Role of the p.E66Q variant of GLA in the progression of chronic kidney disease.

[fabry disease]

The p .E 66 Q variant of the Î±-galactosidase A gene (GLA ) is frequently found during screening for Fabry disease in dialysis patients in Japan . However , recent reports suggest that the p .E 66 Q variant is not a disease-causing mutation but is a risk factor for cerebral small -vessel occlusion . To evaluate the role of the p .E 66 Q in the progression of renal diseases , we performed a genetic association study in patients with chronic kidney disease (CKD ).In this study , we enrolled 1651 chronic hemodialysis and 941 non-dialysis patients who attended medical institutions in the Niigata Prefecture , Japan . The frequency of the p .E 66 Q allele was compared between hemodialysis and non-dialysis patients , with data from a previously published study of Japanese male newborns . In addition , we compared estimated glomerular filtration rates (eGFR ) in the presence or absence of the p .E 66 Q variant in non-dialysis patients .Of the 2233 alleles in hemodialysis and 1447 alleles in non-dialysis patients , 21 and nine harbored p .E 66 Q , respectively . However , p .E 66 Q allele frequencies did not differ between the two patient groups (0 .90 versus 0 .62 Â %, P Â =Â 0 .35 ), and no significant difference in p .E 66 Q allele frequency was observed between male hemodialysis patients and the general Japanese population (0 .52 versus 0 .63 Â %, P Â =Â 0 .67 ). Moreover , eGFR did not significantly differ between non-dialysis patients with the p .E 66 Q variant and patients with the wild-type allele (65 .5 Â Â±Â 10 .7 versus 62 .7 Â Â±Â 16 .6 Â mL /min /1 .73 Â m (2 ), P Â =Â 0 .69 ).This study indicated that the p .E 66 Q variant of GLA does not affect the progression of CKD .

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fabry disease

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