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Genetic And Environmental Contributions To Wolbachia-Induced Cytoplasmic Incompatibility, Kelley Van Vaerenberghe 2023 University of Montana, Missoula

Genetic And Environmental Contributions To Wolbachia-Induced Cytoplasmic Incompatibility, Kelley Van Vaerenberghe

Graduate Student Theses, Dissertations, & Professional Papers

Maternally-transmitted Wolbachia infect the cells of most insect species, but their frequencies in host populations vary. While much of their success can be attributed to their ability to manipulate host reproduction, these manipulations are context-dependent, varying due to several biotic and abiotic factors. Wolbachia’s most common manipulation, cytoplasmic incompatibility (CI), is a conditional sterility phenotype where male-female host compatibility depends on their infection status. Specifically, CI occurs when infected males produce modified sperm that cause increased embryonic lethality unless the female carries a similar infection. Rescuing their eggs from CI increases the relative fitness of infected females, promoting Wolbachia spread …


Use Of Foreign Edna Tracers To Resolve Site- And Time-Specific Edna Distributions In Natural Streams, Braden A. Herman 2023 Humboldt State University

Use Of Foreign Edna Tracers To Resolve Site- And Time-Specific Edna Distributions In Natural Streams, Braden A. Herman

Cal Poly Humboldt theses and projects

Substantial uncertainty in how to interpret eDNA observations motivates a need for a technique to effectively and efficiently measure of system- and time-specific eDNA distributions. Using a technique to robustly calibrate eDNA dynamics in a given system would improve established eDNA methods such as presence and absence and has the potential to refine estimates of organism abundance using eDNA concentration that are less well understood. Particles of eDNA are present in a wide variety of size and type resulting in varying transport dynamics, persistence, decay, among others. This variation likely makes eDNA transport more complex than that of conservative tracers …


[Research Note] The Random Somatic Mutation Is Not Quite Random, Florentin Smarandache 2023 University of New Mexico

[Research Note] The Random Somatic Mutation Is Not Quite Random, Florentin Smarandache

Branch Mathematics and Statistics Faculty and Staff Publications

This research note challenges the idea that Random Somatic Mutations are entirely random, highlighting their non-equiprobable nature and their influence on evolution, involution, or indeterminacy. It recalls the Neutrosophic Theory of Evolution, extending Darwin’s theory, and emphasizes the importance of distinguishing between different senses of “random mutation” in evolutionary theory.


ผลของสารสกัดสมุนไพรที่มีเห็ดกระถินพิมาน Phellinus Linteus เป็นองค์ประกอบร่วมกับซิสพลาตินต่อการมีชีวิตของเซลล์ วัฏจักรของเซลล์ อะพอพโทซิส และการแสดงออกของยีนในเซลล์มะเร็งปากมดลูก, พิลาสลักษณ์ ปานสุข 2023 คณะวิทยาศาสตร์

ผลของสารสกัดสมุนไพรที่มีเห็ดกระถินพิมาน Phellinus Linteus เป็นองค์ประกอบร่วมกับซิสพลาตินต่อการมีชีวิตของเซลล์ วัฏจักรของเซลล์ อะพอพโทซิส และการแสดงออกของยีนในเซลล์มะเร็งปากมดลูก, พิลาสลักษณ์ ปานสุข

Chulalongkorn University Theses and Dissertations (Chula ETD)

