Experts and Doctors on genetic predisposition to disease in United States


Locale: United States
Topic: genetic predisposition to disease

Top Publications

  1. Steenholdt C, Hernandez J. Risk factors for umbilical hernia in Holstein heifers during the first two months after birth. J Am Vet Med Assoc. 2004;224:1487-90 pubmed
    ..Attributable proportion analysis indicated that the frequency of umbilical hernias in Holstein heifers with umbilical infection would have been reduced by 82% if umbilical infection had been prevented. ..
  2. Burgess J, Pedraza O, Graff Radford N, Hirpa M, Zou F, Miles R, et al. Association of common KIBRA variants with episodic memory and AD risk. Neurobiol Aging. 2011;32:557.e1-9 pubmed publisher
    ..06) but not cerebellum. These results suggest a modest role for KIBRA as a cognition and AD risk gene, and also highlight the multifactorial complexity of its genetic associations. ..
  3. McCormick D, Grady J, Diego A, Matalon R, Revai K, Patel J, et al. Acute otitis media severity: association with cytokine gene polymorphisms and other risk factors. Int J Pediatr Otorhinolaryngol. 2011;75:708-12 pubmed publisher
  4. Connor A, Baumgartner R, Baumgartner K, Kerber R, Pinkston C, John E, et al. Associations between TCF7L2 polymorphisms and risk of breast cancer among Hispanic and non-Hispanic white women: the Breast Cancer Health Disparities Study. Breast Cancer Res Treat. 2012;136:593-602 pubmed publisher
    ..85-1.32). We did not find significant interactions by ethnicity or by genetic admixture. Findings support an association between TCF7L2 and breast cancer and history of diabetes modifies this association for specific variants. ..
  5. Kim T, Cui R, Jeon Y, Lee J, Lee J, Sim H, et al. Long-range interaction and correlation between MYC enhancer and oncogenic long noncoding RNA CARLo-5. Proc Natl Acad Sci U S A. 2014;111:4173-8 pubmed publisher
    ..Finally, we demonstrate that CARLo-5 has a function in cell-cycle regulation and tumor development. Overall, our data provide a key of the mystery of the 8q24 gene desert. ..
  6. Chun Y, Lindor N, Smyrk T, Petersen B, Burgart L, Guilford P, et al. Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated?. Cancer. 2001;92:181-7 pubmed
    ..However, prophylactic total gastrectomy should be undertaken cautiously because the procedure may be associated with considerable morbidity. ..
  7. Lin F, Spencer D, Hatala D, Levine A, Medof M. Decay-accelerating factor deficiency increases susceptibility to dextran sulfate sodium-induced colitis: role for complement in inflammatory bowel disease. J Immunol. 2004;172:3836-41 pubmed
  8. McMillen B, Joyner P, Parmar C, Tyer W, Williams H. Effects of NMDA glutamate receptor antagonist drugs on the volitional consumption of ethanol by a genetic drinking rat. Brain Res Bull. 2004;64:279-84 pubmed
    ..This interaction should be explored further for its therapeutic potential and to better understand the control by central neuronal systems of the consumption of ethanol...
  9. Crawford N, Colliver D, Funke A, Young M, Kelley S, Cobbs G, et al. Characterization of genotype-phenotype relationships and stratification by the CARD15 variant genotype for inflammatory bowel disease susceptibility loci using multiple short tandem repeat genetic markers. Hum Mutat. 2005;25:156-66 pubmed
    ..040, P = 0.004). Evidence is also given for potential interactions between CARD15and IBD2/IBD5. Other findings include an association of IBD2 with UC, and an association of IBD1 with terminal ileal and colonic/ileocolonic CD. ..

More Information

Publications720 found, 100 shown here

  1. Houghtaling S, Granville L, Akkari Y, Torimaru Y, Olson S, Finegold M, et al. Heterozygosity for p53 (Trp53+/-) accelerates epithelial tumor formation in fanconi anemia complementation group D2 (Fancd2) knockout mice. Cancer Res. 2005;65:85-91 pubmed
    ..Therefore, Trp53 is required for the S phase checkpoint activation observed in Fancd2 mutant cells. Fancd2(-/-)/Trp53(-/-) cells showed an increase in aneuploidy and had multiple gross chromosomal rearrangements. ..
