Lack of association between NPHS2 gene polymorphisms and sporadic IgA nephropathy

• Published in: Nephrology (Carlton, Vic.) Vic.), 2007-08, Vol.12 (4), p.371-375
• Main Authors: MAO, JIANHUA, DU, LIZHONG, GU, WEIZHONG, DAI, YUWEN, LIU, AIMIN, XIA, YONGHUI, ZHANG, YANG
• Format: Article
• Language: English
• Subjects: Adolescent; Child; Child, Preschool; Female; Glomerulonephritis, IGA - genetics; Humans; IgA nephropathy; Intracellular Signaling Peptides and Proteins - genetics; Male; Membrane Proteins - genetics; pathogenesis; podocin; polymorphism; Polymorphism, Genetic
• ISSN: 1320-5358; 1440-1797
• DOI: 10.1111/j.1440-1797.2007.00803.x

Aim:  IgA nephropathy (IgAN) is the most common primary form of glomerulonephritis worldwide. In the present study, the genetic structure of the NPHS2 gene was studied to verify if podocin plays a role in the pathogenesis of IgAN. Methods:  Clinical characteristics and DNA samples were collected from 26 Chinese children with sporadic IgAN. A direct sequencing was performed after polymerase chain reaction amplification to all the eight exons of the NPHS2 gene. Results:  Three synonymous variants as known polymorphisms (954T→C homozygous, 1038A→G heterozygous and homozygous) were found in 3, 4 and 1 patients, respectively. There was no significant difference in the genotypic and allelic frequencies of 954T > C and 1038A > G polymorphisms between the patients and normal controls. Conclusion:  No significant difference in the genotypic and allelic frequencies of the identified 954T > C and 1038A > G polymorphisms between the patients and normal controls was found.