Experts and Doctors on genetic predisposition to disease in Cincinnati, Ohio, United States


Locale: Cincinnati, Ohio, United States
Topic: genetic predisposition to disease

Top Publications

  1. Hinton R, Martin L, Tabangin M, Mazwi M, Cripe L, Benson D. Hypoplastic left heart syndrome is heritable. J Am Coll Cardiol. 2007;50:1590-5 pubmed
    ..The frequent occurrence of left- and right-sided valve dysplasia in HLHS probands and the increased prevalence of BAV in family members suggests that HLHS is a severe form of valve malformation. ..
  2. Holland K, Bouley T, Horn P. Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy. Epilepsia. 2017;58:1190-1198 pubmed publisher
    ..92. Potentially pathogenic variants are present in population-based sources. Most computational algorithms overestimate pathogenicity; however, a weighted combination of several algorithms increased classification accuracy to >0.90. ..
  3. Nikiforova M, Kimura E, Gandhi M, Biddinger P, Knauf J, Basolo F, et al. BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas. J Clin Endocrinol Metab. 2003;88:5399-404 pubmed
    ..They are associated with distinct phenotypical and biological properties of papillary carcinomas and may participate in progression to poorly differentiated and anaplastic carcinomas. ..
  4. Yan Q, Bykhovskaya Y, Li R, Mengesha E, Shohat M, Estivill X, et al. Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations. Biochem Biophys Res Commun. 2006;342:1130-6 pubmed
    ..These observations suggest that human TRMU may modulate the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA mutations. ..
  5. Yang J, Saxena V, Xu H, Van Kaer L, Wang C, Singh R. Repeated alpha-galactosylceramide administration results in expansion of NK T cells and alleviates inflammatory dermatitis in MRL-lpr/lpr mice. J Immunol. 2003;171:4439-46 pubmed
    ..Our results indicate that NKT cell deficiency can be corrected by repeated alpha-GalCer treatment and that NKT cells may play a protective role in inflammatory dermatitis of lupus-prone mice. ..
  6. Martini S, Flaherty M, Brown W, Haverbusch M, Comeau M, Sauerbeck L, et al. Risk factors for intracerebral hemorrhage differ according to hemorrhage location. Neurology. 2012;79:2275-82 pubmed publisher
    ..Hypertension was associated specifically with nonlobar ICH. A protective association was seen between hypercholesterolemia and nonlobar ICH; no such association was identified for lobar ICH. ..
  7. Shahzad M, Sivakumaran T, Qaiser T, Schultz J, Hussain Z, Flanagan M, et al. Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss. Otolaryngol Head Neck Surg. 2013;149:478-87 pubmed publisher
    ..Using NGS-based platforms like OtoSeq in families segregating hearing loss will contribute to the identification of common and population-specific mutations, early diagnosis, genetic counseling, and molecular epidemiology. ..
  8. Ma Y, Thornton S, Boivin G, Hirsh D, Hirsch R, Hirsch E. Altered susceptibility to collagen-induced arthritis in transgenic mice with aberrant expression of interleukin-1 receptor antagonist. Arthritis Rheum. 1998;41:1798-805 pubmed
    ..Endogenous expression of IL-1Ra is a critical determinant of susceptibility to CIA. These findings suggest potential therapeutic interventions for autoimmune arthritis. ..
  9. Andelfinger G, Wright K, Lee H, Siemens L, Benson D. Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9. J Med Genet. 2003;40:320-4 pubmed
    ..Identification of the CTVM gene will permit mutation screening of patients with Ebstein anomaly, which should provide additional insights into the genetic programmes of valve development. ..

More Information

Publications128 found, 100 shown here

  1. Biagini Myers J, Wang N, LeMasters G, Bernstein D, Epstein T, Lindsey M, et al. Genetic and environmental risk factors for childhood eczema development and allergic sensitization in the CCAAPS cohort. J Invest Dermatol. 2010;130:430-7 pubmed publisher
    ..The results also demonstrate a susceptibility effect of the combination of CD14 and IL4Ralpha SNPs with eczema. ..