  2. Wynne L, Tienari P, Nieminen P, Sorri A, Lahti I, Moring J, et al. I. Genotype-environment interaction in the schizophrenia spectrum: genetic liability and global family ratings in the Finnish Adoption Study. Fam Process. 2006;45:419-34 pubmed
    ..Either low genetic liability or healthy rearing protected against a spectrum outcomes for the adoptees. Initial adoptive parent diagnosis, as a proxy for rearing family dysfunction, predicted to adoptee outcome only as a trend. ..
  3. Lima J, Mohapatra S, Feng H, Lockey R, Jena P, Castro M, et al. A polymorphism in the NPPA gene associates with asthma. Clin Exp Allergy. 2008;38:1117-23 pubmed publisher
    ..3%. For rs5067, the risks of asthma in carriers of the C allele in the screening and replicate cohorts were reduced by 50% and 76%, respectively. NPPA may be an important susceptibility gene for asthma. ..
  4. Farrer M, Williams L, Algom A, Kachergus J, Hulihan M, Ross O, et al. Glucosidase-beta variations and Lewy body disorders. Parkinsonism Relat Disord. 2009;15:414-6 pubmed publisher
    ..0 (95% CI: 0.3-29, p=0.3). All three affected carriers were classified as diffuse Lewy body disease (n=3/50; 6%). Our study suggests glucosidase-beta variants have a limited role in susceptibility to Lewy body disease in North America. ..
  5. Kim T, Park J, Kim H, Chung J, Kim J. Association of histone deacetylase genes with schizophrenia in Korean population. Psychiatry Res. 2010;178:266-9 pubmed publisher
    ..The results suggest that HDAC3 and HDAC4 genes might play a role in the pathophysiology of schizophrenia in a Korean population. ..
  6. White S, Mousel M, Herrmann Hoesing L, Reynolds J, Leymaster K, Neibergs H, et al. Genome-wide association identifies multiple genomic regions associated with susceptibility to and control of ovine lentivirus. PLoS ONE. 2012;7:e47829 pubmed publisher
    ..A recent study identified TMEM154 variants in OvLV susceptibility. The objective here was to identify additional loci associated with odds and/or control of OvLV infection...
  7. Seldin M, Meng Y, Qi H, Zhu W, Wang Z, Hazen S, et al. Trimethylamine N-Oxide Promotes Vascular Inflammation Through Signaling of Mitogen-Activated Protein Kinase and Nuclear Factor-κB. J Am Heart Assoc. 2016;5: pubmed publisher
    ..Our results suggest a likely contributory mechanism for TMAO-dependent enhancement in atherosclerosis and cardiovascular risks. ..
  8. Gorman J, Hundhausen C, Errett J, STONE A, Allenspach E, Ge Y, et al. The A946T variant of the RNA sensor IFIH1 mediates an interferon program that limits viral infection but increases the risk for autoimmunity. Nat Immunol. 2017;18:744-752 pubmed publisher
  9. Emara M, Lapierre R, Greene G, Knieriem M, Rosenberger J, Pollock D, et al. Phenotypic variation among three broiler pure lines for Marek's disease, coccidiosis, and antibody response to sheep red blood cells. Poult Sci. 2002;81:642-8 pubmed
    ..Based on the phenotypic differences between Lines 1 and 3, they were chosen to establish a mapping population for identifying candidate genes that affect MD and coccidiosis in commercial broiler chickens. ..
  10. Czaja A. Current concepts in autoimmune hepatitis. Ann Hepatol. 2005;4:6-24 pubmed
    ..New immunosuppressive agents and site-specific interventions promise to improve care. ..
  11. Tester D, Kopplin L, Will M, Ackerman M. Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. Heart Rhythm. 2005;2:1099-105 pubmed
    ..A diagnosis of "atypical LQTS" may warrant consideration of CPVT and analysis of RyR2 if the standard cardiac channel gene screen for LQTS is negative. ..
  12. Tayo B, Harders R, Luke A, Zhu X, Cooper R. Latent common genetic components of obesity traits. Int J Obes (Lond). 2008;32:1799-806 pubmed publisher
    ..These findings provide a support for multivariate-based approach for investigating pleiotropic effects on obesity-related traits, which can be applied in both genetic linkage and association mapping. ..
  13. Barnard J. Screening and surveillance recommendations for pediatric gastrointestinal polyposis syndromes. J Pediatr Gastroenterol Nutr. 2009;48 Suppl 2:S75-8 pubmed publisher
  14. Chocano Bedoya P, Ronnenberg A. Vitamin D and tuberculosis. Nutr Rev. 2009;67:289-93 pubmed publisher
    ..However, sufficient evidence is available to warrant larger epidemiologic studies that should aim to identify possible interactions between VDR polymorphisms and vitamin D status. ..
