Caragh P. Stapleton
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View article: FC033: Genome-Wide Association Meta-Analysis Identifies Novel Loci for Kidney Failure
FC033: Genome-Wide Association Meta-Analysis Identifies Novel Loci for Kidney Failure Open
BACKGROUND AND AIMS The genetics of kidney function has been extensively studied, but since these analyses have been done mostly in populations with normal or mildly impaired kidney function, it is still unknown whether variants linked to …
View article: A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam
A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam Open
Objective Levetiracetam (LEV) is an effective antiseizure medicine, but 10%–20% of people treated with LEV report psychiatric side‐effects, and up to 1% may have psychotic episodes. Pharmacogenomic predictors of these adverse drug reaction…
View article: The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project
The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project Open
View article: Role of Common Genetic Variants for Drug-Resistance to Specific Anti-Seizure Medications
Role of Common Genetic Variants for Drug-Resistance to Specific Anti-Seizure Medications Open
Objective: Resistance to anti-seizure medications (ASMs) presents a significant hurdle in the treatment of people with epilepsy. Genetic markers for resistance to individual ASMs could support clinicians to make better-informed choices for…
View article: The relationship between donor-recipient genetic distance and long-term kidney transplant outcome
The relationship between donor-recipient genetic distance and long-term kidney transplant outcome Open
Background: We set out to quantify shared genetic ancestry between unrelated kidney donor-recipient pairs and test it as a predictor of time to graft failure. Methods: In a homogenous, unrelated, European cohort of deceased-donor kidney t…
View article: Supplementary Information: The relationship between donor-recipient genetic distance and long-term kidney transplant outcome.
Supplementary Information: The relationship between donor-recipient genetic distance and long-term kidney transplant outcome. Open
Supplementary information and results for "The relationship between donor-recipient genetic distance and long-term kidney transplant outcome."
View article: Supplementary table 9.tab
Supplementary table 9.tab Open
Supplementary table 9. IBS per genic region vs time to graft failure, adjusted for significant clinical covariates. IBS = identity by state, coef = regression coefficient, HR = hazard ratio,se(coef) = standard error of regression coefficie…
View article: Supplementary table 14.tab
Supplementary table 14.tab Open
Supplementary table 14. IBS per transmembrane encoding genic region vs time to graft failure, adjusted for clinical covariates. IBS = identity by state, coef = regression coefficient, HR = hazard ratio,se(coef) = standard error of regressi…
View article: Supplementary table 13.tab
Supplementary table 13.tab Open
Supplementary table 13. IBD per transmembrane encoding genic region vs time to graft failure, adjusted for clinical covariates. IBD = identity by descent, coef = regression coefficient, HR = hazard ratio,se(coef) = standard error of regres…
View article: Supplementary Information - shared ancestry manuscript.docx
Supplementary Information - shared ancestry manuscript.docx Open
Supplementary information and results for "The relationship between donor-recipient genetic distance and long-term kidney transplant outcome." This includes additional affiliations, methods and results.