  2. Rebbeck T, Mitra N, Wan F, Healey S, McGuffog L, Chenevix Trench G, et al. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA. 2015;313:1347-61 pubmed publisher
    ..With appropriate validation, these data may have implications for risk assessment and cancer prevention decision making for carriers of BRCA1 and BRCA2 mutations. ..
  3. Davis B, Epstein T, Kottyan L, Amin P, Martin L, Maddox A, et al. Association of eosinophilic esophagitis and hypertrophic cardiomyopathy. J Allergy Clin Immunol. 2016;137:934-6.e5 pubmed publisher
  4. Oliveira S, Monteiro I. Diagnosis and management of inflammatory bowel disease in children. BMJ. 2017;357:j2083 pubmed publisher
    ..This review summarizes the evidence on the pathophysiology, diagnosis, and approaches to management of children and adolescents with IBD. ..
  5. Hewett T, Lynch T, Myer G, Ford K, Gwin R, Heidt R. Multiple risk factors related to familial predisposition to anterior cruciate ligament injury: fraternal twin sisters with anterior cruciate ligament ruptures. Br J Sports Med. 2010;44:848-55 pubmed publisher
  6. Jaworek T, Bhatti R, Latief N, Khan S, Riazuddin S, Ahmed Z. USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1. J Hum Genet. 2012;57:633-7 pubmed publisher
    ..The USH1K locus overlaps the non-syndromic deafness locus DFNB33 raising the possibility that the two disorders may be caused by allelic mutations. ..
  7. Mialet Perez J, Rathz D, Petrashevskaya N, Hahn H, Wagoner L, Schwartz A, et al. Beta 1-adrenergic receptor polymorphisms confer differential function and predisposition to heart failure. Nat Med. 2003;9:1300-5 pubmed
  8. Dinopoulos A, Kure S, Chuck G, Sato K, Gilbert D, Matsubara Y, et al. Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults. Neurology. 2005;64:1255-7 pubmed
    ..Both mutations had a 6 to 8% of normal GLDC activities when expressed in COS7 cells. ..
  9. Falcone R, Levitt M, Pena A, Bates M. Increased heritability of certain types of anorectal malformations. J Pediatr Surg. 2007;42:124-7; discussion 127-8 pubmed
    ..These new data allow for more informed counseling of families with an ARM and support the need for further genetic studies. ..
  10. Heil J, Malinowski L, Rinderknecht A, Broderick J, Franz D. Use of intravenous tissue plasminogen activator in a 16-year-old patient with basilar occlusion. J Child Neurol. 2008;23:1049-53 pubmed publisher
    ..These were likely contributing causes for her stroke. She was also homozygous for plasminogen activator inhibitor 1 (PAI-1) 4G/4G, which at present is a controversial stroke risk factor. ..
  11. Prasad V, Boivin G, Miller M, Liu L, Erwin C, Warner B, et al. Haploinsufficiency of Atp2a2, encoding the sarco(endo)plasmic reticulum Ca2+-ATPase isoform 2 Ca2+ pump, predisposes mice to squamous cell tumors via a novel mode of cancer susceptibility. Cancer Res. 2005;65:8655-61 pubmed
    ..These findings show that SERCA2 haploinsufficiency predisposes mice to tumor development via a novel mode of cancer susceptibility involving a global change in the tumorigenic potential of keratinized epithelium in Atp2a2+/- mice. ..
  12. Williams J, Wu J, Johansson G, Rizvi T, Miller S, Geiger H, et al. Nf1 mutation expands an EGFR-dependent peripheral nerve progenitor that confers neurofibroma tumorigenic potential. Cell Stem Cell. 2008;3:658-69 pubmed publisher
    ..We suggest that expansion of an EGFR-expressing early glial progenitor contributes to neurofibroma formation. ..