  15. Fu Z, Regan K, Zhang L, Muders M, Thibodeau S, French A, et al. Deficiencies in Chfr and Mlh1 synergistically enhance tumor susceptibility in mice. J Clin Invest. 2009;119:2714-24 pubmed publisher
    ..These results suggest that defects in both Chfr and Mlh1 synergistically increase predisposition to tumorigenesis. ..
  16. Camilleri M, Carlson P, Zinsmeister A, McKinzie S, Busciglio I, Burton D, et al. Neuropeptide S receptor induces neuropeptide expression and associates with intermediate phenotypes of functional gastrointestinal disorders. Gastroenterology. 2010;138:98-107.e4 pubmed publisher
    ..Expression of several neuropeptides is induced upon NPS-NPSR1 signaling; NPSR1 variants are associated with colonic transit in FGID. The role of the NPS system in FGID deserves further study. ..
  17. Kristal A, Price D, Till C, Schenk J, Neuhouser M, Ockers S, et al. Androgen receptor CAG repeat length is not associated with the risk of incident symptomatic benign prostatic hyperplasia: results from the Prostate Cancer Prevention Trial. Prostate. 2010;70:584-90 pubmed publisher
    ..There were no associations of AR CAG repeat length and BPH risk. Knowledge of AR CAG repeat length provides no clinical useful information for the prevention of symptomatic BPH. ..
  18. Wright J, Kwon E, Lin D, Kolb S, Koopmeiners J, Feng Z, et al. CYP17 polymorphisms and prostate cancer outcomes. Prostate. 2010;70:1094-101 pubmed publisher
    ..However, men with the variant A allele in rs10883783 had a 56% risk reduction in PCSM (HR 0.44, 95% CI 0.21-0.98). These data suggest that genetic variation in the CYP17 gene in Caucasian men is associated with PCa survival. ..
  19. Wideman R, Eanes M, Hamal K, Anthony N. Pulmonary vascular pressure profiles in broilers selected for susceptibility to pulmonary hypertension syndrome: age and sex comparisons. Poult Sci. 2010;89:1815-24 pubmed publisher
    ..Susceptibility to PHS can be attributed primarily to pulmonary arterial hypertension associated with increased precapillary (arteriole) resistance. ..
  20. MacKenzie J, Roosa K, Gump B, Dumas A, Bendinskas K. Plasma prekallikrein levels are positively associated with circulating lipid levels and the metabolic syndrome in children. Appl Physiol Nutr Metab. 2010;35:518-25 pubmed publisher
    ..These novel findings warrant further investigations into the relationship between circulating PK levels and CVD risk factors because PK may be involved in the progression of the disease state. ..
  21. Snapinn K, Larson E, Kawakami H, Ujike H, Borenstein A, Izumi Y, et al. The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population. Parkinsonism Relat Disord. 2011;17:473-5 pubmed publisher
    ..47-1.20; YY vs. SS, OR, 0.64; 95% CI, 0.36-1.14; trend test, P=0.12). These results indicate that, if involved in PD, the S18Y variant is not a major determinant of risk and its effect might be restricted to early-onset disease. ..
  22. Go Y, Bailey E, Cook D, Coleman S, MacLeod J, Chen K, et al. Genome-wide association study among four horse breeds identifies a common haplotype associated with in vitro CD3+ T cell susceptibility/resistance to equine arteritis virus infection. J Virol. 2011;85:13174-84 pubmed publisher
    ..To our knowledge, this is the first GWAS of an equine infectious disease and the first GWAS of equine viral arteritis...
  23. Hastie B, Riley J, Kaplan L, Herrera D, Campbell C, Virtusio K, et al. Ethnicity interacts with the OPRM1 gene in experimental pain sensitivity. Pain. 2012;153:1610-9 pubmed publisher
    ..These findings demonstrate an ethnicity-dependent association of OPRM1 genotype with pain sensitivity. Additional research is warranted to uncover the mechanisms influencing these relationships. ..