มะเร็งปากมดลูกสามารถรักษาได้ด้วยเคมีบำบัดโดยใช้สารซิสพลาติน ซึ่งให้ผลข้างเคียงหลายประการ ในการรักษาทางการแพทย์แผนโบราณมีการใช้เห็ดกระถินพิมาน (Phellinus linteus) รักษาโรคมะเร็ง ซึ่งเห็ดชนิดนี้มีประสิทธิภาพในการยับยั้งเซลล์มะเร็งและส่งเสริมการตอบสนองของระบบภูมิคุ้มกัน การศึกษานี้มีวัตถุประสงค์เพื่อศึกษาผลของสารสกัดสมุนไพรที่มีเห็ดกระถินพิมานเป็นองค์ประกอบร่วมกับซิสพลาตินต่อการมีชีวิตของเซลล์วัฏจักรของเซลล์ และอะพอพโทซิสและการแสดงออกของยีน MKI67 และ CDK7 ของเซลล์มะเร็งปากมดลูก C33a และ SiHa เพื่อลดผลข้างเคียงของเคมีบำบัดของสารซิสพลาติน การทดสอบการรอดชีวิตของเซลล์ในเซลล์มะเร็งปากมดลูกด้วยวิธี MTT assay ทำให้ได้ค่าความเข้มข้นของสารสกัดสมุนไพรและซิสพลาตินที่ความเข้มข้น IC50 จากนั้นนำค่าความเข้มข้น IC50 ของสารสกัดสมุนไพรในแต่ละเซลล์ที่ได้มาใช้ร่วมกับซิสพลาติน โดยทำการลดค่าความเข้มข้นให้ต่ำลงจากค่าความเข้มข้น IC50 ผลพบว่าการใช้สารสกัดสมุนไพรและสารซิสพลาตินร่วมกันในเซลล์ C33a และ SiHa ช่วยลดปริมาณการใช้สารซิสพลาตินลง 6 – 12 เท่า และ 8 – 26 เท่า จากความเข้มข้นที่ IC50 ของสารซิสพลาติน ตามลำดับ สำหรับการทดสอบพอพโทซิสของเซลล์มะเร็ง ผลพบว่าสารสกัดสมุนไพร สารซิส-พลาติน และสารสกัดสมุนไพรร่วมกับซิสพลาตินมีการเหนี่ยวนำให้เซลล์ C33a และ SiHa เกิดการตายผ่านกลไกอะพอพโทซิส จึงทำให้เซลล์มีการสะสมอยู่ในระยะ early apoptosis และ late apoptosis ในการศึกษาวัฏจักรของเซลล์มะเร็งพบว่าสารสกัดสมุนไพรร่วมกับซิสพลาตินที่มีการเหนี่ยวนำให้เกิดการหยุดของวัฏจักรของเซลล์ที่ระยะ G2 ของเซลล์ C33a และ SiHa แต่ผลการแสดงออกของยีน MKI67 และ CDK7 ไม่ได้เป็นไปในทางเดียวกันกับผลการศึกษาข้างต้น จึงคาดว่าอาจมีการควบคุมผ่านเส้นทางอื่น อย่างไรก็ตามยังคงต้องทำการศึกษาเพิ่มเติมเพื่อค้นหากลไกการออกฤทธิ์ของสารสกัดสมุนไพรเมื่อใช้ร่วมกับซิสพลาตินต่อไป


Taxonomic Classification Of Viral And Bacterial Dna Following 2021 Avian Mass Mortality Event, Tessa Baillargeon 2023 University of New Hampshire, Durham

Taxonomic Classification Of Viral And Bacterial Dna Following 2021 Avian Mass Mortality Event, Tessa Baillargeon

Honors Theses and Capstones

From May through July 2021, an unusual mortality event occurred along the eastern coast and Midwest of the United States. Thousands of birds, mostly from the order Passeriformes, were part of the die-off including blue jays (Cyanocitta cristata), common grackles (Quiscalus quiscula), European starlings (Sturnus vulgaris), American robins (Turdus migratorius). Clinical signs included crusted eyes, swollen conjunctiva, otitis, seizures, and ataxia.

The New Hampshire Veterinary Diagnostic Laboratory (NHVDL) received over 100 affected birds from various collaborators throughout the United States including Washington DC, NJ, CT, MD, and OH. Given the timing and geologic …


Investigation Of The Function Of Protein Acyl Transferases Using Crispr-Cas9 To Create Null Mutants, Claire E. Christopher 2023 University of New Hampshire, Durham

Investigation Of The Function Of Protein Acyl Transferases Using Crispr-Cas9 To Create Null Mutants, Claire E. Christopher

Honors Theses and Capstones

24 Protein Acyl Transferases (PATs) have been identified in the model organism Arabidopsis thaliana. Despite knowing the enzymatic function of these genes (palmitoylation), the specific subcellular pathways, protein targets, and cellular activities of these proteins remain unknown. To investigate the pathways that PAT genes are involved in, deletion mutations were created in several genes and the phenotype of the organisms carrying homozygous mutations was observed. To introduce mutations, the CRISPR/Cas9 system was inserted into the plant’s genome using Agrobacterium tumefaciens to cause deletions in PAT genes of interest. To date, no CRISPR-induced pat mutants have a noticeable phenotype. These …


Investigating The Role Of Bromodomain Proteins On Histone Post-Translational Modifications In Toxoplasma Gondii, Joshua Steven Berthiaume 2023 University of New Hampshire