  13. Myers K, Davies S, Harris R, Spunt S, Smolarek T, Zimmerman S, et al. The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations. Pediatr Blood Cancer. 2012;58:462-5 pubmed publisher
  14. Matsuzaki Y, Xu Y, Ikegami M, Besnard V, Park K, Hull W, et al. Stat3 is required for cytoprotection of the respiratory epithelium during adenoviral infection. J Immunol. 2006;177:527-37 pubmed
    ..Thus, Stat3 plays a critical cytoprotective role that is required for epithelial cell survival and maintenance of alveolar structures during the early phases of pulmonary adenoviral infection. ..
  15. Oka T, Xu J, Kaiser R, Melendez J, Hambleton M, Sargent M, et al. Genetic manipulation of periostin expression reveals a role in cardiac hypertrophy and ventricular remodeling. Circ Res. 2007;101:313-21 pubmed
    ..These are the first genetic data detailing the function of Pn in the adult heart as a regulator of cardiac remodeling and hypertrophy. ..
  16. Thompson S, Marion M, Sudman M, Ryan M, Tsoras M, Howard T, et al. Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13. Arthritis Rheum. 2012;64:2781-91 pubmed publisher
    ..Genetic association results and correlated gene expression findings provide evidence of JIA association at 3q13 and suggest novel genes as plausible candidates in disease pathology. ..
  17. Nanda M, Elenburg S, Bernstein J, Assa ad A. Clinical features of pediatric hereditary angioedema. J Allergy Clin Immunol Pract. 2015;3:392-5 pubmed publisher
    ..Abdominal attacks were more common than peripheral attacks in this population. ..
  18. Steinbrecher K, Tuohy T, Heppner Goss K, Scott M, Witte D, Groden J, et al. Expression of guanylin is downregulated in mouse and human intestinal adenomas. Biochem Biophys Res Commun. 2000;273:225-30 pubmed
    ..Nonetheless, we have shown that significant loss of guanylin RNA in adenomas of mouse and human is a marker of intestinal epithelial cell transformation. ..
  19. Schulte P. Some implications of genetic biomarkers in occupational epidemiology and practice. Scand J Work Environ Health. 2004;30:71-9 pubmed
  20. Nichols W, Uniacke S, Pankratz N, Reed T, Simon D, Halter C, et al. Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease. Mov Disord. 2004;19:649-55 pubmed
    ..Taken together, these data suggest that genetic alteration at the Nurr1 locus is not a significant risk factor for the development of Parkinson's disease in our large sample of familial PD patients. ..
  21. Pal P, Xi H, Guha S, Sun G, Helfand B, Meeks J, et al. Common variants in 8q24 are associated with risk for prostate cancer and tumor aggressiveness in men of European ancestry. Prostate. 2009;69:1548-56 pubmed publisher
    ..Although our study did not confirm the allelic association of rs1447295, meta-analysis of this SNP provided support to previous reported associations. Further, this study implicates the 8q24 region with aggressive forms of PC. ..
  22. Ren Y, Jin T, Sun X, Geng T, Zhang M, Wang L, et al. PDK2 and ABCG2 genes polymorphisms are correlated with blood glucose levels and uric acid in Tibetan gout patients. Genet Mol Res. 2016;15: pubmed publisher
    ..Further studies are required to confirm these findings. ..
  23. Han X, Osuntokun B, Benight N, Loesch K, Frank S, Denson L. Signal transducer and activator of transcription 5b promotes mucosal tolerance in pediatric Crohn's disease and murine colitis. Am J Pathol. 2006;169:1999-2013 pubmed
    ..Therapeutic activation of the GH:STAT5b axis therefore represents a novel target for restoring both normal anabolic metabolism and mucosal tolerance in CD. ..
  24. Deka R, Xu L, Pal P, Toelupe P, Laumoli T, Xi H, et al. A tagging SNP in INSIG2 is associated with obesity-related phenotypes among Samoans. BMC Med Genet. 2009;10:143 pubmed publisher
    ..This study suggests the importance of comprehensive assessment of sequence variants within a gene in association studies. ..
  25. Guthridge J, Lu R, Sun H, Sun C, Wiley G, Dominguez N, et al. Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription. Am J Hum Genet. 2014;94:586-98 pubmed publisher
    ..Thus, our results demonstrated that both lupus-associated functional variants contribute to the autoimmune disease association by modulating transcription of BLK in B cells and thus potentially altering immune responses. ..