  24. Mata I, Checkoway H, Hutter C, Samii A, Roberts J, Kim H, et al. Common variation in the LRRK2 gene is a risk factor for Parkinson's disease. Mov Disord. 2012;27:1822-5 pubmed publisher
    ..08-1.33; P = 6.3 × 10(-4); rs11176013, OR, 0.89; CI, 0.83-0.95; P = 4.6 × 10(-4)). Our data suggest that common variation within LRRK2 conveys susceptibility for PD in individuals of European ancestry. ..
  25. Byers P, Pyott S. Recessively inherited forms of osteogenesis imperfecta. Annu Rev Genet. 2012;46:475-97 pubmed publisher
    ..These hopes are yet to be met, but the study of the recessively inherited forms of OI has illuminated the details of the collagen processing pathways. ..
  26. Sepe S, Nardacci R, Fanelli F, Rosso P, Bernardi C, Cecconi F, et al. Expression of Ambra1 in mouse brain during physiological and Alzheimer type aging. Neurobiol Aging. 2014;35:96-108 pubmed publisher
    ..Thus, novel therapeutic approaches, based on autophagy modulation, should also take into account the age-dependent roles of this mechanism in establishing, promoting, or counteracting neurodegeneration. ..
  27. Lu X, Zoller E, Weirauch M, Wu Z, Namjou B, Williams A, et al. Lupus Risk Variant Increases pSTAT1 Binding and Decreases ETS1 Expression. Am J Hum Genet. 2015;96:731-9 pubmed publisher
    ..We propose a model in which the risk allele of rs6590330 is associated with decreased ETS1 expression and increases SLE risk by enhancing the binding of pSTAT1. ..
  28. Mez J, Mukherjee S, Thornton T, Fardo D, Trittschuh E, Sutti S, et al. The executive prominent/memory prominent spectrum in Alzheimer's disease is highly heritable. Neurobiol Aging. 2016;41:115-121 pubmed publisher
    ..The chromosomal pattern of heritability differed substantially from that of LOAD itself. ..
  29. Archer N, Pérez Andreu V, Stoltze U, Scheurer M, Wilkinson A, Lin T, et al. Family-based exome-wide association study of childhood acute lymphoblastic leukemia among Hispanics confirms role of ARID5B in susceptibility. PLoS ONE. 2017;12:e0180488 pubmed publisher
    ..Our results confirmed the role of ARID5B in childhood ALL susceptibility among Hispanics; however, our assessment did not reveal any strong novel inherited genetic risks for acute lymphoblastic leukemia among this ethnic group. ..
  30. Padia R, Alt J, Curtin K, Muntz H, Orlandi R, Berger J, et al. Environmental contributions to otitis media requiring tympanostomy tubes. Int J Pediatr Otorhinolaryngol. 2017;101:97-101 pubmed publisher
    ..Further characterization of high-risk pedigrees is needed for future genomic studies. ..
  31. Gross K, Panhuysen C, Kleinman M, Goldhammer H, Jones E, Nassery N, et al. Involvement of fumarate hydratase in nonsyndromic uterine leiomyomas: genetic linkage analysis and FISH studies. Genes Chromosomes Cancer. 2004;41:183-90 pubmed
    ..7 at D1S547, P = 0.04). FISH results showed that one copy of FH was absent in 9 of 11 ULs. These data indicate that loss of FH might be a significant event in the pathogenesis of a subset of nonsyndromic ULs. ..
  32. Saxena K, Ranalli M, Khan N, Blanchong C, Kahwash S. Fatal stroke in a child with severe iron deficiency anemia and multiple hereditary risk factors for thrombosis. Clin Pediatr (Phila). 2005;44:175-80 pubmed
  33. Jun G, Klein B, Klein R, Fox K, Millard C, Capriotti J, et al. Genome-wide analyses demonstrate novel loci that predispose to drusen formation. Invest Ophthalmol Vis Sci. 2005;46:3081-8 pubmed
    ..The results show that APOE effects may be mediated early in the progression of ARM to AMD and thus may not be detected by standard genome scans for more severe disease. ..
  34. D Orazio S, Troese M, Starnbach M. Cytosolic localization of Listeria monocytogenes triggers an early IFN-gamma response by CD8+ T cells that correlates with innate resistance to infection. J Immunol. 2006;177:7146-54 pubmed
    ..These data suggest that participation of memory CD8+ T cells in the early immune response against L. monocytogenes correlates with innate host resistance to infection. ..
