Exp Mol Med.  2009 Nov;41(11):793-801. 10.3858/emm.2009.41.11.085.

The enabled homolog gene polymorphisms are associated with susceptibility and progression of childhood IgA nephropathy

• Hahn WH
• Suh JS
• Cho BS
• Kim SD

• KMID: 1122280
• DOI: http://doi.org/10.3858/emm.2009.41.11.085

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.

Keyword

Enah protein, human; glomerulonephritis, IGA; polymorphism, single nucleotide

MeSH Terms

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