Investigating The Role Of Bromodomain Proteins On Histone Post-Translational Modifications In Toxoplasma Gondii, Joshua Steven Berthiaume

Honors Theses and Capstones

Toxoplasma gondii is a prevalent pathogenic parasite that infects approximately 25 percent of the US population. For the parasite to successfully establish and maintain infection in its host, properly controlled regulation of gene expression is critical. One way Toxoplasma regulates gene expression is through modification of histone proteins that bind to DNA and can control gene accessibility. Acetylation is a modification that is added to histones that changes chromatin structure to enhance gene activation. Histone acetylation can also regulate gene expression by recruitment of important regulators such as bromodomain proteins (BDP). A previous study showed that loss of the bromodomain …


The Assembled Genome Of The Stroke-Prone Spontaneously Hypertensive Rat, Theodore S Kalbfleisch, Nahla A Hussien AbouEl Ela, Kai Li, Wesley A Brashear, Kelli J Kochan, Yaming Zhu, Eric J Kline, Elizabeth A Hudson, Terence D Murphy, Françoise Thibaud-Nissen, Melissa L Smith, Peter A Doris 2023 The Texas Medical Center Library

The Assembled Genome Of The Stroke-Prone Spontaneously Hypertensive Rat, Theodore S Kalbfleisch, Nahla A Hussien Abouel Ela, Kai Li, Wesley A Brashear, Kelli J Kochan, Yaming Zhu, Eric J Kline, Elizabeth A Hudson, Terence D Murphy, Françoise Thibaud-Nissen, Melissa L Smith, Peter A Doris

Faculty, Staff and Student Publications

BACKGROUND: We report the creation and evaluation of a de novo assembly of the genome of the spontaneously hypertensive rat, the most widely used model of human cardiovascular disease.

METHODS: The genome is assembled from long read sequencing (PacBio HiFi and continuous long read data [CLR]) and scaffolded with long-range structural information obtained from Bionano optical maps and proximity ligation sequencing proximity analysis of the genome. The genome assembly was polished with Illumina short reads. Completeness of the assembly was investigated using Benchmarking Universal Single Copy Orthologs analysis. The genome assembly was also evaluated with the rat reference gene set, …


Artificial Intelligence-Driven Meta-Analysis Of Brain Gene Expression Identifies Novel Gene Candidates And A Role For Mitochondria In Alzheimer’S Disease, Caitlin A Finney, Fabien Delerue, Wendy A Gold, David A Brown, Artur Shvetcov 2023 The Texas Medical Center Library

Artificial Intelligence-Driven Meta-Analysis Of Brain Gene Expression Identifies Novel Gene Candidates And A Role For Mitochondria In Alzheimer’S Disease, Caitlin A Finney, Fabien Delerue, Wendy A Gold, David A Brown, Artur Shvetcov

Faculty, Staff and Student Publications

Alzheimer's disease (AD) is the most common form of dementia. There is no treatment and AD models have focused on a small subset of genes identified in familial AD. Microarray studies have identified thousands of dysregulated genes in the brains of patients with AD yet identifying the best gene candidates to both model and treat AD remains a challenge. We performed a meta-analysis of microarray data from the frontal cortex (n = 697) and cerebellum (n = 230) of AD patients and healthy controls. A two-stage artificial intelligence approach, with both unsupervised and supervised machine learning, combined with a functional …


Functional Residues Of Cjpata, Robert Lamont 2023 Wilfrid Laurier University

Functional Residues Of Cjpata, Robert Lamont

Theses and Dissertations (Comprehensive)

Antibiotic resistance in pathogenic bacteria continues to challenge clinicians and threaten the lives of infected individuals. For this reason, new classes of antibiotics or new targets for antibiotic therapy are needed to circumvent this global health crisis. In Gram-negative bacteria, the enzymes peptidoglycan O-acetyltransferase A and B (PatA and PatB), are responsible for adding acetyl groups to the C-6 hydroxyl group of N-acetyl muramic acid (MurNAc) in peptidoglycan (PG). These acetyl groups are responsible for inhibiting the activity of lysozyme from host organisms that hydrolyze the β1-4 glycosidic linkage between MurNAc and N-acetylglucosamine (GlcNAc). The acetyl groups …


