Apolipoprotein L1 variability is associated with increased risk of renal failure in the Czech population
Jazyk angličtina Země Nizozemsko Médium print-electronic
Typ dokumentu časopisecké články
PubMed
35085711
DOI
10.1016/j.gene.2022.146248
PII: S0378-1119(22)00067-1
Knihovny.cz E-zdroje
- Klíčová slova
- Apolipoprotein L1, Haplotype, Polymorphism, Renal failure,
- MeSH
- apolipoprotein L1 genetika MeSH
- černoši genetika MeSH
- cyklin-dependentní kinasa 5 genetika MeSH
- dospělí MeSH
- genetická predispozice k nemoci * MeSH
- genetická variace * MeSH
- haplotypy genetika MeSH
- jednonukleotidový polymorfismus genetika MeSH
- lidé středního věku MeSH
- lidé MeSH
- mutace INDEL genetika MeSH
- renální insuficience genetika MeSH
- restrikční mapování MeSH
- rizikové faktory MeSH
- senioři MeSH
- studie případů a kontrol MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika MeSH
- Názvy látek
- APOL1 protein, human MeSH Prohlížeč
- apolipoprotein L1 MeSH
- CDK5 protein, human MeSH Prohlížeč
- cyklin-dependentní kinasa 5 MeSH
BACKGROUND: With stage 5 chronic kidney disease (CKD5) more prevalent in the Czech Republic than in most European countries, genetic susceptibility is potentially implicated. METHODS: In a group of 1489 CKD5 kidney transplantation patients (93% with complete clinical characteristics; mean age 52.0 years, 37% females) and 2559 healthy controls (mean age 49.0 years, 51% females), we examined the prevalence of six APOL1 SNPs (rs73885319, rs71785313, rs13056427, rs136147, rs10854688 and rs9610473) and one newly detected 55-nucleotide insertion/deletion polymorphism. RESULTS: The rs73885319 and rs71785313 variants were monomorphic in the Czech Caucasian population. Genotype frequencies of the three SNPs examined (rs13056427, rs136147 and rs9610473) were almost identical in patients and controls (all P values were between 0.39 and 0.91). Minor homozygotes of rs10854688 were more common between the patients (13.2%) than in controls (10.7%) (OR [95% CI]; 1.32 [1.08-1.64]; P < 0.01). Prevalence of the newly detected 55-bp APOL1 deletion was significantly higher in CKD5 patients (3.0% vs. 1.7%; OR [95% CI]; 1.80 [1.16-2.80]; P < 0.01) compared to controls. Frequencies of some individual APOL1 haplotypes were borderline different between patients and controls. CONCLUSION: We found an association between rs10854688 SNP within the APOL1 gene and end-stage renal disease in the Czech Caucasian population. Further independent studies are required before a conclusive association between the newly detected APOL1 insertion/deletion polymorphism and CKD5 can be confirmed.
Experimental Medicine Centre Institute for Clinical and Experimental Medicine Prague Czech Republic
Transplant Laboratory Institute for Clinical and Experimental Medicine Prague Czech Republic
Transplantation Centre Institute for Clinical and Experimental Medicine Prague Czech Republic
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