Experts and Doctors on genetic predisposition to disease in Vancouver, British Columbia, Canada


Locale: Vancouver, British Columbia, Canada
Topic: genetic predisposition to disease

Top Publications

  1. John C, Soler Artigas M, Hui J, Nielsen S, Rafaels N, Pare P, et al. Genetic variants affecting cross-sectional lung function in adults show little or no effect on longitudinal lung function decline. Thorax. 2017;72:400-408 pubmed publisher
    ..Although no genetic variants have yet been associated with lung function decline at stringent genome-wide significance, longitudinal change in lung function is heritable suggesting that there is scope for future discoveries. ..
  2. Earp M, Kelemen L, Magliocco A, Swenerton K, Chenevix Trench G, Lu Y, et al. Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA. Hum Genet. 2014;133:481-97 pubmed publisher
    ..84, P = 0.0007) and LMP serous EOC risk remained statistically significant at P < 0.0012 adjusted for multiple testing. Replication in additional samples will be important to verify these results for the less-common EOC subtypes. ..
  3. Nakada T, Russell J, Boyd J, Walley K. IL17A genetic variation is associated with altered susceptibility to Gram-positive infection and mortality of severe sepsis. Crit Care. 2011;15:R254 pubmed publisher
    ..44, 95%CI 1.04-2.02, P = 0.029; VASST, adjusted OR 1.67, 95%CI 1.17-2.40, P = 0.0052). IL17A genetic variation is associated with altered susceptibility to Gram-positive infection and 28-day mortality of severe sepsis. ..
  4. Sandford A, Malhotra D, Boezen H, Siedlinski M, Postma D, Wong V, et al. NFE2L2 pathway polymorphisms and lung function decline in chronic obstructive pulmonary disease. Physiol Genomics. 2012;44:754-63 pubmed publisher
  5. Schrader K, Masciari S, Boyd N, Wiyrick S, Kaurah P, Senz J, et al. Hereditary diffuse gastric cancer: association with lobular breast cancer. Fam Cancer. 2008;7:73-82 pubmed
  6. Oble D, Collett E, Hsieh M, Ambjørn M, Law J, Dutz J, et al. A novel T cell receptor transgenic animal model of seborrheic dermatitis-like skin disease. J Invest Dermatol. 2005;124:151-9 pubmed
    ..This model implicates fungal organisms and CD4+ T cell lymphopenia in the development of a SD-like condition and, as such, may mimic the development of SD in acquired immunodeficiency syndrome. ..
  7. Russell J. Genetics of coagulation factors in acute lung injury. Crit Care Med. 2003;31:S243-7 pubmed
  8. Daley D, Park J, He J, Yan J, Akhabir L, Stefanowicz D, et al. Associations and interactions of genetic polymorphisms in innate immunity genes with early viral infections and susceptibility to asthma and asthma-related phenotypes. J Allergy Clin Immunol. 2012;130:1284-93 pubmed publisher
    ..We have identified novel susceptibility genes for asthma and related traits and interactions between these genes and early-life viral infections. ..
  9. Sung L, Dix D, Cellot S, Gillmeister B, Ethier M, Roslin N, et al. Single nucleotide polymorphism in IL1B is associated with infection risk in paediatric acute myeloid leukaemia. Clin Microbiol Infect. 2016;22:563.e9-563.e17 pubmed publisher
    ..We identified SNPs associated with infection risk in paediatric AML. Genotype may provide insight into mechanisms of infection risk that could be used for supportive-care novel treatments. ..

More Information


  1. Visscher H, Ross C, Rassekh S, Barhdadi A, Dube M, Al Saloos H, et al. Pharmacogenomic prediction of anthracycline-induced cardiotoxicity in children. J Clin Oncol. 2012;30:1422-8 pubmed publisher
    ..Combined with clinical risk factors, genetic risk profiling might be used to identify high-risk patients who can then be provided with safer treatment options. ..
  2. Sandford A, Chagani T, Weir T, Connett J, Anthonisen N, Pare P. Susceptibility genes for rapid decline of lung function in the lung health study. Am J Respir Crit Care Med. 2001;163:469-73 pubmed
    ..9, p = 0.04). The alpha1-antitrypsin S and 3' polymorphisms, vitamin D-binding protein isoforms, and tumor necrosis factor (TNF-alpha G-308A and TNF-beta A252G) polymorphisms were not associated with rate of decline of lung function. ..
