ABSTRACT
Objective:To explore the associations of MYH9 gene polymorphisms with ESRD in Han population in the fragment between exon 23 and 24.Methods:A hospital-based case control study was carried out including 180 patients and 118 controls in this study.Single nucleotide polymorphisms of MYH9 gene were determined using PCR sequencing,and the haplotypes were calculated using phase software(version 2.0),and transcription factor binding sites were predicted using AliBaba2.Univariate analysis was conducted for exploring the associations between polymorphisms and ESRD.Results: Five newly discovered and three previously reported SNP loci [Rs4821480(MYH9-92),Rs2032487(MYH9-273) and Rs4821481(MYH9-787)]were homozygote genotyped by bidirectional se-quencing.Among newly discovered polymorphisms,two were found at the 489 locus(G→A)and the 616 locus(A→C) in the 901 bp fragment which located in the intron 23 of MYH9 gene.A G489A transversion was very likely a risk mutation contribute to the occurrence of ESRD(P=0.013).No association was observed between ESRD and three previous reported sites [Rs4821480(MYH9-92),Rs2032487(MYH9-273)and Rs4821481(MYH9-787)].The most common haplotype was TCTCGGAT,which was less frequent in the cases than that in the controls.Moreover, TCTCGGCT and TCTCAGAT haplotypes were more in the cases than that in the controls.The number of transcription binding sites increased from 82 ( wild ) to 85 ( mutation ) in the 23th intron of MYH9 gene.Conclusion:Polymorphisms of MYH9 at intron 23 may influence the prevalence of ESRD in Chinese Han population and TCTCGGAT haplotype may be one protective haplotype.TCTCGGCT and TCTCAGAT may be risk haplotypes attributed to ESRD.The polymorphism of MYH9 at the 23th intron may company with the amount alteration of transcription factor binding sites.