Accès ouvert
2026
article
OpenAlex
Eemeli S. Tusa, Max Tamlander, Samuli Ripatti, Mika Harju et autres
PURPOSE: To investigate the clinical usefulness of a glaucoma polygenic risk score (PRS) for glaucoma by benchmarking published glaucoma PRSs and by assessing how the best-performing PRS performs for assessing glaucoma risk, age at onset, and glaucoma prognosis. DESIGN: Cohort study. PARTICIPANTS: …
fi
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Accès ouvert
2024
article
OpenAlex
Anu Pasanen, Minna K. Karjalainen, Matti Korppi, Mikko Hallman et autres
BACKGROUND: Acute viral bronchiolitis is a major cause of infant hospitalizations worldwide. Childhood bronchiolitis is considered a risk factor for asthma, suggesting shared genetic factors and biological pathways. Genetic risk loci may provide new insights into disease pathogenesis. METHODS: We conducted a …
fi
(code pays fourni par la source)
Accès ouvert
2024
article
OpenAlex
Nina Mars, Sini Kerminen, Max Tamlander, Matti Pirinen et autres
PURPOSE Family history (FH) and pathogenic variants (PVs) are used for guiding risk surveillance in selected high-risk women but little is known about their impact for breast cancer screening on population level. In addition, polygenic risk scores (PRSs) have been shown to …
us, fi
(code pays fourni par la source)
Accès ouvert
2023
article
OpenAlex
Anna Nurmi, Liisa M. Pelttari, Johanna I. Kiiski, Sofia Khan et autres
Abstract In search of novel breast cancer (BC) risk variants, we performed a whole-exome sequencing and variant analysis of 69 Finnish BC patients as well as analysed loss-of-function variants identified in DNA repair genes in the Finns from the Genome Aggregation Database. …
fi, us, gb, de, be
(code pays fourni par la source)
Accès ouvert
2023
article
OpenAlex
Valtteri Julkunen, Claudia Schwarz, Juho Kalapudas, Merja Hallikainen et autres
Successful development of novel therapies requires that clinical trials are conducted in patient cohorts with the highest benefit-to-risk ratio. Population-based biobanks with comprehensive health and genetic data from large numbers of individuals hold promise to facilitate identification of trial participants, particularly when …
fi, de, us, gb
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Accès ouvert
2023
article
OpenAlex
Essi Viippola, Sara Kuitunen, Rodosthenis S. Rodosthenous, Andrius Vabalas et autres
FinRegistry is a curated, nationwide, register-based data resource for developing statistical and machine learning models, performing high-throughput epidemiological analyses and deriving outcome-specific prediction models. FinRegistry data are collected across 19 registries covering public health care visits, health conditions, medications, vaccinations, laboratory responses, …
fi, us
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Accès ouvert
2023
article
OpenAlex
Jaakko Tyrmi, Tea Kaartokallio, A. Inkeri Lokki, Tiina Jääskeläinen et autres
Importance: A genetic contribution to preeclampsia susceptibility has been established but is still incompletely understood. Objective: To disentangle the underlying genetic architecture of preeclampsia and preeclampsia or other maternal hypertension during pregnancy with a genome-wide association study (GWAS) of hypertensive disorders of …
fi, us, ee, no, se
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Accès ouvert
2023
article
OpenAlex
Eliza C. Miller, Anni Kauko, Sarah E. Tom, Hannele Laivuori et autres
BACKGROUND: Adverse pregnancy outcomes (APO) contribute to higher risk of maternal cerebrovascular disease, but longitudinal data that include APO and stroke timing are lacking. We hypothesized that APO are associated with younger age at first stroke, with a stronger relationship in those …
us, fi
(code pays fourni par la source)
Accès ouvert
2023
article
OpenAlex
Hanna M. Ollila, Eilon Sharon, Ling Lin, Nasa Sinnott-Armstrong et autres
Narcolepsy type 1 (NT1) is caused by a loss of hypocretin/orexin transmission. Risk factors include pandemic 2009 H1N1 influenza A infection and immunization with Pandemrix®. Here, we dissect disease mechanisms and interactions with environmental triggers in a multi-ethnic sample of 6,073 cases …
fi, us, de, cn, kr, fr, nl, es, no, it, ie, jp, ca, tw, dk, gb
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Accès ouvert
2023
erratum
OpenAlex
Mitja Kurki, Juha Karjalainen, Priit Palta, Timo P. Sipilä et autres
In the version of this article initially published, author Marianna Niemi, now affiliated with the TAUCHI Research Center and the Faculty of Medicine and Health Technology in Tampere University, was mistakenly affiliated with TAUCHI Research Center within the Faculty of Information Technology …
us, fi, ee, de, gb, se
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Accès ouvert
2023
article
OpenAlex
Eeva Sliz, Jaakko Tyrmi, Nilüfer Rahmioğlu, Krina T. Zondervan et autres
Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide …
fi, gb, us, de, be
(code pays fourni par la source)
Accès ouvert
2023
article
OpenAlex
Mitja Kurki, Juha Karjalainen, Priit Palta, Timo P. Sipilä et autres
Abstract Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived the founding bottleneck rather than being distributed over …
us, fi, ee, de, gb, se
(code pays fourni par la source)