  3. Dionne F, Mitton C, Rassekh R, Brooks B, Ross C, Hayden M, et al. Economic impact of a genetic test for cisplatin-induced ototoxicity. Pharmacogenomics J. 2012;12:205-13 pubmed publisher
    ..This translates into a potential present value savings of over $2.4 million annually in British Columbia and over $19.6 million in Canada. ..
  4. Machiela M, Lan Q, Slager S, Vermeulen R, Teras L, Camp N, et al. Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes. Hum Mol Genet. 2016;25:1663-76 pubmed publisher
    ..Our results indicate that a genetic background that favors longer telomere length may increase NHL risk, particularly risk of CLL/SLL, and are consistent with earlier studies relating longer telomere length with increased NHL risk. ..
  5. Hoekstra K, Godin D, Kurtu J, Cheng K. Effects of oxidant-induced injury on heme oxygenase and glutathione in cultured aortic endothelial cells from atherosclerosis-susceptible and -resistant Japanese quail. Mol Cell Biochem. 2003;254:61-71 pubmed
    ..Our results indicate that genetic factors and endogenous antioxidant systems in the blood vessel wall may be important in determining the susceptibility of vascular cells to oxidative stress and atherosclerotic plaque formation. ..
  6. Robinson W, Penaherrera M, Jiang R, Avila L, Sloan J, McFadden D, et al. Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction. Prenat Diagn. 2010;30:1-8 pubmed publisher
    ..In cases in which diagnosis of the cause of IUGR may provide some benefit, testing should be performed using uncultured cells from multiple placental biopsies for the accurate diagnosis of trisomy mosaicism. ..
  7. Macinnis M, Koehle M, Rupert J. Evidence for a genetic basis for altitude illness: 2010 update. High Alt Med Biol. 2010;11:349-68 pubmed publisher
  8. Ng B, White C, Klein H, Sieberts S, McCabe C, Patrick E, et al. An xQTL map integrates the genetic architecture of the human brain's transcriptome and epigenome. Nat Neurosci. 2017;20:1418-1426 pubmed publisher
  9. Hemmati I, Lam J. Hyper- and hypopigmented macules over palms and soles since birth--a case of dyschromatosis symmetrica hereditaria. Dermatol Online J. 2009;15:5 pubmed
    ..We report a case of a 4-year-old girl with DSH and review the pertinent features of this genodermatosis. ..
  10. Taylor S. Disorder-specific genetic factors in obsessive-compulsive disorder: A comprehensive meta-analysis. Am J Med Genet B Neuropsychiatr Genet. 2016;171B:325-32 pubmed publisher
    ..Results did not differ across ancestral groups (Asian vs. Caucasian), designs (case control vs. family based), or diagnostic systems. Results suggest that the polymorphisms investigated in this study are relatively specific to OCD. ..
  11. McKay J, Hung R, Han Y, Zong X, Carreras Torres R, Christiani D, et al. Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. Nat Genet. 2017;49:1126-1132 pubmed publisher
    ..Other loci include genes such as a cholinergic nicotinic receptor, CHRNA2, and the telomere-related genes OFBC1 and RTEL1. Further exploration of the target genes will continue to provide new insights into the etiology of lung cancer...
  12. He J, Hallstrand T, Knight D, Chan Yeung M, Sandford A, Tripp B, et al. A thymic stromal lymphopoietin gene variant is associated with asthma and airway hyperresponsiveness. J Allergy Clin Immunol. 2009;124:222-9 pubmed publisher
    ..Full results are available online at A genetic variant in the region of the thymic stromal lymphopoietin gene is associated with the phenotypes of asthma and airway hyperresponsiveness. ..
  13. Austin J. Re-conceptualizing risk in genetic counseling: implications for clinical practice. J Genet Couns. 2010;19:228-34 pubmed publisher
  14. Macinnis M, Wang P, Koehle M, Rupert J. The genetics of altitude tolerance: the evidence for inherited susceptibility to acute mountain sickness. J Occup Environ Med. 2011;53:159-68 pubmed publisher
    ..Whether there is a genetic contribution to AMS susceptibility is a central question in high-altitude medicine. This article provides a systematic review of the evidence supporting such an innate predisposition...