  35. Andrew A, Mason R, Kelsey K, Schned A, Marsit C, Nelson H, et al. DNA repair genotype interacts with arsenic exposure to increase bladder cancer risk. Toxicol Lett. 2009;187:10-4 pubmed publisher
    ..01). Haplotype analysis confirmed the association of the XRCC3 241. Thus, double-strand break repair genotype may enhance arsenic associated bladder cancer susceptibility in the U.S. population. ..
  36. Kuncl R. Agents and mechanisms of toxic myopathy. Curr Opin Neurol. 2009;22:506-15 pubmed publisher
  37. Vogt D, Thomas D, Galvan V, Bredesen D, Lamb B, Pimplikar S. Abnormal neuronal networks and seizure susceptibility in mice overexpressing the APP intracellular domain. Neurobiol Aging. 2011;32:1725-9 pubmed publisher
    ..These data suggest that alterations in the levels of AICD contribute to network dysfunction in AD. ..
  38. Valdivia C, Medeiros Domingo A, Ye B, Shen W, Algiers T, Ackerman M, et al. Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation. Cardiovasc Res. 2010;86:392-400 pubmed publisher
    ..This study provides molecular and cellular evidence implicating mutations in Navbeta3 as a cause of IVF. ..
  39. Zaccaria K, Lagace D, Eisch A, McCasland J. Resistance to change and vulnerability to stress: autistic-like features of GAP43-deficient mice. Genes Brain Behav. 2010;9:985-96 pubmed publisher
    ..Strain-specific low sociability may be advantageous in these studies, creating a more autistic-like environment for study of the GAP43-mediated deficits of resistance to change and vulnerability to stress. ..
  40. Dachsel J, Wider C, Vilariño Güell C, Aasly J, Rajput A, Rajput A, et al. Death-associated protein kinase 1 variation and Parkinson's disease. Eur J Neurol. 2011;18:1090-3 pubmed publisher
    ..However, further functional studies are required to elucidate the potential therapeutic implications with the dimerization of the Dapk1 and Lrrk2 proteins. ..
  41. Cohen D, Mittalhenkle A, Scott D, Young C, Norman D. African American living-kidney donors should be screened for APOL1 risk alleles. Transplantation. 2011;92:722-5 pubmed publisher
    ..We propose a strategy for screening for the presence of APOL1 risk alleles among African American living kidney donors and for living-related donors for African American recipients. ..
  42. Tang W, Wu Y, Hartiala J, Fan Y, Stewart A, Roberts R, et al. Clinical and genetic association of serum ceruloplasmin with cardiovascular risk. Arterioscler Thromb Vasc Biol. 2012;32:516-22 pubmed publisher
    ..Genetic variants at the CP locus that modestly affect serum Cp levels are not associated with prevalent or incident risk of coronary artery disease in this study population. ..
  43. Moran R, Kuilenburg A, Duley J, Nabuurs S, Retno Fitri A, Christodoulou J, et al. Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. Am J Med Genet A. 2012;158A:455-60 pubmed publisher
  44. Reid R, McBride C, Alford S, Price C, Baxevanis A, Brody L, et al. Association between health-service use and multiplex genetic testing. Genet Med. 2012;14:852-9 pubmed publisher
    ..This study supports the supposition that multiplex genetic testing offers can be provided directly to the patients in such a way that use of health services is not inappropriately increased. ..
  45. Damman C, Miller S, Surawicz C, Zisman T. The microbiome and inflammatory bowel disease: is there a therapeutic role for fecal microbiota transplantation?. Am J Gastroenterol. 2012;107:1452-9 pubmed publisher
    ..Further clinical studies are justified, and could be complemented by mouse models of fecal transplantation, in which variables can be controlled and manipulated. ..
  46. Vemula S, Xiao J, Bastian R, Momcilovic D, Blitzer A, Ledoux M. Pathogenic variants in TUBB4A are not found in primary dystonia. Neurology. 2014;82:1227-30 pubmed publisher
  47. Dunning A, Michailidou K, Kuchenbaecker K, Thompson D, French J, Beesley J, et al. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nat Genet. 2016;48:374-86 pubmed publisher
  48. Raffield L, Zakai N, Duan Q, Laurie C, Smith J, Irvin M, et al. D-Dimer in African Americans: Whole Genome Sequence Analysis and Relationship to Cardiovascular Disease Risk in the Jackson Heart Study. Arterioscler Thromb Vasc Biol. 2017;37:2220-2227 pubmed publisher
  49. Pierce K, Kirkpatrick B. Update on human infections caused by intestinal protozoa. Curr Opin Gastroenterol. 2009;25:12-7 pubmed
  50. Finch N, Carrasquillo M, Baker M, Rutherford N, Coppola G, DeJesus Hernandez M, et al. TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers. Neurology. 2011;76:467-74 pubmed publisher
    ..In our study, TMEM106B SNPs significantly reduced the disease penetrance in patients with GRN mutations, potentially by modulating GRN levels. These findings hold promise for the development of future protective therapies for FTLD. ..
