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Helena kuivaniemi

Anurag Verma, Shefali S Verma, Sarah A Pendergrass, Dana C Crawford, David R Crosslin, Helena Kuivaniemi, William S Bush, Yuki Bradford, Iftikhar Kullo, Suzette J Bielinski, Rongling Li, Joshua C Denny, Peggy Peissig, Scott Hebbring, Mariza De Andrade, Marylyn D Ritchie, Gerard Tromp
BACKGROUND: We explored premature stop-gain variants to test the hypothesis that variants, which are likely to have a consequence on protein structure and function, will reveal important insights with respect to the phenotypes associated with them. We performed a phenome-wide association study (PheWAS) exploring the association between a selected list of functional stop-gain genetic variants (variation resulting in truncated proteins or in nonsense-mediated decay) and an extensive group of diagnoses to identify novel associations and uncover potential pleiotropy...
2016: BMC Medical Genomics
Anurag Verma, Anna O Basile, Yuki Bradford, Helena Kuivaniemi, Gerard Tromp, David Carey, Glenn S Gerhard, James E Crowe, Marylyn D Ritchie, Sarah A Pendergrass
We performed a Phenome-Wide Association Study (PheWAS) to identify interrelationships between the immune system genetic architecture and a wide array of phenotypes from two de-identified electronic health record (EHR) biorepositories. We selected variants within genes encoding critical factors in the immune system and variants with known associations with autoimmunity. To define case/control status for EHR diagnoses, we used International Classification of Diseases, Ninth Revision (ICD-9) diagnosis codes from 3,024 Geisinger Clinic MyCode® subjects (470 diagnoses) and 2,899 Vanderbilt University Medical Center BioVU biorepository subjects (380 diagnoses)...
2016: PloS One
Femke N G van 't Hof, Ynte M Ruigrok, Cue Hyunkyu Lee, Stephan Ripke, Graig Anderson, Mariza de Andrade, Annette F Baas, Jan D Blankensteijn, Erwin P Böttinger, Matthew J Bown, Joseph Broderick, Philippe Bijlenga, David S Carrell, Dana C Crawford, David R Crosslin, Christian Ebeling, Johan G Eriksson, Myriam Fornage, Tatiana Foroud, Mikael von Und Zu Fraunberg, Christoph M Friedrich, Emília I Gaál, Omri Gottesman, Dong-Chuan Guo, Seamus C Harrison, Juha Hernesniemi, Albert Hofman, Ituro Inoue, Juha E Jääskeläinen, Gregory T Jones, Lambertus A L M Kiemeney, Riku Kivisaari, Nerissa Ko, Seppo Koskinen, Michiaki Kubo, Iftikhar J Kullo, Helena Kuivaniemi, Mitja I Kurki, Aki Laakso, Dongbing Lai, Suzanne M Leal, Hanna Lehto, Scott A LeMaire, Siew-Kee Low, Jennifer Malinowski, Catherine A McCarty, Dianna M Milewicz, Thomas H Mosley, Yusuke Nakamura, Hirofumi Nakaoka, Mika Niemelä, Jennifer Pacheco, Peggy L Peissig, Joanna Pera, Laura Rasmussen-Torvik, Marylyn D Ritchie, Fernando Rivadeneira, Andre M van Rij, Regie Lyn P Santos-Cortez, Athanasios Saratzis, Agnieszka Slowik, Atsushi Takahashi, Gerard Tromp, André G Uitterlinden, Shefali S Verma, Sita H Vermeulen, Gao T Wang, Buhm Han, Gabriël J E Rinkel, Paul I W de Bakker
BACKGROUND: Intracranial aneurysms (IAs), abdominal aortic aneurysms (AAAs), and thoracic aortic aneurysms (TAAs) all have a familial predisposition. Given that aneurysm types are known to co-occur, we hypothesized that there may be shared genetic risk factors for IAs, AAAs, and TAAs. METHODS AND RESULTS: We performed a mega-analysis of 1000 Genomes Project-imputed genome-wide association study (GWAS) data of 4 previously published aneurysm cohorts: 2 IA cohorts (in total 1516 cases, 4305 controls), 1 AAA cohort (818 cases, 3004 controls), and 1 TAA cohort (760 cases, 2212 controls), and observed associations of 4 known IA, AAA, and/or TAA risk loci (9p21, 18q11, 15q21, and 2q33) with consistent effect directions in all 4 cohorts...