  15. Lane Cordova A, Puterman E, Gunderson E, Chan C, Hou L, Carnethon M. Gravidity is not associated with telomere length in a biracial cohort of middle-aged women: The Coronary Artery Risk Development in Young Adults (CARDIA) study. PLoS ONE. 2017;12:e0186495 pubmed publisher
    ..The effect of 2-3 births on lifespan may be associated with delayed cellular aging. We hypothesized telomere length, a marker of cellular aging, would be longer in women who had 2-3 pregnancies...
  16. Forouzanfar N, Baranova A, Milanizadeh S, Heravi Moussavi A, Jebelli A, Abbaszadegan M. Novel candidate genes may be possible predisposing factors revealed by whole exome sequencing in familial esophageal squamous cell carcinoma. Tumour Biol. 2017;39:1010428317699115 pubmed publisher
    ..In addition, some of the Notch signaling pathway genetic mutations may act as key contributors to esophageal squamous cell carcinoma. ..
  17. Trinh D, Scott D, Morin R, Mendez Lago M, An J, Jones S, et al. Analysis of FOXO1 mutations in diffuse large B-cell lymphoma. Blood. 2013;121:3666-74 pubmed publisher
    ..The independent relationship of mutations in FOXO1 to survival, transcending the prognostic influence of the R-IPI and COO, indicates that FOXO1 mutation is a novel prognostic factor that plays an important role in DLBCL pathogenesis. ..
  18. Ali S, Hirschfeld A, Mayer M, Fortuno E, Corbett N, Kaplan M, et al. Functional genetic variation in NFKBIA and susceptibility to childhood asthma, bronchiolitis, and bronchopulmonary dysplasia. J Immunol. 2013;190:3949-58 pubmed publisher
  19. Piotrowski A, Xie J, Liu Y, Poplawski A, Gomes A, Madanecki P, et al. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nat Genet. 2014;46:182-7 pubmed publisher
    ..Our findings identify LZTR1 as a gene predisposing to an autosomal dominant inherited disorder of multiple schwannomas in ?80% of 22q-related schwannomatosis cases lacking mutation in SMARCB1. ..
  20. Greenway S, McLeod R, Hume S, Roslin N, Alvarez N, Giuffre M, et al. Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect. Can J Cardiol. 2014;30:181-7 pubmed publisher
    ..When mutation prediction algorithms are not helpful, studies of familial disease can help distinguish rare pathologic mutations from benign variants. Consideration of the family history can lead to genetic insights into CHD. ..
  21. Gharib S, Loth D, Soler Artigas M, Birkland T, Wilk J, Wain L, et al. Integrative pathway genomics of lung function and airflow obstruction. Hum Mol Genet. 2015;24:6836-48 pubmed publisher
    ..By integrating pathway analysis with population-based genomics, we unraveled biologic processes underlying pulmonary function traits and identified a candidate gene for obstructive lung disease. ..
  22. He J, Shumansky K, Connett J, Anthonisen N, Pare P, Sandford A. Association of genetic variations in the CSF2 and CSF3 genes with lung function in smoking-induced COPD. Eur Respir J. 2008;32:25-34 pubmed publisher
    ..No association was found for CSF2 SNPs and lung function, nor was there evidence of epistasis. In conclusion, genetic variation in colony-stimulating factor 3 is associated with cross-sectionally measured lung function in smokers. ..
  23. Innis S, Jacobson K. Dietary lipids in early development and intestinal inflammatory disease. Nutr Rev. 2007;65:S188-93 pubmed
    ..High dietary n-6 PUFA intake may be an important environmental modifier that contributes to inflammatory bowel diseases. ..
  24. Novik K, Spinelli J, MacArthur A, Shumansky K, Sipahimalani P, Leach S, et al. Genetic variation in H2AFX contributes to risk of non-Hodgkin lymphoma. Cancer Epidemiol Biomarkers Prev. 2007;16:1098-106 pubmed
    ..These data support the hypothesis that genetic variation in the H2AFX gene influences genetic susceptibility or resistance to some subtypes of NHL by contributing to the maintenance of genome stability. ..
  25. Hurley P, Sundi D, Shinder B, Simons B, Hughes R, Miller R, et al. Germline Variants in Asporin Vary by Race, Modulate the Tumor Microenvironment, and Are Differentially Associated with Metastatic Prostate Cancer. Clin Cancer Res. 2016;22:448-58 pubmed publisher
    ..We observed associations between ASPN D variants and oncologic outcomes, including metastasis. Our data suggest that ASPN expressed in the tumor microenvironment is a heritable modulator of metastatic progression. ..