  51. Soubrier F, Chung W, Machado R, Grunig E, Aldred M, Geraci M, et al. Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol. 2013;62:D13-21 pubmed publisher
  52. Habeebu S, Liu J, Liu Y, Klaassen C. Metallothionein-null mice are more susceptible than wild-type mice to chronic CdCl(2)-induced bone injury. Toxicol Sci. 2000;56:211-9 pubmed
  53. Kelemen L, Sellers T, Schildkraut J, Cunningham J, Vierkant R, Pankratz V, et al. Genetic variation in the one-carbon transfer pathway and ovarian cancer risk. Cancer Res. 2008;68:2498-506 pubmed publisher
    ..Interventions with modifiable factors such as multivitamin intake may reduce risk. ..
  54. Mei L, Xiong W. Neuregulin 1 in neural development, synaptic plasticity and schizophrenia. Nat Rev Neurosci. 2008;9:437-52 pubmed publisher
    ..An improved understanding of the mechanisms by which altered function of NRG1 and ErbB4 contributes to schizophrenia might eventually lead to the development of more effective therapeutics. ..
  55. Radulescu A, Yu X, Orvets N, Chen Y, Zhang H, Besner G. Deletion of the heparin-binding epidermal growth factor-like growth factor gene increases susceptibility to necrotizing enterocolitis. J Pediatr Surg. 2010;45:729-34 pubmed publisher
    ..Our results provide evidence that loss of the HB-EGF gene increases susceptibility to NEC and that administration of exogenous HB-EGF reverses this susceptibility. ..
  56. Misch E, Berrington W, Vary J, Hawn T. Leprosy and the human genome. Microbiol Mol Biol Rev. 2010;74:589-620 pubmed publisher
    ..leprae pathogenesis and are likely to advance our understanding of the immune response to other pathogenic mycobacteria. This knowledge may inform new treatment or vaccine strategies for leprosy or tuberculosis...
  57. Garrity Park M, Loftus E, Sandborn W, Smyrk T. Myeloperoxidase immunohistochemistry as a measure of disease activity in ulcerative colitis: association with ulcerative colitis-colorectal cancer, tumor necrosis factor polymorphism and RUNX3 methylation. Inflamm Bowel Dis. 2012;18:275-83 pubmed publisher
    ..The epigenetic/genetic associations related to elevated MPO staining in UC-CRC may offer new methods for risk stratification and adjunctive screening tools. ..
  58. Cerhan J, Fredericksen Z, Novak A, Ansell S, Kay N, Liebow M, et al. A two-stage evaluation of genetic variation in immune and inflammation genes with risk of non-Hodgkin lymphoma identifies new susceptibility locus in 6p21.3 region. Cancer Epidemiol Biomarkers Prev. 2012;21:1799-806 pubmed publisher
    ..Non-Hodgkin lymphoma (NHL) is a malignancy of lymphocytes, and there is growing evidence for a role of germline genetic variation in immune genes in NHL etiology...
  59. Bieniek K, van Blitterswijk M, Baker M, Petrucelli L, Rademakers R, Dickson D. Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia. JAMA Neurol. 2014;71:775-81 pubmed publisher
    ..This report increases the range of clinicopathologic presentations of C9ORF72 expanded hexanucleotide repeat to include psychiatric disorders such as depressive pseudodementia. ..
  60. Aminoshariae A, Kulild J. Association of Functional Gene Polymorphism with Apical Periodontitis. J Endod. 2015;41:999-1007 pubmed publisher
    ..More research in this area is warranted to determine greater specificity in these possible interactions. ..
  61. Hochberger W, Hill S, Nelson C, Reilly J, Keefe R, Pearlson G, et al. Unitary construct of generalized cognitive ability underlying BACS performance across psychotic disorders and in their first-degree relatives. Schizophr Res. 2016;170:156-61 pubmed publisher
  62. Ambatipudi S, Horvath S, Perrier F, Cuenin C, Hernandez Vargas H, Le Calvez Kelm F, et al. DNA methylome analysis identifies accelerated epigenetic ageing associated with postmenopausal breast cancer susceptibility. Eur J Cancer. 2017;75:299-307 pubmed publisher
    ..Epigenetic age acceleration and CpG island methylation have a weak, but statistically significant, association with breast cancer susceptibility. ..
