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Preprint ARTICLE | doi:10.20944/preprints202207.0305.v1

Polygenic Risk Score and Risk Factors for Gestational Diabetes

Marija Majda Perisic, Klemo Vladimir, Mario Storga, Ali Mostashari, Raya Khanin

Subject: Medicine And Pharmacology, Obstetrics And Gynaecology Keywords: gestational diabetes; pregnancy; polygenic risk score; gwas; machine learning

Online: 20 July 2022 (12:09:41 CEST)

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Preprint ARTICLE | doi:10.20944/preprints201809.0206.v1

An analysis on Dual Diagnosis Revealed a Possible deviation of Schizophrenia Polygenic Risk Score by Mexican Amerindian Ancestry

Jose Jaime Martínez-Magaña, Thelma Beatriz Gonzalez-Castro, Alma Delia Genis-Mendoza, Carlos Alfonso Tovilla-Zarate, Isela Juarez-Rojop, Erasmo Saucedo-Uribe, Nuria Lanzagorta, Michael Escamilla, Luis Macías-Kauffer, Humberto Nicolini

Subject: Medicine And Pharmacology, Psychiatry And Mental Health Keywords: Mexican Amerindian, Dual diagnosis, polygenic risk scores, psychiatric diseases, bipolar disorder, schizophrenia, substance use disorder

Online: 12 September 2018 (01:20:54 CEST)

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Preprint ARTICLE | doi:10.20944/preprints201810.0171.v3

Clinical Relevance of Genome-Wide Polygenic Score may Be Less than Claimed

David Curtis

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: genome-wide polygenic score; coronary artery disease; AUC

Online: 6 December 2018 (07:06:32 CET)

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Preprint ARTICLE | doi:10.20944/preprints202102.0542.v1

Divergent Selection on Height and Cognitive Ability: Evidence from Both Genetic Distance (Fst) and Polygenic Scores

Davide Piffer

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: polygenic selection, gwas, polygenic scores, intelligence, height

Online: 24 February 2021 (10:13:39 CET)

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Preprint ARTICLE | doi:10.20944/preprints201905.0284.v1

Proprietary Algorithms for Polygenic Risk: Protecting Scientific Innovation or Hiding the Lack of It?

A. Cecile J.W. Janssens

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: personal genomics, DNA, polygenic, risk, regulation, discrimination, calibration, prediction, transparency, autonomy

Online: 23 May 2019 (16:23:57 CEST)

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Preprint ARTICLE | doi:10.20944/preprints201701.0127.v3

Evidence for Recent Polygenic Selection on Educational Attainment and Underlying Cognitive Abilities Inferred from GWAS Hits: A Monte Carlo Simulation Using Random SNPs

Davide Piffer

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: educational attainment; polygenes; polygenic selection; IQ; GWAS

Online: 23 May 2017 (17:08:33 CEST)

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Preprint ARTICLE | doi:10.20944/preprints201611.0047.v1

Evidence for Recent Polygenic Selection on Educational Attainment Inferred from GWAS Hits

Davide Piffer

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: educational attainment; polygenes; polygenic selection; GWAS

Online: 8 November 2016 (10:08:15 CET)

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Preprint ARTICLE | doi:10.20944/preprints201706.0039.v1

Evidence for Recent Polygenic Selection on Educational Attainment and Intelligence Inferred from GWAS Hits: A Replication of Previous Findings Using Recent Data

Davide Piffer

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: educational attainment; polygenes; polygenic selection; IQ; GWAS

Online: 8 June 2017 (08:11:07 CEST)

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Preprint ARTICLE | doi:10.20944/preprints201710.0169.v1

A Longitudinal Approach to Biological Psychiatric Research: The PsyCourse Study

Monika Budde, Heike Anderson-Schmidt, Katrin Gade, Daniela Reich-Erkelenz, Kristina Adorjan, Janos L. Kalman, Fanny Senner, Sergi Papiol, Till F. M. Andlauer, Ashley L. Comes, Eva C. Schulte, Farah Klöhn-Saghatolislam , Anna Gryaznova, Maria Hake, Kim Bartholdi, Laura Flatau, Markus Reitt, Silke Quast, Sophia Stegmaier, Milena Meyers, Barbara Emons, Ida Sybille Haußleiter, Georg Juckel, Vanessa Nieratschker, Udo Dannlowski, Max Schmauß, Jörg Zimmermann, Jens Reimer, Sybille Schulz, Jens Wiltfang, Eva Reininghaus, Ion-George Anghelescu, Volker Arolt, Bernhard T. Baune, Carsten Konrad, Andreas Thiel, Andreas J. Fallgatter, Christian Figge, Martin von Hagen, Manfred Koller, Fabian U. Lang, Moritz E. Wigand, Thomas Becker, Markus Jäger, Detlef E. Dietrich, Sebastian Stierl, Harald Scherk, Carsten Spitzer, Here Folkerts, Stephanie H. Witt, Franziska Degenhardt, Andreas J. Forstner, Marcella Rietschel, Markus M. Nöthen, Peter Falkai, Thomas G. Schulze, Urs Heilbronner