  26. Berndt S, Camp N, Skibola C, Vijai J, Wang Z, Gu J, et al. Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia. Nat Commun. 2016;7:10933 pubmed publisher
    ..2 (rs1274963, CSRNP1, P=2.12 × 10(-7)). Pathway analyses of new and known CLL loci consistently show a strong role for apoptosis, providing further evidence for the importance of this biological pathway in CLL susceptibility. ..
  27. Qin H, Samuels J, Wang Y, Zhu Y, Grados M, Riddle M, et al. Whole-genome association analysis of treatment response in obsessive-compulsive disorder. Mol Psychiatry. 2016;21:270-6 pubmed publisher
    ..0213). Although the results presented may provide new insights into genetic mechanisms underlying treatment response in OCD, studies with larger sample sizes and detailed information on drug dosage and treatment duration are needed. ..
  28. Palma K, Zhang Y, Li X. An importin alpha homolog, MOS6, plays an important role in plant innate immunity. Curr Biol. 2005;15:1129-35 pubmed
    ..Our data highlight an essential role for nucleo-cytoplasmic trafficking, especially protein import, in plant innate immunity. ..
  29. Wallace A, He J, Burkett K, Ruan J, Connett J, Anthonisen N, et al. Contribution of alpha- and beta-defensins to lung function decline and infection in smokers: an association study. Respir Res. 2006;7:76 pubmed
  30. Yoshida E, Riley M, Arbour L. Autoimmune liver disease and the Canadian First Nations Aboriginal Communities of British Columbia's Pacific Northwest. World J Gastroenterol. 2006;12:3625-7 pubmed
    ..Evidence suggesting that autoimmune hepatitis is also more likely amongst BC's First Nations communities is also presented. ..
  31. Ho M, Yoganathan P, Chu K, Karunakaran S, Johnson J, Clee S. Diabetes genes identified by genome-wide association studies are regulated in mice by nutritional factors in metabolically relevant tissues and by glucose concentrations in islets. BMC Genet. 2013;14:10 pubmed publisher
    ..These data provide insight into the metabolic regulation of these new type 2 diabetes genes that will be important for determining how the GWAS variants affect gene expression and ultimately the development of type 2 diabetes. ..
  32. He J, Ruan J, Chan Yeung M, Becker A, Dimich Ward H, Pare P, et al. Polymorphisms of the GM-CSF genes and the development of atopic diseases in at-risk children. Chest. 2003;123:438S pubmed
  33. Schlade Bartusiak K, Brown L, Lomax B, Bruyere H, Gillan T, Hamilton S, et al. BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1). Am J Med Genet A. 2012;158A:2322-7 pubmed publisher
    ..Mitotic recombination is a common phenomenon in human cells. Thus, we hypothesize that it may be one of the mechanisms responsible for cryptic imbalances and possible abnormal phenotypes in some carriers of balanced rearrangements...
  34. Lockwood W, Thu K, Lin L, Pikor L, Chari R, Lam W, et al. Integrative genomics identified RFC3 as an amplified candidate oncogene in esophageal adenocarcinoma. Clin Cancer Res. 2012;18:1936-46 pubmed publisher
    ..RFC3 is a candidate oncogene amplified in EAC. RFC3 DNA amplification is also prevalent in other epithelial cancer types and RFC3 expression could serve as a prognostic marker. ..
  35. Brunham L, Lansberg P, Zhang L, Miao F, Carter C, Hovingh G, et al. Differential effect of the rs4149056 variant in SLCO1B1 on myopathy associated with simvastatin and atorvastatin. Pharmacogenomics J. 2012;12:233-7 pubmed publisher
    ..Our findings provide further support for a role for SLCO1B1 genotype in simvastatin-associated myopathy, and suggest that this association may be stronger for simvastatin compared with atorvastatin...
  36. Schellenberg D, Pare P, Weir T, Spinelli J, Walker B, Sandford A. Vitamin D binding protein variants and the risk of COPD. Am J Respir Crit Care Med. 1998;157:957-61 pubmed
    ..We found no difference among genotypes with respect to neutrophil chemotaxis suggesting that the protective effect of the Gc2 allele is mediated through a different mechanism. ..
  37. Mattman A, Huntsman D, Lockitch G, Langlois S, Buskard N, Ralston D, et al. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. Blood. 2002;100:1075-7 pubmed
    ..This putative mutation was found in a severely affected Portuguese man and 2 family members with the same genotype. In summary, pathologic TfR2 mutations are present outside of Italy, accounting for a small proportion of non-C282Y HH. ..