  63. Singh A, Moore P, Gern J, Lemanske R, Hartert T. Bronchiolitis to asthma: a review and call for studies of gene-virus interactions in asthma causation. Am J Respir Crit Care Med. 2007;175:108-19 pubmed
    ..Characterizing these relationships offers the potential of identifying at-risk hosts in whom preventing or delaying infection could alter the phenotypic expression of asthma. ..
  64. Giurgiutiu D, Espinoza L, Wood T, DuPont B, Holden K. Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant. J Child Neurol. 2008;23:112-7 pubmed publisher
    ..Extensive laboratory investigations indicate that the short-chain acyl-CoA dehydrogenase gene variant is likely preventing or delaying the normal expression of the Prader-Willi syndrome phenotype...
  65. Quick S, Shields P, Nie J, Platek M, McCann S, Hutson A, et al. Effect modification by catalase genotype suggests a role for oxidative stress in the association of hormone replacement therapy with postmenopausal breast cancer risk. Cancer Epidemiol Biomarkers Prev. 2008;17:1082-7 pubmed publisher
    ..50-3.59). Increased risk was limited to estrogen receptor-positive tumors. Our findings suggest that CAT genotype modifies the effect of HRT use on breast cancer risk and that HRT may affect risk by affecting oxidative stress. ..
  66. MacKay E, Kallberg M, Barrie K, Miller W, Sapienza J, Denis H, et al. Myocilin protein levels in the aqueous humor of the glaucomas in selected canine breeds. Vet Ophthalmol. 2008;11:234-41 pubmed publisher
    ..Further studies are indicated to investigate the exact role of the aqueous humor myocilin protein in the genesis in increased IOP in these primary glaucomatous breeds. ..
  67. Hawn T, Scholes D, Li S, Wang H, Yang Y, Roberts P, et al. Toll-like receptor polymorphisms and susceptibility to urinary tract infections in adult women. PLoS ONE. 2009;4:e5990 pubmed publisher
    ..Although these data suggest that TLR polymorphisms are associated with adult susceptibility to UTIs, the statistical significance was modest and will require further study including validation with independent cohorts. ..
  68. Robinette R, Oli M, McArthur W, Brady L. Beneficial immunomodulation by Streptococcus mutans anti-P1 monoclonal antibodies is Fc independent and correlates with increased exposure of a relevant target epitope. J Immunol. 2009;183:4628-38 pubmed publisher
  69. Tester D, Valdivia C, Harris Kerr C, Alders M, Salisbury B, Wilde A, et al. Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation. Heart Rhythm. 2010;7:912-9 pubmed publisher
    ..These results also question how much cellular dysfunction for a mutation is required in vitro to support pathogenicity. ..
  70. Tester D, Benton A, Train L, Deal B, Baudhuin L, Ackerman M. Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing. Am J Cardiol. 2010;106:1124-8 pubmed publisher
  71. Bamshad M, Ng S, Bigham A, Tabor H, Emond M, Nickerson D, et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet. 2011;12:745-55 pubmed publisher
    ..These advances also set the stage for applying exome and whole-genome sequencing to facilitate clinical diagnosis and personalized disease-risk profiling. ..
  72. Yeter D, Deth R. ITPKC susceptibility in Kawasaki syndrome as a sensitizing factor for autoimmunity and coronary arterial wall relaxation induced by thimerosal's effects on calcium signaling via IP3. Autoimmun Rev. 2012;11:903-8 pubmed publisher
    ..This hypothesis also mirrors the current leading theory for KS in which a widespread infection only induces the disease in susceptible children. We conclude that KS may be the acute febrile form of acrodynia...
  73. Zhong Q, Layman L. Genetic considerations in the patient with Turner syndrome--45,X with or without mosaicism. Fertil Steril. 2012;98:775-9 pubmed publisher
  74. Moreno De Luca A, Myers S, Challman T, Moreno De Luca D, Evans D, Ledbetter D. Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence. Lancet Neurol. 2013;12:406-14 pubmed publisher
  75. Ramos P, Oates J, Kamen D, Williams A, Gaffney P, Kelly J, et al. Variable association of reactive intermediate genes with systemic lupus erythematosus in populations with different African ancestry. J Rheumatol. 2013;40:842-9 pubmed publisher
    ..These results suggest distinct patterns of association with SLE in African-derived populations; specific loci may be more strongly associated within select population groups. ..