Admixpipe V3: Facilitating Population Structure Delimitation From Snp Data, Steven M. Mussmann, Marlis R. Douglas, Tyler Chafin, Michael E. Douglas 2023 University of Arkansas, Fayetteville

Admixpipe V3: Facilitating Population Structure Delimitation From Snp Data, Steven M. Mussmann, Marlis R. Douglas, Tyler Chafin, Michael E. Douglas

Biological Sciences Faculty Publications and Presentations

Quantifying genetic clusters (=populations) from genotypic data is a fundamental, but non-trivial task for population geneticists that is compounded by: hierarchical population structure, diverse analytical methods, and complex software dependencies. AdmixPipe v3 ameliorates many of these issues in a single bioinformatic pipeline that facilitates all facets of population structure analysis by integrating outputs generated by several popular packages (i.e. CLUMPAK, EvalAdmix). The pipeline interfaces disparate software packages to parse Admixture outputs and conduct EvalAdmix analyses in the context of multimodal population structure results identified by CLUMPAK. We further streamline these tasks by packaging AdmixPipe v3 within a Docker container to …


Executive Functioning Among The Karyotypes In Turner Syndrome And Implications For Interventions, Sara Scull 2023 Antioch University of New England

Executive Functioning Among The Karyotypes In Turner Syndrome And Implications For Interventions, Sara Scull

Antioch University Dissertations & Theses

Turner syndrome (TS) is a genetic disorder seen in phenotypically female (pf) individuals who have either a complete or partial absence of the second sex (X) chromosome. TS includes different karyotypes, and it presents with a variety of phenotypic and genotypic features. In general, the neuropsychological profiles for individuals diagnosed suggest that TS can contribute to challenges in various aspects of daily life, including social and emotional functioning. With regard to academic performances, individuals with TS often present with relative strengths in a range of verbal abilities and relative weakness in visual-spatial/perceptual abilities, nonverbal memory, motor function, processing speed, executive …


Isolation And Characterization Of Cellulose Degrading Microorganisms Generating Electricity Using Microbial Fuel Cell, Lama Fayad, Rania Amer, Ahmad Abd El Nabi, Ali Hammoud, Hoda Yusef 2022 Department of Biology, Faculty of Science, Beirut Arab University

Isolation And Characterization Of Cellulose Degrading Microorganisms Generating Electricity Using Microbial Fuel Cell, Lama Fayad, Rania Amer, Ahmad Abd El Nabi, Ali Hammoud, Hoda Yusef

BAU Journal - Science and Technology

Global warming and the accumulation of organic waste constitute a serious environmental problem. Therefore, microbial fuel cells (MFC) are an eco-friendly device that have significant capability for the production of electricity using biodegradable waste as fuel. Microorganisms used as catalysts in the anode compartment, execute a principal function in operating MFCs. The present study was conducted to isolate and to screen potential bioelectricity generating microorganisms from dumpsite soil samples and also to construct a domestic dual-chambered microbial fuel cell (MFC). Streptomyces fimicarius was found to be the best isolate for the degradation of cellulose and the production of bioelectricity. The …


Tree Biomass – A Fragile Carbon Storage In Old-Growth Birch And Aspen Stands In Hemiboreal Latvia, Laura Ķēniņa, Didzis Elferts, Ieva Jaunslaviete, Endijs Bāders, Guntars Šņepsts, Āris Jansons 2022 Latvian State Forest Research Institute

Tree Biomass – A Fragile Carbon Storage In Old-Growth Birch And Aspen Stands In Hemiboreal Latvia, Laura Ķēniņa, Didzis Elferts, Ieva Jaunslaviete, Endijs Bāders, Guntars Šņepsts, Āris Jansons

Aspen Bibliography

Birch (Betula pendula Roth, Betula pubescens Ehrh.) and European aspen (Populus tremula L.) stands dominate the deciduous forests of Northern Europe. Due to increasing forest protections, more deciduous stands will reach the old-growth stage. Thus, data on the carbon storage potential in such areas are essential. We aimed to establish a benchmark for carbon stocks of the main carbon pools in old-growth deciduous hemiboreal stands. Carbon pools were calculated from measurements in forty old-growth (104–148 years-old) deciduous stands in forests on fertile mineral soil. The carbon stock in these stands is distributed across tree biomass (~ 60%), mineral soil (~ …


Effects Of Riverine Barriers On Avian Evolution In The Amazon Basin, Andre Eugene Moncrieff 2022 Louisiana State University and Agricultural and Mechanical College

