Today is #LpaAwarenessDay. Let's celebrate by learning! Visit our dedicated website for topic-related content: https://t.co/ol5XVgC21d #KnowLpa @ProfKausikRay

There's no end of education. ✏️ That's why I attended a super intensive course of the #GfH to improve my knowledge in #cytogenetics and #prenataldiagnostics. 👩🏻‍🔬🧬 If your also becoming a specialist human geneticist, take the chance, the course is incredible! #fachhumangenetiker

(1/3)🧬💻 Join the Genome Informatics team at the Institute of Genetic Epidemiology, Medical University of Innsbruck @imed_tweets🎓 I am seeking a PhD Student to work together on polygenic risk scores and genetic data analysis 🚀 https://t.co/fzsx8Q9TYq

👉Frequent questions and responses on the 2022 Lp(a) consensus statement of the @society_eas 🤔This review addresses 30 questions about Lp(a) epidemiology, its contribution to CV risk, Lp(a) measurement, risk factor management and therapeutic options https://t.co/dYGTgPWWmm

I PhDid it! 👩🏻‍🔬👩🏻‍🎓 Thanks to everyone who joined this journey and contributed to this milestone!

Signed, sealed, delivered.

Watch out for Prof. Vecna

On my way back from #eshg2022 🚞 and very near to despair on the #10xGenomics rubik's cube. 🤯

We are clearly enjoying our time at the EAS 😻👌🏻 #togetheratEAS2022 #EASCongress2022

9/9 Further thank goes to our cooperation partners: #GCKD and KORA. @imedtweets. Supported by @FWF_at

8/9 Many @KronenbergLab members contributed to this work! Thanks to all of you! 👏 @ClaudiaLamina, @SilviaDiMaio4, @seppinho, @petanska, @lukfor, Gertraud Streiter (no twitter), @KronenbergLab, @stncsn

7/9 ‼️ Are you at the #EASCongress2022? 🫀 Do not miss my poster (board number 078) about this SNP interaction ↔️ in the LPA gene and pass by. Looking forward to nice and inspiring conversations! 💬

6/9 As 83% of rs41272110 carriers carry also KIV-2 4925G>A the #CADrisk increase⤴️affects 4% of the population. This work draws attention to account for interactions ↔️between LPA variants, as these can mask effects on #CAD risk.

5/9 What about the impact on #CAD? @SilviaDiMaio4 answered this question💡: Survival analysis on #UKBiobank exome data (n=186,088) showed no impact of rs41272110 alone on #CAD (mind: it’s not iso-adjusted). BUT: adjusting rs41272110 for KIV-2 4925G>A increases⤴️#CAD risk by 10%.

4/9 ➡️BUT: stratifying individuals by genotype combinations finally reveals that p.Thr3888Pro alone without 4925G>A background increases ⤴️of 14.3 mg/dL.💥 (Figure from KORAF4)

3/9 In non-isoform adjusted quantile regression p.Thr3888Pro indeed has no effect (-0.06 mg/dL). But LPA SNPs often occur only on certain #apolipoproteinA isoforms. Indeed isoform-adjustment strongly changes the effect: ➡️the variant appeared to decrease⤵️Lp(a) by 12.3 mg/dL.

2/9 Inconsistent effects of p.Thr3888Pro on #lipoproteinA have been reported over years. We noted similar MAF and isoform distribution to 4925G>A and ➡️found a significant SNP interaction between both SNPs (p=1.26e-05 to 3.03e-04) in >10,000 individuals from #GCKD, KORAF3 and F4

Recently we published another jigsaw piece🧩of #lipoproteinA regulation in @ATHjournal. ➡️The effect of the well-known LPA missense variant p.Thr3888Pro (rs41272110) on #lipoproteinA and #CAD depends on the genotype of the KIV-2 splice variant 4925G>A. #EASCongress2022 (1/9)

Excited to see my 1⃣st first-author paper out in @ATHjournal: 🧬 It's about the two faces of a well-known #lipoproteinA missense variant, rs41272110 (p.Thr3888Pro), and its SNP interaction with the KIV-2 4925G>A 🧬 Read more below ⬇️ and stay tuned for the twittorial 💬

Need to run a GWAS? Consider running it with the nf-gwas pipeline built by @lukfor and @seppinho! It has many advantages like an automated report 🥳 Head over to @seppinho for details 👇You never used the command line before? Here is my beginner's guide 🤓