Family-Based Association Study Showing that Immunoglobulin A Nephropathy Is Associated with the Polymorphisms 2093C and 2180T in the 3′ Untranslated Region of the Megsin Gene

Abstract

Abstract. Immunoglobulin A nephropathy (IgAN) is considered to be a multifactorial disease with genetic and environmental factors contributing to its pathogenesis. The genes involved in susceptibility and progression of the disease have not yet been clearly elucidated. Megsin (SERPINB7) is an important candidate gene, predominantly expressed in glomerular mesangium and upregulated in IgAN. To investigate the potential role of this and other genes in IgAN, patients with biopsy-proven IgAN were recruited, as were family members, for a family-based association study. The genotypes of the polymorphisms C2093T and C2180T within the 3' untranslated region of the gene were determined by polymerase chain reaction-restriction fragment length polymorphism and direct sequencing. The results were analyzed by transmission disequilibrium test (TDT) and haplotype relative risk (HRR).

Association of Megsin2093C/T, 2180C/TandC25663Ggene polymorphism with the risk of IgA nephropathy

“…Two studies 3,7 were performed in Caucasians, and two 9,10 in Asians. A total of 990 cases and 678 controls were included.…”

“…Four studies 3,7,9,10 were identified for the analysis of the association between 2093C/T polymorphism and IgAN risk (Table 1). Two studies 3,7 were performed in Caucasians, and two 9,10 in Asians.…”

“…Of these, 106 publications were excluded according to the inclusion and exclusion criteria. Six papers 3,7,[9][10][11][12] were included in our analysis for the association between megsin gene polymorphisms and IgAN risk ( Figure 1). All papers were published in English.…”

“…However, the results were inconsistent among reported studies. 3,7,[9][10][11][12] An improved understanding of this issue may have important clinical implications provided the possibility that the megsin gene polymorphism may be genetic markers for the onset of IgAN.…”

TRAC Variants Associate with IgA Nephropathy

“…40 IgAN was diagnosed by renal biopsy according to the World Health Organization criteria. Systemic lupus erythematosis, Henoch-Schonlein purpura, and hepatic diseases were excluded by detailed clinical history, examination, and negative laboratory findings for hypocomplementemia, anti-DNA antibody or hepatitis B virus surface antigen.…”