN. We analyzed 12 SNPs of ENAH in 176 patients with childhood IgAN and 397 healthy controls. In addition, IgAN patients were dichotomized and compared with respect to several clinical and pathological parameters. Genotyping data showed significant differences between IgAN patients and controls in the frequency of rs2039620, rs12034829, and rs3795443. On comparison of patients with proteinuria to those without proteinuria (< or = or > 4 mg/m2/h), rs12043633 was significantly different between the two groups. With regard to maximum proteinuria (< or = or > 4 mg/m2/h), rs3795443, rs4653643, rs6751, rs10799319, rs7555139, rs576861, and rs487591 showed significant allele frequency differences. For patients with and without gross hematuria, rs4653643, rs6751, rs10799319, rs7555139, rs576861, and rs487591 showed significant allele frequency differences. The rs3795443 was found to be associated with progression of pathological findings. Our results suggest that ENAH polymorphisms are associated with increased susceptibility, development of proteinuria and gross hematuria, and pathological progression of childhood IgAN.