  76. Vardarajan B, Faber K, Bird T, Bennett D, Rosenberg R, Boeve B, et al. Age-specific incidence rates for dementia and Alzheimer disease in NIA-LOAD/NCRAD and EFIGA families: National Institute on Aging Genetics Initiative for Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease (NIA-LOAD/NCRAD) and. JAMA Neurol. 2014;71:315-23 pubmed publisher
    ..The incidence rates in all groups increase with age. The higher incidence of LOAD can be explained by segregation of Alzheimer disease-related genes in these families or shared environmental risks. ..
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    ..This study lays the foundation for prospective studies and for introducing NGS in NBS laboratories. ..
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    ..004). Taken together, our data suggest that functional interactions between KIR and HLA modify risks of BCC and SCC and that KIR encoded by the B genes provides selective pressure for altered p53 in BCC tumors. ..
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    ..We propose a 2-hit model whereby IUL TCDD exposure sensitizes mice to exogenous-hormone-induced urinary tract dysfunction later in life. ..
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    ..21 +/- 0.22 to 0.61 +/- 1.9%. These results demonstrate that both strain and sex hormonal effects on susceptibility to liver carcinogenesis are dependent on wild-type levels of growth hormone. ..
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    ..Additional research is needed to determine whether these findings reflect no role for OPRM1 in determining risk for SD or whether another polymorphism in the gene influences receptor function and risk for SD. ..
  83. Quezada E, Gripp K. Costello syndrome and related disorders. Curr Opin Pediatr. 2007;19:636-44 pubmed
    ..Molecular testing is available and a clinical diagnosis should be reconsidered if it is inconsistent with the molecular result. ..
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    ..This animal model will facilitate studies of autoimmunity to GAD65 in the context of HLA-DQ8, and development of methods to induce tolerance and prevent insulitis. ..
  85. Rosenbaum P, Crawford J, Anagnost S, Wang C, Hunt A, Anbar R, et al. Indoor airborne fungi and wheeze in the first year of life among a cohort of infants at risk for asthma. J Expo Sci Environ Epidemiol. 2010;20:503-15 pubmed publisher
    ..75; 95% CI 0.99-7.61), but not after adjustment for confounders. Total fungal levels, visually observed mold, dampness, water damage or musty odors were not significantly associated with wheeze. ..
  86. Vasquez J, Fardo D, Estus S. ABCA7 expression is associated with Alzheimer's disease polymorphism and disease status. Neurosci Lett. 2013;556:58-62 pubmed publisher
    ..We interpret our findings as suggesting a model wherein increased ABCA7 expression reduces AD risk and that the increased ABCA7 observed in AD reflects an inadequate compensatory change. ..
  87. Hufnagel R, Arno G, Hein N, Hersheson J, Prasad M, Anderson Y, et al. Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet. 2015;52:85-94 pubmed publisher
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    ..These morphologic findings and our previous outcome data suggest that ALK-positive ALCLs and DUSP22-rearranged ALCLs represent prototypical ALCLs, whereas ALCLs lacking rearrangements of both DUSP22 and ALK require further study. ..
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    ..A brief overview of these different features of the human DNA mismatch repair system will be provided, with the emphasis in their implications in cancer development. ..
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    ..The review also evaluates the status of serum-based testing for circulating HER-2/neu receptor protein and its ability to predict disease outcome and therapy response. ..
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    ..05; 95% CI = 1.3-3.2). However, the interaction between genotype and family history of PCa was not significant (P = 0.52). Larger, more detailed studies are needed to fully investigate the role of serine proteases in PCa. ..
  92. Limdi N, McGwin G, Goldstein J, Beasley T, Arnett D, Adler B, et al. Influence of CYP2C9 and VKORC1 1173C/T genotype on the risk of hemorrhagic complications in African-American and European-American patients on warfarin. Clin Pharmacol Ther. 2008;83:312-21 pubmed
    ..7; 95% CI: 0.7-4.4) or minor (HR 0.8; 95% CI: 0.5-1.3) hemorrhage. The variant CYP2C9 genotype is associated with an increased risk of major hemorrhage, which persists even after stabilization of therapy. ..