Cristian Pattaro

Well-deserved celebration in a charmy Leiden bistrot w Prof Peters

Haplomics: A Snakemake pipeline for haplotype-based association analysis in multi-omics studies Summary Genome-wide association studies (GWAS) generated thousands of loci associated with complex traits and diseases. However, to characterize of the pleiotropic, molecular and population genetic bo...

To finish with #haplomics a #snakemake pipeline to run haplotype analysis at any locus , also available on #github
www.medrxiv.org/content/10.1...

Clinical and Metabolic Signatures of FAM47E–SHROOM3 Haplotypes in a General Population Sample Genome-wide association studies (GWAS) identified a locus on chromosome 4q21.1, spanning the Family With Sequence Similarity 47 Member E (FAM47E), Starch Binding Domain 1 (STBD1), Coiled-Coil Domain C...

Followed by a deep investigation of the #SHROOM3 locus through WES-based #haplotypes
www.kireports.org/article/S246...

Systematic mediation and interaction analyses of kidney function genetic loci in a general population study Chronic kidney disease (CKD) is a complex disease affecting >10% of the global population, with large between- and within-continent variability reflecting major environmental determinants. To identify...

His massive work include a mediation and interaction analysis of CKD loci in a single population study

journals.plos.org/plosone/arti...

Ph.D. defense time! @ LUMC, our former student @dariushghasemi.bsky.social successfully defended his thesis, where he investigated several methods to interpret genetic loci for #CKD

I've also heard "my associational study is only to see whether someone should do a causal study later." The best way to create evidence for whether one should do a, potentially better, causal study later, is to do everything that that hypothetical future causal study would do.

Effect of Climate Change on Kidney Stones and Kidney Disease

Our editorial about climate change...yes, it's coming and it's not stopping...and its effect on kidney stones, AKI, CKD...(while USG remains in denial: promoting COAL!) in @kireports.bsky.social www.sciencedirect.com/science/arti... @theisn.org @nyunephro.bsky.social @thecookingdoctor.bsky.social

❓shoud eGFR equations include a correction for glucose levels? should kidney function association studies control for glucose levels? how would such a confouder play e.g. vs T2D?

▶️kidney function measurements in people not affected by #CKD should prioritize enzymatic creatinine measurements

Interference of urinary albumin-to-creatinine ratio measurement by glycosuria: clinical implications when using SGLT-2 inhibitors

Measurement error in nephrology /2:
- glucose (both serum and urine) affects serum creatinine and urinary creatinine levels
- consequences affect #CKD staging by #eGFR and #uACR

www.sciencedirect.com/science/arti...

Clinical and Analytical Impact of Moving from Jaffe to Enzymatic Serum Creatinine Methodology AbstractBackground. Identification and monitoring of chronic kidney disease (CKD) requires accurate quantification of serum creatinine. The poor specificit

Measurement error in nephrology /1:
- at low creatinine levels, Jaffé >> enzymatic creatinine
- glucose is associated with Jaffé - Enzymatic difference
#ckd

academic.oup.com/jalm/article...

Changing from the CKD-EPI to the EKFC creatinine equation to estimate glomerular filtration rate in adults in a Northern European health system ABSTRACTBackground. The European Kidney Function Consortium (EKFC) 2021 equation to estimate GFR performs as well or better than the CKD-EPI 2009 equation

Not all kidney function estimating equations work the same
(also, curious distribution of the EKFC eGFR in this paper)
academic.oup.com/ndt/article/...

#CKD #EKFC

✅ The UK Government has today granted access to half a million UK Biobank participants' coded GP data for health research.

This change will dramatically increase the power of UK Biobank's dataset to advance the diagnosis, treatment and management of conditions handled by GPs.

🚨Eurac MSCA Postdoctoral Fellowship scouting has started - get in touch if you'd like to submit a proposal with me 📝

www.eurac.edu/en/research-...