Effects Of Riverine Barriers On Avian Evolution In The Amazon Basin, Andre Eugene Moncrieff

LSU Doctoral Dissertations

The high biodiversity found in the Amazon Basin has long captivated the attention of naturalists and evolutionary biologists seeking to explain its origins. Early observations by Alfred Wallace highlighted the role of rivers in delimiting the geographic ranges of many species; furthermore, where rivers narrow towards their headwaters, he noted that some species cross rivers freely. A major goal of this dissertation is to investigate how these and other observations about riverine barriers might inform our understanding of how speciation unfolds in Amazonia. My approach involved generating genomic data with dense geographic sampling for manakins in the genus Lepidothrix, …


A Monovalent Mt10-Cvb3 Vaccine Prevents Cvb4-Accelerated Type 1 Diabetes In Nod Mice, Mahima T. Rasquinha, Ninaad Lasrado, Meghna Sur, Kiruthiga Mone, Haowen Qiu, Jean-Jack Riethoven, Raymond A. Sobel, Jay Reddy 2022 University of Nebraska - Lincoln

A Monovalent Mt10-Cvb3 Vaccine Prevents Cvb4-Accelerated Type 1 Diabetes In Nod Mice, Mahima T. Rasquinha, Ninaad Lasrado, Meghna Sur, Kiruthiga Mone, Haowen Qiu, Jean-Jack Riethoven, Raymond A. Sobel, Jay Reddy

Nebraska Center for Virology: Faculty Publications

Enteroviruses, which include Coxsackieviruses, are a common cause of virus infections in humans, and multiple serotypes of the group B Coxsackievirus (CVB) can induce similar diseases. No vaccines are currently available to prevent CVB infections because developing serotype-specific vaccines is not practical. Thus, developing a vaccine that induces protective immune responses for multiple serotypes is desired. In that direction, we created a live-attenuated CVB3 vaccine virus, designated mutant (Mt)10, that offers protection against myocarditis and pancreatitis induced by CVB3 and CVB4 in disease-susceptible A/J mice. Here, we report that the Mt10 vaccine protected against CVB4-triggered type 1 diabetes (T1D) in …


Genetic Population Dynamics Of The Critically Endangered Scalloped Hammerhead Shark (Sphyrna Lewini) In The Eastern Tropical Pacific, Sydney P. Harned, Andrea Bernard, Pelayo Salinas-de-Leon, Marissa Mehlrose, Jenifer Suarez, Yolani Robles, Sandra Bessudo Lion, Felipe Ladino, Andrés López Garo, Ilena Zanella, Kevin A. Feldheim, Mahmood Shivji 2022 Nova Southeastern University

Genetic Population Dynamics Of The Critically Endangered Scalloped Hammerhead Shark (Sphyrna Lewini) In The Eastern Tropical Pacific, Sydney P. Harned, Andrea Bernard, Pelayo Salinas-De-Leon, Marissa Mehlrose, Jenifer Suarez, Yolani Robles, Sandra Bessudo Lion, Felipe Ladino, Andrés López Garo, Ilena Zanella, Kevin A. Feldheim, Mahmood Shivji

Biology Faculty Articles

The scalloped hammerhead shark, Sphyrna lewini, is a Critically Endangered, migratory species known for its tendency to form iconic and visually spectacular large aggregations. Herein, we investigated the population genetic dynamics of the scalloped hammerhead across much of its distribution in the Eastern Tropical Pacific (ETP), ranging from Costa Rica to Ecuador, focusing on young-of-year animals from putative coastal nursery areas and adult females from seasonal aggregations that form in the northern Galápagos Islands. Nuclear microsatellites and partial mitochondrial control region sequences showed little evidence of population structure suggesting that scalloped hammerheads in this ETP region comprise a single …


Aspen Leaves As A "Chemical Landscape" For Fungal Endophyte Diversity - Can Nitrogen And Herbivory Shape The Community Composition In Controlled Conditions?, Johanna Witzell, Vicki Huizu Guo Decker, Marta Agostinelli, Carmen Romeralo Tapia, Michelle Cleary, Benedicte Riber Albrectsen 2022 Umeå University

