Comment on: Biason-Lauber A, Boehm B, Lang-Muritano M, et al (2005) Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity. Diabetologia 48:900–905

Abstract

Comment on: Biason-Lauber A, Boehm B, Lang-Muritano M, et al (2005) Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity. Diabetologia 48:900-905

Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families

“…Ten SNPs were genotyped in the PAX4 region, seven of which were successful on both the platforms. None were associated with T1D (Table 6), which is in agreement with several reports in the literature 43–45…”

“…This has been illustrated earlier in the first GWAS of T1D 8,64. The need for these data has also been shown to be critical in a recent T1DGC experiment, the MHC Fine Mapping project, in which inspection of the SNP signal intensities eliminated nine SNPs that were apparently associated with T1D despite having filtered the data by several conservative QC criteria 45. Despite all other QC procedures imposed, there remained inconsistent associations between platforms, which in some instances was sufficient to cause a difference in interpretation of results.…”

No association of the IRS1 and PAX4 genes with type I diabetes

“…As with the case of IRS1 , SNPs in PAX4 have been associated with T2D in both Japanese and African-American populations 19–23. A PAX4 missense SNP (rs712701) has been reported to be associated with T1D;24 however, subsequent studies were not able to replicate this finding in Finnish, Hungarian, UK, US, or Danish populations 25–28. Further, there was no evidence for an association of T1D with the region on chromosome 7q32 containing PAX4 in recent genome-wide association scans of T1D 7,14,15.…”