Subject: Medicine And Pharmacology, Psychiatry And Mental Health Keywords: Schizophrenia; bipolar; psychosis; depression; polygenic risk score; diagnosis; RDoC

Online: 27 October 2017 (11:58:11 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202003.0356.v1

Initial Review and Analysis of COVID-19 Host Genetics and Associated Phenotypes

Yosuke Tanigawa, Manuel Rivas

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: COVID-19; SARS-CoV-2; host genetics; genetics; polygenic risk score

Online: 24 March 2020 (08:36:20 CET)

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Preprint REVIEW | doi:10.20944/preprints202012.0584.v1

Genetic and Environmental Factors Influence Pleomorphy of lRRK2 Parkinsonism

Vinita Ganesh Chittoor, Jeremy Nichols, Birgitt Schüle

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: Parkinson’s disease; parkinsonism; LRRK2; neuropathology; modifier; genetics; GWAS; environmental risk factors; polygenic risk score

Online: 23 December 2020 (10:49:22 CET)

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Preprint ARTICLE | doi:10.20944/preprints202007.0106.v1

Sociodemographic and Genetic Influences on Dietary Patterns and Their Influence on Health Outcomes in the Atlanta Center for Health Discovery and Well Being Cohort

Jingheng Chen, Xueying Huang, Thomas R. Ziegler, Dean P. Jones, Michelle Lampl, Arshed A. Quyyumi, Jane Clark, Gregory S. Martin, Kenneth L. Brigham, Greg Gibson

Subject: Biology And Life Sciences, Food Science And Technology Keywords: polygenic risk; wellness; food frequency; principal component analysis; healthy eating index; obesity; food desert

Online: 7 July 2020 (02:36:11 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202306.0651.v1

Genetic Architecture of Vitamin D Deficiency Among an Elderly Lebanese Middle Eastern Population: An Exome-wide Association Study

Nagham Nafiz Hindi, Marlene Chakhtoura, Yaser Al-Sarraj, Dania Saleh Bacha, Omar Albagha, Ghada El-Hajj Fuleihan, Georges Nemer

Subject: Medicine And Pharmacology, Endocrinology And Metabolism Keywords: Exome-wide association stud; Vitamin D deficiency; genetic determinants; polygenic risk score; Middle Eastern population.

Online: 8 June 2023 (14:18:18 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202312.1787.v1

Causal Relationship Investigation between Iron Status and Metabolic Disorders by Mendelian Randomization Studies Revealed Increased Risks of Hypertension and Hypertriglyceridemia but a Protective Role against Hyperglycemia among Taiwanese Han Chinese

Vanessa Joy Timoteo-Garcia, Kuang-Mao Chiang, Yen-Tsung Huang, Hsin-Chou Yang, Wen-Harn Pan

Subject: Biology And Life Sciences, Life Sciences Keywords: Hemoglobin-polygenic risk score; Iron status; Metabolic syndrome; Metabolic risk outcomes; Diabetes or hyperglycemia; Mendelian randomization; Taiwanese Han Chinese; European White

Online: 25 December 2023 (04:46:00 CET)