2016: Journal of the American Heart Association
Chao Zhang, Dustin van der Voort, Hong Shi, Rongli Zhang, Yulan Qing, Shuichi Hiraoka, Minoru Takemoto, Koutaro Yokote, Joseph V Moxon, Paul Norman, Laure Rittié, Helena Kuivaniemi, G Brandon Atkins, Stanton L Gerson, Guo-Ping Shi, Jonathan Golledge, Nianguo Dong, Bernard Perbal, Domenick A Prosdocimo, Zhiyong Lin
No abstract text is available yet for this article.
May 2, 2016: Journal of Clinical Investigation
Kenneth M Borthwick, Diane T Smelser, Jonathan A Bock, James R Elmore, Evan J Ryer, Zi Ye, Jennifer A Pacheco, David S Carrell, Michael Michalkiewicz, William K Thompson, Jyotishman Pathak, Suzette J Bielinski, Joshua C Denny, James G Linneman, Peggy L Peissig, Abel N Kho, Omri Gottesman, Harpreet Parmar, Iftikhar J Kullo, Catherine A McCarty, Erwin P Böttinger, Eric B Larson, Gail P Jarvik, John B Harley, Tanvir Bajwa, David P Franklin, David J Carey, Helena Kuivaniemi, Gerard Tromp
BACKGROUND AND OBJECTIVE: We designed an algorithm to identify abdominal aortic aneurysm cases and controls from electronic health records to be shared and executed within the "electronic Medical Records and Genomics" (eMERGE) Network. MATERIALS AND METHODS: Structured Query Language, was used to script the algorithm utilizing "Current Procedural Terminology" and "International Classification of Diseases" codes, with demographic and encounter data to classify individuals as case, control, or excluded...
December 2015: International Journal of Biomedical Data Mining
Chao Zhang, Dustin van der Voort, Hong Shi, Rongli Zhang, Yulan Qing, Shuichi Hiraoka, Minoru Takemoto, Koutaro Yokote, Joseph V Moxon, Paul Norman, Laure Rittié, Helena Kuivaniemi, G Brandon Atkins, Stanton L Gerson, Guo-Ping Shi, Jonathan Golledge, Nianguo Dong, Bernard Perbal, Domenick A Prosdocimo, Zhiyong Lin
Abdominal aortic aneurysm (AAA) is a major cause of morbidity and mortality; however, the mechanisms that are involved in disease initiation and progression are incompletely understood. Extracellular matrix proteins play an integral role in modulating vascular homeostasis in health and disease. Here, we determined that the expression of the matricellular protein CCN3 is strongly reduced in rodent AAA models, including angiotensin II-induced AAA and elastase perfusion-stimulated AAA. CCN3 levels were also reduced in human AAA biopsies compared with those in controls...
April 1, 2016: Journal of Clinical Investigation
Rachel C Rolph, Matthew Waltham, Alberto Smith, Helena Kuivaniemi
Recent technological advances have allowed researchers to interrogate the genetic basis of abdominal aortic aneurysms in great detail. The results from these studies are expected to transform our understanding of this complex disease with both multiple genetic and environmental risk factors. Clinicians need to keep abreast of these genetic findings and understand the implications for their practice. Patients will become increasingly informed on genetic risk, and a new era of individualized risk assessment for AAA is just beginning...
February 2015: Aorta (Stamford, Conn.)
Helena Kuivaniemi, Evan J Ryer, James R Elmore, Gerard Tromp
No abstract text is available yet for this article.
December 2015: Expert Review of Cardiovascular Therapy
Carlos J Gallego, Amber Burt, Agnes S Sundaresan, Zi Ye, Christopher Shaw, David R Crosslin, Paul K Crane, S Malia Fullerton, Kris Hansen, David Carrell, Helena Kuivaniemi, Kimberly Derr, Mariza de Andrade, Catherine A McCarty, Terrie E Kitchner, Brittany K Ragon, Sarah C Stallings, Gabriella Papa, Joseph Bochenek, Maureen E Smith, Sharon A Aufox, Jennifer A Pacheco, Vaibhav Patel, Elisha M Friesema, Angelika Ludtke Erwin, Omri Gottesman, Glenn S Gerhard, Marylyn Ritchie, Arno G Motulsky, Iftikhar J Kullo, Eric B Larson, Gerard Tromp, Murray H Brilliant, Erwin Bottinger, Joshua C Denny, Dan M Roden, Marc S Williams, Gail P Jarvik
Hereditary hemochromatosis (HH) is a common autosomal-recessive disorder associated with pathogenic HFE variants, most commonly those resulting in p.Cys282Tyr and p.His63Asp. Recommendations on returning incidental findings of HFE variants in individuals undergoing genome-scale sequencing should be informed by penetrance estimates of HH in unselected samples. We used the eMERGE Network, a multicenter cohort with genotype data linked to electronic medical records, to estimate the diagnostic rate and clinical penetrance of HH in 98 individuals homozygous for the variant coding for HFE p...
