Haplotype construction of the FRDA gene and evaluation of its role in type II diabetes.

摘要: A GAA-repeat in the X25 gene is causing Friedreich's ataxia (FRDA), a common neurodegenerative disease and >20% of FRDA patients develop type II diabetes (T2D). Linkage has previously been detected between T2D chromosome 9p13–q21, region that harbours gene, but association studies this have contradicting. Here, we examined whether genetic variation associated with risk for T2D. The 18 single nucleotide polymorphisms (SNPs) covering were genotyped 220 trios which affected offspring had abnormal glucose tolerance. Any nominally significant findings an independent sample consisting 523 individuals 326 healthy controls. Previously reported results analysed together our data using meta-analysis approach. There was no susceptibility study, supported by including all previous publications. One SNP (rs2498429), 8.2 kb downstream X25, (P=0.02) showed trend same direction case–controls (P=0.08; combined permuted P=0.01). Further analysis nine-marker haplotype containing rare allele rs2498429 (P<0.01) as well (P=0.03). In conclusions, study excludes role within instead suggests may increase