Aspen Leaves As A "Chemical Landscape" For Fungal Endophyte Diversity - Can Nitrogen And Herbivory Shape The Community Composition In Controlled Conditions?, Johanna Witzell, Vicki Huizu Guo Decker, Marta Agostinelli, Carmen Romeralo Tapia, Michelle Cleary, Benedicte Riber Albrectsen

Aspen Bibliography

The endophytic microbiome may influence the ecological performance of plants, including forest trees. Various abiotic and biotic factors may shape the endophyte communities directly but also indirectly, by modifying the quality of host plants as a substrate. We hypothesized that potentially antifungal or fungistatic condensed tannins (CTs) would determine the quality of aspen (Populus tremula) leaves as a substrate for endophytic fungi. By subjecting the plants to nitrogen fertilization (N) or herbivory (H; leaf beetles) we aimed to change the internal “chemical landscape”, especially the CT levels, in aspen leaves. We expected that this would lead to changes in the …


Natural Selection Of Immune And Metabolic Genes Associated With Health In Two Lowland Bolivian Populations, Amanda J. Lea, Angela Garcia, Jesusa Arevalo, Julien F. Ayroles, Kenneth Buetow, Steve W. Cole, Daniel Eid Rodriguez, Maguin Gutierrez, Heather M. Highland, Paul L. Hooper, Anne Justice, Thomas Kraft, Kari E. North, Jonathan Stieglitz, Hillard Kaplan, Benjamin C. Trumble, Michael Gurven 2022 Vanderbilt University

Natural Selection Of Immune And Metabolic Genes Associated With Health In Two Lowland Bolivian Populations, Amanda J. Lea, Angela Garcia, Jesusa Arevalo, Julien F. Ayroles, Kenneth Buetow, Steve W. Cole, Daniel Eid Rodriguez, Maguin Gutierrez, Heather M. Highland, Paul L. Hooper, Anne Justice, Thomas Kraft, Kari E. North, Jonathan Stieglitz, Hillard Kaplan, Benjamin C. Trumble, Michael Gurven

ESI Publications

A growing body of work has addressed human adaptations to diverse environments using genomic data, but few studies have connected putatively selected alleles to phenotypes, much less among underrepresented populations such as Amerindians. Studies of natural selection and genotype–phenotype relationships in underrepresented populations hold potential to uncover previously undescribed loci underlying evolutionarily and biomedically relevant traits. Here, we worked with the Tsimane and the Moseten, two Amerindian populations inhabiting the Bolivian lowlands. We focused most intensively on the Tsimane, because long-term anthropological work with this group has shown that they have a high burden of both macro and microparasites, as …


Exome Array Analysis Of 9721 Ischemic Stroke Cases From The Sign Consortium, Wei Zhao, O Colin Stine, Kathleen A Ryan, Megan Lynch, Jennifer A Smith, Jessica D Faul, Yao Hu, Jeffrey W Haessler, Myriam Fornage, Charles Kooperberg, On Behalf Of The Trans-Omics For Precision Medicine TOPMed Stroke Working Group, James A Perry, Charles C Hong, John W Cole, Elizabeth Pugh, Kimberly Doheny, Sharon L R Kardia, David R Weir, Braxton D Mitchell, SiGN Consortium 2022 The Texas Medical Center Library

Exome Array Analysis Of 9721 Ischemic Stroke Cases From The Sign Consortium, Wei Zhao, O Colin Stine, Kathleen A Ryan, Megan Lynch, Jennifer A Smith, Jessica D Faul, Yao Hu, Jeffrey W Haessler, Myriam Fornage, Charles Kooperberg, On Behalf Of The Trans-Omics For Precision Medicine Topmed Stroke Working Group, James A Perry, Charles C Hong, John W Cole, Elizabeth Pugh, Kimberly Doheny, Sharon L R Kardia, David R Weir, Braxton D Mitchell, Sign Consortium

Faculty, Staff and Student Publications

Recent genome wide association studies have identified 89 common genetic variants robustly associated with ischemic stroke and primarily located in non-coding regions. To evaluate the contribution of coding variants, which are mostly rare, we performed an exome array analysis on 106,101 SNPs for 9721 ischemic stroke cases from the SiGN Consortium, and 12,345 subjects with no history of stroke from the Health Retirement Study and SiGN consortium. We identified 15 coding variants significantly associated with all ischemic stroke at array-wide threshold (i.e., p < 4.7 × 10-7), including two common SNPs in ABO that have previously been associated with stroke. Twelve of the remaining 13 variants were extremely rare …


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