  38. Thibodeau M, Reisle C, Zhao E, Martin L, Alwelaie Y, Mungall K, et al. Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma. Cold Spring Harb Mol Case Stud. 2017;3: pubmed publisher
    ..Our findings suggest that RAD51B translocation and HMGA2 overexpression may play an important role in LMS oncogenesis. ..
  39. Turvey S, Broide D. Innate immunity. J Allergy Clin Immunol. 2010;125:S24-32 pubmed publisher
  40. Sutherland A, Walley K, Russell J. Polymorphisms in CD14, mannose-binding lectin, and Toll-like receptor-2 are associated with increased prevalence of infection in critically ill adults. Crit Care Med. 2005;33:638-44 pubmed
    ..Thus, single nucleotide polymorphisms in innate immunity receptors may alter recognition and clearance of bacteria without changing outcomes of critically ill adults with systemic inflammatory response syndrome. ..
  41. Duncan G, McCormick C, Tufaro F. The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins. J Clin Invest. 2001;108:511-6 pubmed
  42. Lavoie P, Ladd M, Hirschfeld A, Huusko J, Mahlman M, Speert D, et al. Influence of common non-synonymous Toll-like receptor 4 polymorphisms on bronchopulmonary dysplasia and prematurity in human infants. PLoS ONE. 2012;7:e31351 pubmed publisher
    ..Further studies are warranted to clarify how clinical heterogeneity may impact genetic susceptibility to BPD. ..
  43. Ng C, Janoo Gilani R, Sipahimalani P, Gallagher R, Gascoyne R, Connors J, et al. Interaction between organochlorines and the AHR gene, and risk of non-Hodgkin lymphoma. Cancer Causes Control. 2010;21:11-22 pubmed publisher
    ..Results suggest that the AHR gene may play a role in determining the risk of NHL with exposure to organochlorines, and highlight the importance of understanding gene-environment interactions. ..
  44. Lee A, Rees H, Owen D, Huntsman D. Periodic acid-schiff is superior to hematoxylin and eosin for screening prophylactic gastrectomies from CDH1 mutation carriers. Am J Surg Pathol. 2010;34:1007-13 pubmed publisher
    ..Thus, doing PAS staining instead of H&E on CDH1 mutation-positive prophylactic gastrectomy specimens may increase the detection rate of adenocarcinoma while reducing screening time. ..
  45. Selva D, Hirsch Reinshagen V, Burgess B, Zhou S, Chan J, McIsaac S, et al. The ATP-binding cassette transporter 1 mediates lipid efflux from Sertoli cells and influences male fertility. J Lipid Res. 2004;45:1040-50 pubmed
    ..01) in fertility was observed between ABCA1(-/-) males compared with WT controls across their reproductive lifespans. These results show that ABCA1 plays an important role in lipid transport in Sertoli cells and influences male fertility...
  46. Field L, Shumansky K, Ryan J, Truong D, Swiergala E, Kaplan B. Dense-map genome scan for dyslexia supports loci at 4q13, 16p12, 17q22; suggests novel locus at 7q36. Genes Brain Behav. 2013;12:56-69 pubmed publisher
    ..We conclude that dyslexia genes with relatively major effects exist, are detectable by linkage analysis despite genetic heterogeneity, and show substantial overlapping predisposition with ADHD and autism...
  47. Blanco I, Kuchenbaecker K, Cuadras D, Wang X, Barrowdale D, de Garibay G, et al. Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers. PLoS ONE. 2015;10:e0120020 pubmed publisher
    ..Together, the results of this study support the hypothesis of a causative link between altered function of AURKA-HMMR-TPX2-TUBG1 and breast carcinogenesis in BRCA1/2 mutation carriers. ..
  48. Fan J, Cowan C, Zhang L, Hayden M, Raymond L. Interaction of postsynaptic density protein-95 with NMDA receptors influences excitotoxicity in the yeast artificial chromosome mouse model of Huntington's disease. J Neurosci. 2009;29:10928-38 pubmed publisher
    ..Our results elucidate further the mechanisms underlying enhanced excitotoxicity in HD. ..