View article: Supplementary table 10.tab
Supplementary table 10.tab Open
Supplementary table 10. IBD per genic region vs time to graft failure, adjusted for significant clinical covariates. IBD = identity by descent, coef = regression coefficient, HR = hazard ratio,se(coef) = standard error of regression coeffi…
View article: Supplementary table 11.tab
Supplementary table 11.tab Open
Supplementary table 11. IBS per genic region vs time to graft failure, not adjusted for clinical covariates. IBS = identity by state, coef = regression coefficient, HR = hazard ratio,se(coef) = standard error of regression coefficient; P= …
View article: Supplementary table 15.tab
Supplementary table 15.tab Open
Supplementary table 15. IBD per transmembrane encoding genic region vs time to graft failure, not adjusted for clinical covariates. IBD = identity by descent, coef = regression coefficient, HR = hazard ratio,se(coef) = standard error of re…
View article: Supplementary table 16.tab
Supplementary table 16.tab Open
Supplementary table 16. IBS per transmembrane encoding genic region vs time to graft failure, not adjusted for clinical covariates. IBS = identity by state, coef = regression coefficient, HR = hazard ratio,se(coef) = standard error of regr…
View article: Supplementary table 12.tab
Supplementary table 12.tab Open
Supplementary table 12. IBD per genic region vs time to graft failure, not adjusted for clinical covariates. IBD = identity by descent, coef = regression coefficient, HR = hazard ratio,se(coef) = standard error of regression coefficient; P…
View article: Utility of Genomic Testing after Renal Biopsy
Utility of Genomic Testing after Renal Biopsy Open
Background: Renal biopsy is the mainstay of renal pathological diagnosis. Despite sophisticated diagnostic techniques, it is not always possible to make a precise pathological diagnosis. Our aim was to identify a genetic caus…
View article: The impact of donor and recipient common clinical and genetic variation on estimated glomerular filtration rate in a European renal transplant population
The impact of donor and recipient common clinical and genetic variation on estimated glomerular filtration rate in a European renal transplant population Open
View article: A genome‐wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine
A genome‐wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine Open
Summary Objective To ascertain the clinical and genetic factors contributing to carbamazepine‐ and oxcarbazepine‐induced hyponatremia ( COIH ), and to carbamazepine ( CBZ ) metabolism, in a retrospectively collected, cross‐sectional cohort…
View article: Polygenic risk score as a determinant of risk of non-melanoma skin cancer in a European-descent renal transplant cohort
Polygenic risk score as a determinant of risk of non-melanoma skin cancer in a European-descent renal transplant cohort Open
Renal transplant recipients have an increased risk of non-melanoma skin cancer (NMSC) compared to in the general population. Here, we show polygenic risk scores (PRS) calculated from genome-wide association studies (GWAS) of NMSC in a gene…
View article: The genetic determinants of renal allograft rejection
The genetic determinants of renal allograft rejection Open
View article: NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD
NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD Open
Background Nephronophthisis (NPH) is the most prevalent genetic cause for ESRD in children. However, little is known about the prevalence of NPH in adult-onset ESRD. Homozygous full gene deletions of the NPHP1 gene encoding nephrocystin-1 …
View article: Long- and short-term outcomes in renal allografts with deceased donors: A large recipient and donor genome-wide association study
Long- and short-term outcomes in renal allografts with deceased donors: A large recipient and donor genome-wide association study Open
View article: Polygenic risk score as a determinant risk of non-melanoma skin cancer post-kidney transplantation
Polygenic risk score as a determinant risk of non-melanoma skin cancer post-kidney transplantation Open
Background
Multiple genetic loci have been identified for non-melanoma skin cancer (NMSC) in the general population. Polygenic risk score (PRS) was defined as the sum of all alleles associated with a trait weighted by the effect size o…
Multiple genetic loci have been identified for non-melanoma skin cancer (NMSC) in the general population. Polygenic risk score (PRS) was defined as the sum of all alleles associated with a trait weighted by the effect size o…
View article: A Donor and Recipient Genome-wide Association Study of Renal Allograft Function
A Donor and Recipient Genome-wide Association Study of Renal Allograft Function Open
Background
Previous studies have suggested the influence of common genetic variation on renal transplant outcome. Our aim was to expand on these studies and examine single variant effects of both donor and recipient genotypes on graft …
Previous studies have suggested the influence of common genetic variation on renal transplant outcome. Our aim was to expand on these studies and examine single variant effects of both donor and recipient genotypes on graft …
View article: Using omics to explore complications of kidney transplantation
Using omics to explore complications of kidney transplantation Open
The importance of genetic and biochemical variation in renal transplant outcomes has been clear since the discovery of the HLA in the 1950s. Since that time, there have been huge advancements in both transplantation and omics. In recent ye…
View article: Clinical manifestations of prune belly syndrome
Clinical manifestations of prune belly syndrome Open