October 1, 2015: American Journal of Human Genetics
Helena Kuivaniemi, Evan J Ryer, James R Elmore, Gerard Tromp
An aortic aneurysm is a dilatation in which the aortic diameter is ≥3.0 cm. If left untreated, the aortic wall continues to weaken and becomes unable to withstand the forces of the luminal blood pressure resulting in progressive dilatation and rupture, a catastrophic event associated with a mortality of 50-80%. Smoking and positive family history are important risk factors for the development of abdominal aortic aneurysms (AAA). Several genetic risk factors have also been identified. On the histological level, visible hallmarks of AAA pathogenesis include inflammation, smooth muscle cell apoptosis, extracellular matrix degradation and oxidative stress...
2015: Expert Review of Cardiovascular Therapy
Evan J Ryer, Robert P Garvin, Biju Thomas, Helena Kuivaniemi, David P Franklin, James R Elmore
OBJECTIVE: A recent investigation has documented an increased risk of aneurysm-related complications after endovascular aneurysm repair (EVAR) of familial abdominal aortic aneurysms (fAAAs). We hypothesized that fAAA patients are not at increased risk for complications following open AAA repair or EVAR when compared with sporadic abdominal aortic aneurysm (spAAA) patients. To this end, we performed a single institution retrospective review. METHODS: Epidemiologic data were collected through the electronic medical record...
November 2015: Journal of Vascular Surgery
Evan J Ryer, Kaitryn E Ronning, Robert Erdman, Charles M Schworer, James R Elmore, Thomas C Peeler, Christopher D Nevius, John H Lillvis, Robert P Garvin, David P Franklin, Helena Kuivaniemi, Gerard Tromp
Abdominal aortic aneurysm (AAA) is a complex disorder that has a significant impact on the aging population. While both genetic and environmental risk factors have been implicated in AAA formation, the precise genetic markers involved and the factors influencing their expression remain an area of ongoing investigation. DNA methylation has been previously used to study gene silencing in other inflammatory disorders and since AAA has an extensive inflammatory component, we sought to examine the genome-wide DNA methylation profiles in mononuclear blood cells of AAA cases and matched non-AAA controls...
2015: International Journal of Molecular Sciences
Matthew C Pahl, Robert Erdman, Helena Kuivaniemi, John H Lillvis, James R Elmore, Gerard Tromp
We investigated transcriptional control of gene expression in human abdominal aortic aneurysm (AAA). We previously identified 3274 differentially expressed genes in human AAA tissue compared to non-aneurysmal controls. Four expressed transcription factors (ELF1, ETS2, STAT5 and RUNX1) were selected for genome-wide chromatin immunoprecipitation. Transcription factor binding was enriched in 4760 distinct genes (FDR < 0.05), of which 713 were differentially expressed in AAA. Functional classification using Gene Ontology (GO), KEGG, and Network Analysis revealed enrichment in several biological processes including "leukocyte migration" (FDR = 3...
2015: International Journal of Molecular Sciences
Irene Hinterseher, Charles M Schworer, John H Lillvis, Elizabeth Stahl, Robert Erdman, Zoran Gatalica, Gerard Tromp, Helena Kuivaniemi
Our previous analysis using genome-wide microarray expression data revealed extreme overrepresentation of immune related genes belonging the Natural Killer (NK) Cell Mediated Cytotoxicity pathway (hsa04650) in human abdominal aortic aneurysm (AAA). We followed up the microarray studies by immunohistochemical analyses using antibodies against nine members of the NK pathway (VAV1, VAV3, PLCG1, PLCG2, HCST, TYROBP, PTK2B, TNFA, and GZMB) and aortic tissue samples from AAA repair operations (n = 6) and control aortae (n = 8) from age-, sex- and ethnicity-matched donors from autopsies...