  49. Costea I, Mack D, Lemaitre R, Israel D, Marcil V, Ahmad A, et al. Interactions between the dietary polyunsaturated fatty acid ratio and genetic factors determine susceptibility to pediatric Crohn's disease. Gastroenterology. 2014;146:929-31 pubmed publisher
    ..Our findings implicate diet-gene interactions in the pathogenesis of CD. ..
  50. Brunham L, Singaraja R, Duong M, Timmins J, Fievet C, Bissada N, et al. Tissue-specific roles of ABCA1 influence susceptibility to atherosclerosis. Arterioscler Thromb Vasc Biol. 2009;29:548-54 pubmed publisher
    ..The ATP-binding cassette transporter, subfamily A, member 1 (ABCA1) plays a key role in HDL cholesterol metabolism. However, the role of ABCA1 in modulating susceptibility to atherosclerosis is controversial...
  51. Klegeris A, Giasson B, Zhang H, Maguire J, Pelech S, McGeer P. Alpha-synuclein and its disease-causing mutants induce ICAM-1 and IL-6 in human astrocytes and astrocytoma cells. FASEB J. 2006;20:2000-8 pubmed
    ..5 microM respectively. We hypothesize that the neuroinflammation stimulated by release of an excess of normal alpha-synuclein or by release of its mutated forms can be involved in the pathobiology of PD. ..
  52. Arbour L, Rezazadeh S, Eldstrom J, Weget Simms G, Rupps R, Dyer Z, et al. A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact. Genet Med. 2008;10:545-50 pubmed publisher
    ..A community participatory approach enabled a comprehensive evaluation of the impact. ..
  53. Paulus S, Hirschfeld A, Victor R, Brunstein J, Thomas E, Turvey S. Common human Toll-like receptor 4 polymorphisms--role in susceptibility to respiratory syncytial virus infection and functional immunological relevance. Clin Immunol. 2007;123:252-7 pubmed
    ..We conclude that the Asp299Gly TLR4 polymorphism does not alter receptor function and does not influence the risk of severe RSV infection. ..
  54. Lapuk A, Wu C, Wyatt A, McPherson A, McConeghy B, Brahmbhatt S, et al. From sequence to molecular pathology, and a mechanism driving the neuroendocrine phenotype in prostate cancer. J Pathol. 2012;227:286-97 pubmed publisher
    ..Finally, we identified chromothripsis in a patient with chronic prostatitis. Our results provide a strong foundation for further development of MPS-based molecular pathology. ..
  55. Bretherick K, Hanna C, Currie L, Fluker M, Hammond G, Robinson W. Estrogen receptor alpha gene polymorphisms are associated with idiopathic premature ovarian failure. Fertil Steril. 2008;89:318-24 pubmed
    ..Further studies are necessary to confirm these findings in larger patient samples and to identify the specific predisposing lesion. ..
  56. Kumar R, McGhee K, Leach S, Bonaguro R, Maclean A, Aguirre Hernandez R, et al. Initial association of NR2E1 with bipolar disorder and identification of candidate mutations in bipolar disorder, schizophrenia, and aggression through resequencing. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:880-9 pubmed publisher
    ..Analyses of NR2E1 mRNA in human brain revealed forebrain-specific transcription. The data presented support the hypothesis that genetic variation at NR2E1 may be associated with susceptibility to brain-behavior disorders. ..
  57. Hsiung G, Fok A, Feldman H, Rademakers R, Mackenzie I. rs5848 polymorphism and serum progranulin level. J Neurol Sci. 2011;300:28-32 pubmed publisher
    ..This is consistent with the finding that miR-659 binding to the high risk T allele of rs5848 may augment translational inhibition of GRN and alter risk of FTD and possibly other dementias. ..
  58. Guella I, McKenzie M, Evans D, Buerki S, Toyota E, Van Allen M, et al. De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. Am J Hum Genet. 2017;101:300-310 pubmed publisher
    ..Hence, in silico modeling of brain co-expression is an efficient method for nominating EE-associated genes to further elucidate the disorder's etiology and genotype-phenotype correlations. ..
  59. Halaschek Wiener J, Brooks Wilson A. Progeria of stem cells: stem cell exhaustion in Hutchinson-Gilford progeria syndrome. J Gerontol A Biol Sci Med Sci. 2007;62:3-8 pubmed
    ..We propose that the pattern of aging-related conditions present or absent in HGPS can provide insight into the genetic and environmental factors that contribute to normal aging. ..
