Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and ade novo mutation in Hellenic polycystic kidney disease families

Abstract Purpose Observational studies have associated obesity with chronic kidney disease (CKD) and arterial stiffness, but the causality remains unclear. We aimed to investigate the causality of obesity with CKD and arterial stiffness using Mendelian randomization (MR) analysis. Methods We genotyped 14 body mass index (BMI)-associated variants validated in East Asians in 11384 Chinese adults. A genetic risk score based on the 14 variants and the 14 individual single nucleotide polymorphisms were respectively used as instrumental variables (IVs). CKD was defined as estimated glomerular filtration rate <60 mL/min/1.73 m 2. Arterial stiffness was defined as brachial-ankle pulse wave velocity >1550 cm/s. Results Using the genetic risk score as the IV, we demonstrated causal relations of each 1-standard deviation increment in BMI with CKD (odds ratio [OR]: 2.36; 95% confidence interval [CI]: 1.11-5.00) and arterial stiffness (OR: 1.71; 95% CI: 1.22-2.39). Using the 14 single nucleotide polymorphisms individually as IVs, each 1-standard deviation increment in BMI casually associated with CKD (OR: 2.58; 95% CI: 1.39-4.79) and arterial stiffness (OR: 1.87; 95% CI: 1.24-2.81) in the inverse-variance weighted analysis, and MR-Egger regression revealed no evidence of horizontal pleiotropy (Both P for intercept≥0.34). The causality between obesity and CKD was validated in two-sample MR analysis among Europeans (681275 of Genetic Investigation of ANthropometric Traits and 133413 of CKD Genetics). Conclusions This study provided novel insights into causality of obesity with CKD and arterial stiffness, highlighting the importance of weight management for primary prevention and control of subclinical vascular diseases.

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Single nucleotide polymorphisms in the D-loop region of mitochondrial DNA is associated with the kidney survival time in chronic kidney disease patients

Renal Failure ◽

10.3109/0886022x.2014.976132 ◽

2014 ◽

Vol 37 (1) ◽

pp. 108-112 ◽

Cited By ~ 3

Author(s):

Jinsheng Xu ◽

Zhanjun Guo ◽

Yaling Bai ◽

Junxia Zhang ◽

Liwen Cui ◽

...

Keyword(s):

Chronic Kidney Disease ◽

Mitochondrial Dna ◽

Kidney Disease ◽

Single Nucleotide Polymorphisms ◽

Survival Time ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Loop Region ◽

D Loop

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Prevalence of autosomal dominant polycystic kidney disease in Persian and Persian-related cats in Brazil

Brazilian Journal of Biology ◽

10.1590/1519-6984.227131 ◽

2020 ◽

Author(s):

J. M. Guerra ◽

N. C. Cardoso ◽

A. G. T. Daniel ◽

L. F. Onuchic ◽

B. Cogliati

Keyword(s):

Kidney Disease ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Polycystic Kidney ◽

Single Nucleotide ◽

Pkd1 Gene ◽

Pathogenic Variation ◽

Pcr Rflp ◽

Autosomal Dominant Polycystic Kidney ◽

Selection Of

Abstract Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disease in cats. However, scarce data on its prevalence are available in Brazil. Persian cats and Persian-related breeds were assessed by molecular genotyping for a C to A transversion in exon 29 of PKD1 gene to determine ADPKD prevalence in a Brazilian population. Genomic DNA extracted from peripheral whole blood or oral swabs samples was used to amplify exon 29 of PKD1 gene employing a PCR-RFLP methodology. From a total of 616 animals, 27/537 Persian and 1/17 Himalayan cats showed the single-nucleotide variant (C to A) at position 3284 in exon 29 of feline PKD1. This pathogenic variation has been identified only in heterozygous state. The prevalence of ADPKD in Persian cats and Persian-related breeds was 5.03% and 1.6%, respectively. There was no significant association between feline breed, gender or age with ADPKD prevalence. Of note, the observed ADPKD prevalence in Persian cats and Persian-related breeds in Brazil was lower than the ones reported in other parts of the world. This finding may be related to genetic counseling and consequent selection of ADPKD-free cats for reproduction.

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