#MSCA

Assessment of adverse effects attributed to statin therapy in product labels: a meta-analysis of double-blind randomised controlled trials Adverse event data from blinded randomised trials do not support causal relationships between statin therapy and most of the conditions (including cognitive impairment, depression, sleep disturbance, ...

Evidence of absence or absence of evidence?

www.thelancet.com/journals/lan...

"The switch" - a nice story by Valentina Bergonzi on our research on #desmoplakin & #ECG arrhythmias traits

🖱️ www.eurac.edu/en/magazine/...

Preprint with the results of genome-wide eQTL analyses across 43,301 blood samples from the eQTLGen Consortium is now online! A major collaborative effort- many thanks to everyone involved, especially @robertwarmerdam.bsky.social, @ludefranke.bsky.social, and all eQTLGen collaborators!👇

Dichotomizing continuous outcomes in RCTs can be wasteful, costly, and unethical

Registration is now open!

See: csama2026.bioconductor.eu/registration...

Global and regional cancer burden attributable to modifiable risk factors to inform prevention - Nature Medicine Global cancer estimates across 185 countries show that 7.1 million new cancer cases were attributable to modifiable risk factors in 2022, with smoking, infections and alcohol consumption being the lea...

focus on modifiable risk factors
www.nature.com/articles/s41...

Excited to share our review in #KIReports – a real milestone for me!

#CKD at the Crossroads: From Failure to Future Therapies
1️⃣ Current & emerging CKD therapies
2️⃣ Why proven treatments are still underused
3️⃣ Practical checklist to help clinicians implement kidney protective therapies in practice

Thanks for writing this! It is going to be very helpful

Scientists Must Act: Five Ways You Can Stand Up to Authoritarianism Today History provides powerful lessons for the special role that scientists can and must play to defend democracy.

“Scientific integrity is essential to a functioning democracy.”
Our friends at @ucs.org explain how authoritarianism chips away at truth piece by piece—attacking science, silencing experts, and weaponizing propaganda—and lay out what scientists can do to defend democracy, starting now. ⬇️

SLiM 5: Eco-evolutionary Simulations Across Multiple Chromosomes and Full Genomes Abstract. Evolutionary simulations of multiple chromosomes, even up to the scale of full-genome simulations, are becoming increasingly important in populat

Slim 5 can now simulate genomes with multiple chromosomes like autosomes, sex chromosomes, mitochondria and chloroplast dna academic.oup.com/mbe/article/...

Heritability of intrinsic human life span is about 50% when confounding factors are addressed How heritable is human life span? If genetic heritability is high, longevity genes can reveal aging mechanisms and inform medicine and public health. However, current estimates of heritability are low...

Heritability = a statistical description of sources of interindividual variation in a specific set of people under a specific set of environmental conditions. It doesn't index a fixed underlying feature of human biology. A few lines in this paper acknowledge that but its overall framing may mislead.

#kidneygenafrica #ckdresearch #africangenomics #nephrology #genetics #capacitybuilding #scientifictraining #publichealth #researchinafrica | Peace Bassey Osim, PhD Day 1 | KidneyGen Africa Workshop 🇿🇦🧬🩺 Grateful to be part of an inspiring first day at the KidneyGenAfrica Workshop, focused on CKD phenotypes and the epidemiology of chronic kidney disease in Afric...

www.linkedin.com/posts/peace-...

Congratulations Ryo!!!

and @sfatumo.bsky.social opens the workshop in a cosy familiar environment

O. R. Tambo welcomes you in Johannesburg

KidneyGen Africa 1st workshop, here we are! 🛬

www.kidneygenafrica.org/workshops

#kidney #genetics #africa #ckd

Genetic Data From Over 20,000 U.S. Children Misused for ‘Race Science’

Incredibly important story that everyone should read.

These are not disorganized lone actors, but well-funded and powerful networks to be treated as serious threats.

They are using our work to push a eugenicist and racist agenda that is scientifically invalid and morally reprehensible.