  26. Bukulmez H, Fife M, Tsoras M, Thompson S, Twine N, Woo P, et al. Tapasin gene polymorphism in systemic onset juvenile rheumatoid arthritis: a family-based case-control study. Arthritis Res Ther. 2005;7:R285-90 pubmed
    ..These results suggest that there is a weak association between systemic onset JRA and the TPSN polymorphism, possibly due to linkage disequilibrium with an as yet unknown susceptibility allele in the centromeric part of chromosome 6. ..
  27. Li R, Guan M. Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes. Mol Cell Biol. 2010;30:2147-54 pubmed publisher
    ..These findings provide new insights into the molecular mechanism of maternally inherited diseases and a step toward therapeutic interventions for these disorders...
  28. Hinton R, Michelfelder E, Marino B, Bove K, Ware S. A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation. J Pediatr. 2010;157:164-6 pubmed publisher
    ..We describe a patient with a pathogenic familial beta-myosin heavy chain mutation who was prenatally diagnosed with left ventricular hypoplasia and restrictive diastolic physiology. ..
  29. Thompson S, Sudman M, Ramos P, Marion M, Ryan M, Tsoras M, et al. The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1. Arthritis Rheum. 2010;62:3265-76 pubmed publisher
    ..General susceptibility loci for autoimmunity are shared across diseases, including JIA, suggesting the potential for common therapeutic targets and mechanisms. ..
  30. Panchanathan R, Shen H, Duan X, Rathinam V, Erickson L, Fitzgerald K, et al. Aim2 deficiency in mice suppresses the expression of the inhibitory Fcgamma receptor (FcgammaRIIB) through the induction of the IFN-inducible p202, a lupus susceptibility protein. J Immunol. 2011;186:6762-70 pubmed publisher
    ..These observations demonstrate that the expression of Aim2 protein is required to maintain the expression of the Fcgr2b gene and also predict epistatic interactions between the Ifi200 genes and the Fcgr2b gene within the Nba2 interval. ..
  31. Tomer Y, Menconi F, Davies T, Barbesino G, Rocchi R, Pinchera A, et al. Dissecting genetic heterogeneity in autoimmune thyroid diseases by subset analysis. J Autoimmun. 2007;29:69-77 pubmed
    ..In view of the significant genetic heterogeneity observed in AITD, analyzing subsets is an efficient way to resolve heterogeneity and identify novel genes...
  32. Chin D, Sakurai M, Nah G, Du L, Jacob B, Yokomizo T, et al. RUNX1 haploinsufficiency results in granulocyte colony-stimulating factor hypersensitivity. Blood Cancer J. 2016;6:e379 pubmed publisher
    ..Taken together, Runx1 haploinsufficiency appears to predispose FPD patients to MM by expanding the pool of stem/progenitor cells and blocking myeloid differentiation in response to G-CSF. ..
  33. Liu Y, Kheradmand F, Davis C, Scheurer M, Wheeler D, Tsavachidis S, et al. Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer. J Thorac Oncol. 2016;11:52-61 pubmed publisher
    ..Our results demonstrated highly disruptive risk-conferring CCDC147 and DBH mutations. ..
  34. Marigorta U, Denson L, Hyams J, Mondal K, Prince J, Walters T, et al. Transcriptional risk scores link GWAS to eQTLs and predict complications in Crohn's disease. Nat Genet. 2017;49:1517-1521 pubmed publisher
    ..The TRS approach constitutes a potential strategy for personalized medicine that enhances inference from static genotypic risk assessment. ..
  35. Prows D, McDowell S, Aronow B, Leikauf G. Genetic susceptibility to nickel-induced acute lung injury. Chemosphere. 2003;51:1139-48 pubmed
    ..Together, results from QTL and microarray analyses of nickel-induced acute lung injury survival allowed us to generate a short list of candidate genes. ..