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A number of epidemiological studies have implicated elevated iron levels with higher risks of cardiometabolic diseases, including the metabolic syndrome (MetS). MetS is a pathologic clustering of metabolic derangements characterized by central obesity, insulin resistance, hypertension, and dyslipidemia, which can all lead to increased cardiovascular disease morbidity and mortality. However, it remains unclear whether a causal association exists between higher iron status and MetS and its associated risk components. Using the data from the Taiwan Biobank (TWB) (19,012 males; 42,340 females) and of the European Whites from the UK Biobank (UKB) (128,549 males; 142,817 females), we first constructed ethnic- and sex-specific hemoglobin-polygenic risk scores (Hb-PRS) as instrumental variable (IV) for iron status with the Hb-associated SNPs we previously identified from genome-wide association studies (GWAS). We then conducted Mendelian randomization (MR) analyses to elucidate the causal role of elevated iron (either Hb-PRS quintiles or continuous Hb-PRS) on various metabolic components. MR-Egger regressions determined the potential pleiotropic effects of the constructed Hb-PRSs, while the causal relationship of Hb-PRS with anemia served as a control in the analyses. The mean Hb concentration range corresponding to the Hb-PRS quintiles is relatively narrow in both UKB (14.91-15.21 g/dL for males and 13.39-13.71 g/dL for females) and TWB (14.79-15.28 g/dL for males and 12.78-13.21 g/dL for females). In these windows of Hb-PRSs, we found differential associations of Hb-PRS with diabetes (T2D) or hyperglycemia (HGY) as compared to other MetS components. The highest quintiles of Hb-PRSs were causally associated with greater risks of hypertension (HTN) and hypertriglyceridemia (DLP) (i.e., [Taiwanese HC males: Q5 vs. Q1 ORHTN = 1.10 (1.00–1.21), p = 0.0473, Q4 vs. Q1 ORDLP = 1.10 (1.00–1.22), p = 0.0485; European White males: ORHTN = 1.05 (1.01–1.09), p = 0.0194, ORDLP = 1.04 (1.00–1.08), p = 0.0468]). Interestingly, we obtained a consistent negative causal association between increasing Hb-PRS quintiles and T2D or HGY risk across all sex subgroups (i.e., [Taiwanese HC females: ORHGY = 0.89 (0.84–0.95), 0.88 (0.83–0.94), 0.87 (0.82–0.93), 0.86 (0.81–0.92) from Q2 to Q5; European White females: ORHGY = 0.92 (0.87–0.98), 0.91 (0.86–0.97), 0.93 (0.87–0.98), 0.87 (0.82–0.93) from Q2 to Q5; all p < 0.05]. The positive causal relationships between Hb-PRSs and diastolic blood pressure (DBP) and triglycerides (TG) but inverse causal association with glucose (GLU) and glycated hemoglobin (HbA1c) further corroborated such findings. There is, however, a lack of causal association with central obesity (CO), while a U-shaped type of causality was observed for gout (GT) or hyperuricemia (HUA). Sensitivity analyses, which excluded subjects based on self-reports of health conditions or medications and hospital episode statistics data, revealed similar results. Our MR studies confirm a modest causal relationship between propensity of elevated iron status and increased risk of HTN and DLP. We have further observed that modestly lower iron levels causally contribute to the development of T2D. Further validation and elucidation of the underlying biological mechanisms are highly warranted.

Working Paper REVIEW

A New Perspective of Genetic Associations to the Cause of Multiple Sclerosis: The Role of Genes Expressed on Chromosomes 2 and 5

Robin Terese Montesano

Subject: Medicine And Pharmacology, Psychiatry And Mental Health Keywords: multiple sclerosis; MS; cause; genes; polygenic; heredity; autoimmune; diet; depression; fatigue; suicide; seizures; bowel disorders; thyroid; mitochondria; chromosome 2; chromosome 5; glial cells; sunlight; vitamin D3; ultraviolet radiation; melanocyte stimulating hormone; melanocyte concentrating hormone; stress

Online: 22 July 2019 (04:37:27 CEST)

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The literature on the causation of multiple sclerosis (MS), both genetic and environmental, extends over hundreds of years, with no firm conclusions on the exact role of autoimmunity and lifestyle. The epidemiology of MS was the basis for this review, but with a new, extensive examination of genes pertaining to each disorder, and disease of first, and second, degree relatives of those with MS. The author’s motivation was to discover some relationship between MS, and notable familial conditions, as the heredity of MS is concluded to be 30%, and the disorders had a chronic and/or idiopathic nature. This investigation hoped to further understand the randomness of MS- who acquires it, and what symptoms develop- after the author’s decades of observing several incidences of multiple members developing MS in a single family. Online databases for the human genome were used to link genes to MS, and symptoms, including excessive depression, fatigue and suicide rates, in coordination with linking genes for specific familial conditions including seizures, stroke, mental illness, bowel disorders, and thyroid conditions. Interesting associations were found, notably a cluster of Th2 cytokines, known to cure the animal model of MS, important receptors for neurotransmitters and hormones, a gene specific to Epstein Barr Virus, and potential genes for mitochondrial dysfunction. The results surprised the author, showing polygenic regions of chromosome 2 and 5, especially a cluster at loci 5q31-q33, may be dysregulated. The conclusion agrees with past hypotheses MS results not from a single gene, but from various genes, including those expressed in glial cells. The individual theories to the causation of MS, starting with Charcot may be explained by multiple pathways converging into a single disease outcome. In coordination with a sunlight factor, chromosome 2 appears to mediate the immune system, and inflammation, through ultraviolet radiation producing vitamin D3 in the skin, but additionally through peptides formed in the melanocyte stimulating and concentrating hormone class. The impact of stress in MS could be primary, given the loci of several stress-related and stress-modulated genes on these chromosomes, and calls for more appreciation of, and greater care for, the MS patients’ state of mind.

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