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Removed unnecessaary infro from bib
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Schmytzi committed Feb 5, 2024
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Expand Up @@ -35,11 +35,9 @@ @misc{vat
@article{kierczak2022,
abstract = {Despite the success of genome-wide association studies, much of the genetic contribution to complex traits remains unexplained. Here, we analyse high coverage whole-genome sequencing data, to evaluate the contribution of rare genetic variants to 414 plasma proteins. The frequency distribution of genetic variants is skewed towards the rare spectrum, and damaging variants are more often rare. We estimate that less than 4.3\% of the narrow-sense heritability is expected to be explained by rare variants in our cohort. Using a gene-based approach, we identify Cis-associations for 237 of the proteins, which is slightly more compared to a {GWAS} (N = 213), and we identify 34 associated loci in Trans. Several associations are driven by rare variants, which have larger effects, on average. We therefore conclude that rare variants could be of importance for precision medicine applications, but have a more limited contribution to the missing heritability of complex diseases.},
author = {Kierczak, Marcin and Rafati, Nima and H{\"o}glund, Julia and Gourl{\'e}, Hadrien and Lo Faro, Valeria and Schmitz, Daniel and Ek, Weronica E. and Gyllensten, Ulf and Enroth, Stefan and Ekman, Diana and Nystedt, Bj{\"o}rn and Karlsson, Torgny and Johansson, {\AA}sa},
date = {2022-05-09},
doi = {10.1038/s41467-022-30208-8},
file = {Full Text PDF:/Users/dansc755/Zotero/storage/HGVAE5E6/Kierczak et al. - 2022 - Contribution of rare whole-genome sequencing varia.pdf:application/pdf;Snapshot:/Users/dansc755/Zotero/storage/NUSGBUEI/s41467-022-30208-8.html:text/html},
issn = {2041-1723},
journaltitle = {Nat Commun},
keywords = {Biomarkers, Next-generation sequencing, Genome-wide association studies},
Expand All @@ -49,11 +47,10 @@ @article{kierczak2022
pages = {2532},
rights = {2022 The Author(s)},
title = {Contribution of rare whole-genome sequencing variants to plasma protein levels and the missing heritability},
url = {https://www.nature.com/articles/s41467-022-30208-8},
url = {https://doi.org/10.1038/s41467-022-30208-8},
urldate = {2022-09-07},
volume = {13},
bdsk-url-1 = {https://www.nature.com/articles/s41467-022-30208-8},
bdsk-url-2 = {https://doi.org/10.1038/s41467-022-30208-8}}
}
Expand All @@ -63,14 +60,12 @@ @article{johansson2022
issn = {2472-1972},
url = {https://doi.org/10.1210/jendso/bvac100},
doi = {10.1210/jendso/bvac100},
abstract = {High levels of estrogen are associated with increased risk of breast and endometrial cancer and have been suggested to also play a role in the development of ovarian cancer. Cancerogenic effects of estradiol, the most prominent form of estrogen, have been highlighted as a side effect of estrogen-only menopausal hormone therapy. However, whether high levels of endogenous estrogens, produced within the body, promote cancer development, has not been fully established.We aimed to examine causal effects of estradiol on breast, endometrial, and ovarian cancer.Here we performed a two-sample Mendelian randomization ({MR}) to estimate the effect of endogenous estradiol on the risk of developing breast, endometrial, and ovarian cancer, using the {UK} Biobank as well as 3 independent cancer cohorts.Using 3 independent instrumental variables, we showed that higher estradiol levels significantly increase the risk for ovarian cancer ({OR} = 3.18 [95\% {CI}, 1.47-6.87], P = 0.003). We also identified a nominally significant effect for {ER}-positive breast cancer ({OR} = 2.16 [95\% {CI}, 1.09-4.26], P = 0.027). However, we could not establish a clear link to the risk of endometrial cancer ({OR} = 1.93 [95\% {CI}, 0.77-4.80], P = 0.160).Our results suggest that high estradiol levels promote the development of ovarian and {ER}-positive breast cancer.},
pages = {bvac100},
number = {8},
journaltitle = {Journal of the Endocrine Society},
author = {Johansson, Åsa and Schmitz, Daniel and Höglund, Julia and Hadizadeh, Fatemeh and Karlsson, Torgny and Ek, Weronica E},
urldate = {2022-09-07},
date = {2022-08-01},
file = {Full Text PDF:/Users/dansc755/Zotero/storage/MRBHR3B9/Johansson et al. - 2022 - Investigating the Effect of Estradiol Levels on th.pdf:application/pdf;Snapshot:/Users/dansc755/Zotero/storage/B55QQTBU/6619509.html:text/html},
}
@article{Schmitz2023,
Expand All @@ -85,6 +80,5 @@ @article{Schmitz2023
issn = {1943-2631},
doi = {10.1093/genetics/iyad179},
url = {https://doi.org/10.1093/genetics/iyad179},
eprint = {https://academic.oup.com/genetics/article-pdf/225/4/iyad179/54022689/iyad179.pdf},
}

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