  36. Bennett B, Garofalo R, Cron S, Hosakote Y, Atmar R, Macias C, et al. Immunopathogenesis of respiratory syncytial virus bronchiolitis. J Infect Dis. 2007;195:1532-40 pubmed
    ..Elevated levels of proinflammatory mediators IL-6, IL-8, IFN-gamma, and MIP-1beta, as well as of the regulatory cytokine IL-10, may be protective against hypoxia in bronchiolitis. ..
  37. Jacobson E, Huber A, Tomer Y. The HLA gene complex in thyroid autoimmunity: from epidemiology to etiology. J Autoimmun. 2008;30:58-62 pubmed publisher
    ..Future therapeutic interventions may attempt to exploit this new bolus of knowledge by endeavoring to block or modulate pathogenic peptide presentation by HLA-DR...
  38. Holland K, Kearney J, Glauser T, Buck G, Keddache M, Blankston J, et al. Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy. Neurosci Lett. 2008;433:65-70 pubmed publisher
    ..This observation of a potentially pathogenic mutation of SCN3A (Nav1.3) indicates that this gene should be further evaluated for its contribution to childhood epilepsy. ..
  39. Rothenberg M. Biology and treatment of eosinophilic esophagitis. Gastroenterology. 2009;137:1238-49 pubmed publisher
    ..Therefore, eosinophilic esophagitis is a disease with unique features that include chronic esophagitis, atopy, immune sensitization to oral antigens, reversibility, and familial association. ..
  40. Bahassi E, Robbins S, Yin M, Boivin G, Kuiper R, van Steeg H, et al. Mice with the CHEK2*1100delC SNP are predisposed to cancer with a strong gender bias. Proc Natl Acad Sci U S A. 2009;106:17111-6 pubmed publisher
  41. Taylor E, Hoffman M, Barefield D, Aninwene G, Abrishamchi A, Lynch T, et al. Alterations in Multi-Scale Cardiac Architecture in Association With Phosphorylation of Myosin Binding Protein-C. J Am Heart Assoc. 2016;5:e002836 pubmed publisher
    ..We conclude that phosphorylation of MYBPC3 contributes to the genesis of ventricular wall geometry, linking myofilament biology with multiscale cardiac mechanics and myoarchitecture. ..
  42. Kaufman K, Zhao J, Kelly J, Hughes T, Adler A, Sanchez E, et al. Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups. Ann Rheum Dis. 2013;72:437-44 pubmed publisher
    ..0012) and healthy controls (p=0.0064). These data suggest contributions of both IRAK1 and MECP2 to SLE susceptibility. ..
  43. Köhl J, Wills Karp M. Complement regulates inhalation tolerance at the dendritic cell/T cell interface. Mol Immunol. 2007;44:44-56 pubmed
    ..The emerging paradigm is that constitutive local generation of C5a and C5aR signaling in airway DCs controls inhalation tolerance directly as well as indirectly through sensitization of airway DCs for T(Reg)-mediated immunosuppression. ..
  44. Yadav J, Pradhan S, Kapoor R, Bangar H, Burzynski B, Prows D, et al. Multigenic control and sex bias in host susceptibility to spore-induced pulmonary anthrax in mice. Infect Immun. 2011;79:3204-15 pubmed publisher
    ..Our data provide the first evidence for a differential sex response to anthrax resistance and further highlight the unlikelihood of a single common genetic contribution for this response across strains. ..
  45. Davis R, Cheever M, Krieg E, Erway L. Quantitative measure of genetic differences in susceptibility to noise-induced hearing loss in two strains of mice. Hear Res. 1999;134:9-15 pubmed
  46. Goss K, Risinger M, Kordich J, Sanz M, Straughen J, Slovek L, et al. Enhanced tumor formation in mice heterozygous for Blm mutation. Science. 2002;297:2051-3 pubmed
    ..These observations indicate that Blm is a modifier of tumor formation in the mouse and that Blm haploinsufficiency is associated with tumor predisposition, a finding with important implications for cancer risk in humans. ..