2015: International Journal of Molecular Sciences
Xiaohua Dai, Jianbin Shen, Neeraja Priyanka Annam, Hong Jiang, Edi Levi, Charles M Schworer, Gerard Tromp, Anandita Arora, Mary Higgins, Xiao-Fan Wang, Maozhou Yang, Hui J Li, Kezhong Zhang, Helena Kuivaniemi, Li Li
TGF-β signaling plays critical roles in the pathogenesis of aneurysms; however, it is still unclear whether its role is protective or destructive. In this study, we investigate the role of SMAD3 in the pathogenesis of calcium chloride (CaCl2)-induced abdominal aortic aneurysms (AAA) in Smad3(-/-), Smad3(+/-) and Smad3(+/+) mice. We find that loss of SMAD3 drastically increases wall thickening of the abdominal aorta. Histological analyses show significant vessel wall remodeling with elastic fiber fragmentation...
2015: Scientific Reports
Molly A Hall, Shefali S Verma, John Wallace, Anastasia Lucas, Richard L Berg, John Connolly, Dana C Crawford, David R Crosslin, Mariza de Andrade, Kimberly F Doheny, Jonathan L Haines, John B Harley, Gail P Jarvik, Terrie Kitchner, Helena Kuivaniemi, Eric B Larson, David S Carrell, Gerard Tromp, Tamara R Vrabec, Sarah A Pendergrass, Catherine A McCarty, Marylyn D Ritchie
Bioinformatics approaches to examine gene-gene models provide a means to discover interactions between multiple genes that underlie complex disease. Extensive computational demands and adjusting for multiple testing make uncovering genetic interactions a challenge. Here, we address these issues using our knowledge-driven filtering method, Biofilter, to identify putative single nucleotide polymorphism (SNP) interaction models for cataract susceptibility, thereby reducing the number of models for analysis. Models were evaluated in 3,377 European Americans (1,185 controls, 2,192 cases) from the Marshfield Clinic, a study site of the Electronic Medical Records and Genomics (eMERGE) Network, using logistic regression...
July 2015: Genetic Epidemiology
Marylyn D Ritchie, Mariza de Andrade, Helena Kuivaniemi
No abstract text is available yet for this article.
2015: Frontiers in Genetics
Audrey Courtois, Betty V Nusgens, Roland Hustinx, Gauthier Namur, Pierre Gomez, Helena Kuivaniemi, Jean-Olivier Defraigne, Alain C Colige, Natzi Sakalihasan
Rupture of abdominal aortic aneurysm (AAA) is a cause of significant mortality and morbidity in aging populations. Uptake of 18-fluorodeoxyglucose (FDG) detected by positron emission tomography (PET) is observed in the wall of 12% of AAA (A+), with most of them being symptomatic. We previously showed that the metabolically active areas displayed adventitial inflammation, medial degeneration and molecular alterations prefacing wall rupture. The aim of this study was to identify new factors predictive of rupture...
2014: Molecular Medicine
Diane T Smelser, Gerard Tromp, James R Elmore, Helena Kuivaniemi, David P Franklin, H Lester Kirchner, David J Carey
BACKGROUND: Using abdominal aortic aneurysm (AAA) as a model, this case-control study used electronic medical record (EMR) data to assess known risk factors and identify new associations. METHODS: The study population consisted of cases with AAA (n =888) and controls (n =10,523) from the Geisinger Health System EMR in Central and Northeastern Pennsylvania. We extracted all clinical and diagnostic data for these patients from January 2004 to December 2009 from the EMR...
2014: BMC Cardiovascular Disorders
David R Crosslin, Gerard Tromp, Amber Burt, Daniel S Kim, Shefali S Verma, Anastasia M Lucas, Yuki Bradford, Dana C Crawford, Sebastian M Armasu, John A Heit, M Geoffrey Hayes, Helena Kuivaniemi, Marylyn D Ritchie, Gail P Jarvik, Mariza de Andrade
Combining samples across multiple cohorts in large-scale scientific research programs is often required to achieve the necessary power for genome-wide association studies. Controlling for genomic ancestry through principal component analysis (PCA) to address the effect of population stratification is a common practice. In addition to local genomic variation, such as copy number variation and inversions, other factors directly related to combining multiple studies, such as platform and site recruitment bias, can drive the correlation patterns in PCA...
2014: Frontiers in Genetics
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