  60. He J, Ruan J, Connett J, Anthonisen N, Pare P, Sandford A. Antioxidant gene polymorphisms and susceptibility to a rapid decline in lung function in smokers. Am J Respir Crit Care Med. 2002;166:323-8 pubmed
    ..20; p = 0.01). However, due to the multiple comparisons that were made, these associations may represent type 1 error. There was no association between HMOX1 (GT)n alleles and the rate of decline in lung function in smokers. ..
  61. Field L, Bonnevie Nielsen V, Pociot F, Lu S, Nielsen T, Beck Nielsen H. OAS1 splice site polymorphism controlling antiviral enzyme activity influences susceptibility to type 1 diabetes. Diabetes. 2005;54:1588-91 pubmed
    ..0025). The results suggest that host genetic response to virus infection could influence susceptibility to type 1 diabetes. ..
  62. Missirlis P, Mead C, Butland S, Ouellette B, Devon R, Leavitt B, et al. Satellog: a database for the identification and prioritization of satellite repeats in disease association studies. BMC Bioinformatics. 2005;6:145 pubmed
    ..The utility of Satellog was highlighted by prioritizing repeats for Huntington's disease and schizophrenia. Satellog is available online at ..
  63. Kurakula K, Vos M, Logiantara A, Roelofs J, Nieuwenhuis M, Koppelman G, et al. Deficiency of FHL2 attenuates airway inflammation in mice and genetic variation associates with human bronchial hyper-responsiveness. Allergy. 2015;70:1531-44 pubmed publisher
    ..These results highlight functional involvement of FHL2 in airway inflammation and identify FHL2 as a novel gene associated with asthma severity in human. ..
  64. Mackenzie I, Baker M, West G, Woulfe J, Qadi N, Gass J, et al. A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17. Brain. 2006;129:853-67 pubmed
  65. Bennett J, Blanchet M, Zhao L, Zbytnuik L, Antignano F, Gold M, et al. Bone marrow-derived mast cells accumulate in the central nervous system during inflammation but are dispensable for experimental autoimmune encephalomyelitis pathogenesis. J Immunol. 2009;182:5507-14 pubmed publisher
    ..We conclude that although mast cells do accumulate in the brain and CNS during demyelinating disease via peripheral mast cell trafficking, they are completely dispensable for development of disease. ..
  66. Harvard C, Strong E, Mercier E, Colnaghi R, Alcantara D, Chow E, et al. Understanding the impact of 1q21.1 copy number variant. Orphanet J Rare Dis. 2011;6:54 pubmed publisher
  67. Livesley J. Toward a genetically-informed model of borderline personality disorder. J Pers Disord. 2008;22:42-71 pubmed publisher
    ..The etiology of the disorder is discussed in terms of biological and environmental factors associated with each component of the phenotype. ..
  68. Xie F, Hu Y, Speert D, Turvey S, Peng G, Money D, et al. Toll-like receptor gene polymorphisms and preeclampsia risk: a case-control study and data synthesis. Hypertens Pregnancy. 2010;29:390-8 pubmed publisher
    ..Data synthesis of these data and other studies strengthens the association for early-onset and severe disease, in particular. A definitive and fully powered cohort study is required. ..
  69. Schuetz J, MacArthur A, Leach S, Lai A, Gallagher R, Connors J, et al. Genetic variation in the NBS1, MRE11, RAD50 and BLM genes and susceptibility to non-Hodgkin lymphoma. BMC Med Genet. 2009;10:117 pubmed publisher
    ..These results suggest an influence of RAD50 and NBS1 on susceptibility to diffuse large B-cell lymphoma and marginal zone lymphoma. Larger association and functional studies could confirm such a role. ..
  70. Demos M, Macri V, Farrell K, Nelson T, Chapman K, Accili E, et al. A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction. Mov Disord. 2009;24:778-82 pubmed publisher
    ..Together, our data suggests that KCNA1 mutations are associated with a broader clinical phenotype, which may include persistent cerebellar dysfunction and cognitive delay. ..
  71. Kasuga I, Hogg J, Pare P, Hayashi S, Sedgwick E, Ruan J, et al. Role of genetic susceptibility to latent adenoviral infection and decreased lung function. Respir Med. 2009;103:1672-80 pubmed publisher
    ..There was no significant difference in E1A positivity rate or lung function among the CXADR and ITGB5 genotypes. Genetic variants in HLA, CXADR and ITGB5 do not influence latent adenoviral infections and are not associated with COPD. ..