  47. Martin L, Ramachandran V, Cripe L, Hinton R, Andelfinger G, Tabangin M, et al. Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations. Hum Genet. 2007;121:275-84 pubmed
    ..These regions likely contain genes whose mutation results in BAV and/or associated CVM indicating their important role in valvulogenesis and cardiac development. ..
  48. Zhang K, Biroschak J, Glass D, Thompson S, FINKEL T, Passo M, et al. Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms. Arthritis Rheum. 2008;58:2892-6 pubmed publisher
    ..5) and in 6 (8.2%) of 73 patients with systemic JIA and no history of macrophage activation syndrome. The data suggest an association between MUNC13-4 polymorphisms and macrophage activation syndrome in patients with systemic JIA. ..
  49. Krieg E, Butler M, Chang M, Liu T, Yesupriya A, Dowling N, et al. Lead and cognitive function in VDR genotypes in the third National Health and Nutrition Examination Survey. Neurotoxicol Teratol. 2010;32:262-72 pubmed publisher
    ..The mean blood lead concentrations of the children and adults did not vary by VDR genotype...
  50. Haycock P, Burgess S, Nounu A, Zheng J, Okoli G, Bowden J, et al. Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study. JAMA Oncol. 2017;3:636-651 pubmed publisher
    ..28-0.61]) and interstitial lung disease (OR, 0.09 [95% CI, 0.05-0.15]). It is likely that longer telomeres increase risk for several cancers but reduce risk for some non-neoplastic diseases, including cardiovascular diseases. ..
  51. McIntosh L, Marion M, Sudman M, Comeau M, Becker M, Bohnsack J, et al. Genome-Wide Association Meta-Analysis Reveals Novel Juvenile Idiopathic Arthritis Susceptibility Loci. Arthritis Rheumatol. 2017;69:2222-2232 pubmed publisher
    ..Thus, they likely represent regions that contribute to the pathology of oligoarticular JIA and RF-negative polyarticular JIA. ..
  52. Boissy R, Nordlund J. Vitiligo: current medical and scientific understanding. G Ital Dermatol Venereol. 2011;146:69-75 pubmed
    ..Headway is being made in understanding the etiology of vitiligo that should culminate in new and improved therapies. ..
  53. Frank E, Carreira V, Shanmukhappa K, Medvedovic M, Prows D, Yadav J. Genetic susceptibility to toxicologic lung responses among inbred mouse strains following exposure to carbon nanotubes and profiling of underlying gene networks. Toxicol Appl Pharmacol. 2017;327:59-70 pubmed publisher
    ..These findings demonstrate a genetic basis of susceptibility to CNT particle exposures and both inform the use of inbred mouse models and suggest the likelihood of differences in genetic susceptibility among humans. ..
  54. Giefer M, Lowe M, Werlin S, Zimmerman B, Wilschanski M, Troendle D, et al. Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations. J Pediatr. 2017;186:95-100 pubmed publisher
    ..Future studies are needed to investigate whether the disease course, response to therapy, or clinical outcomes differ relative to the timing of disease onset. ..
  55. Blanchard C, Rothenberg M. Basic pathogenesis of eosinophilic esophagitis. Gastrointest Endosc Clin N Am. 2008;18:133-43; x pubmed
  56. Namjou B, Choi C, Harley I, Alarcon Riquelme M, Kelly J, Glenn S, et al. Evaluation of TRAF6 in a large multiancestral lupus cohort. Arthritis Rheum. 2012;64:1960-9 pubmed publisher
    ..Our data indicate the presence of association of TRAF6 with SLE, consistent with the previous report of association with RA. These data provide further support for the involvement of TRAF6 in the pathogenesis of autoimmunity. ..
  57. Okunade G, Miller M, Azhar M, Andringa A, Sanford L, Doetschman T, et al. Loss of the Atp2c1 secretory pathway Ca(2+)-ATPase (SPCA1) in mice causes Golgi stress, apoptosis, and midgestational death in homozygous embryos and squamous cell tumors in adult heterozygotes. J Biol Chem. 2007;282:26517-27 pubmed
    ..These data show that loss of the Golgi Ca(2+) pump causes Golgi stress, expansion of the Golgi, increased apoptosis, and embryonic lethality and demonstrates that SPCA1 haploinsufficiency causes a genetic predisposition to cancer. ..
  58. Wu H, Kuzmenko A, Wan S, Schaffer L, Weiss A, Fisher J, et al. Surfactant proteins A and D inhibit the growth of Gram-negative bacteria by increasing membrane permeability. J Clin Invest. 2003;111:1589-602 pubmed
  59. Nooh M, Nookala S, Kansal R, Kotb M. Individual genetic variations directly effect polarization of cytokine responses to superantigens associated with streptococcal sepsis: implications for customized patient care. J Immunol. 2011;186:3156-63 pubmed publisher
  60. Ombrello M, Remmers E, Tachmazidou I, Grom A, Foell D, Haas J, et al. HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis. Proc Natl Acad Sci U S A. 2015;112:15970-5 pubmed publisher
  61. Gregory K, Hahn H, Haghighi K, Marreez Y, Odley A, Dorn G, et al. Increased particulate partitioning of PKC epsilon reverses susceptibility of phospholamban knockout hearts to ischemic injury. J Mol Cell Cardiol. 2004;36:313-8 pubmed
  62. Moreno Espinosa S, Farkas T, Jiang X. Human caliciviruses and pediatric gastroenteritis. Semin Pediatr Infect Dis. 2004;15:237-45 pubmed
    ..Major developments in this field are expected to occur in the near future. ..
  63. Bahassi E, Penner C, Robbins S, Tichy E, Feliciano E, Yin M, et al. The breast cancer susceptibility allele CHEK2*1100delC promotes genomic instability in a knock-in mouse model. Mutat Res. 2007;616:201-9 pubmed
    ..The mutant cells show signs of spontaneous genomic instability as indicated by polyploidy and an increase in DNA double strand breaks. ..
  64. Steinbrecher K, Harmel Laws E, Sitcheran R, Baldwin A. Loss of epithelial RelA results in deregulated intestinal proliferative/apoptotic homeostasis and susceptibility to inflammation. J Immunol. 2008;180:2588-99 pubmed
    ..We conclude that activation of RelA is required for homeostatic regulation of cell death and division in intestinal epithelia, as well as for protection from development of severe, acute inflammation of the intestine. ..
  65. Smith A, Bernstein D, LeMasters G, Huey N, Ericksen M, Villareal M, et al. Environmental tobacco smoke and interleukin 4 polymorphism (C-589T) gene: environment interaction increases risk of wheezing in African-American infants. J Pediatr. 2008;152:709-15, 715.e1 pubmed publisher
    ..12-104.64, P = .04) in African-American infants. In African-American infants with a family history of atopy, the interaction of ETS and IL-4 C-589T demonstrated a 10-fold risk associated with wheezing without a cold. ..
  66. Tomer G, Wetzler G, Keddache M, Denson L. Polymorphisms in the IBD5 locus are associated with Crohn disease in pediatric Ashkenazi Jewish patients. J Pediatr Gastroenterol Nutr. 2009;48:531-7 pubmed publisher
    ..Due to the tight linkage disequilibrium in the region, it is not possible to identify the causative IBD5 variant. Future functional studies will ultimately reveal the causative gene variant at this locus. ..
  67. Phillips C, Gerbing R, Alonzo T, Perentesis J, Harley I, Meshinchi S, et al. MDM2 polymorphism increases susceptibility to childhood acute myeloid leukemia: a report from the Children's Oncology Group. Pediatr Blood Cancer. 2010;55:248-53 pubmed publisher
    ..The variant SNP 309 influences susceptibility to pediatric AML, but does not impact overall response to therapy. ..
  68. Purevjav E, Varela J, Morgado M, Kearney D, Li H, Taylor M, et al. Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis. J Am Coll Cardiol. 2010;56:1493-502 pubmed publisher
    ..Nebulette is a new susceptibility gene for endocardial fibroelastosis and DCM. Different mutations in nebulette trigger specific mechanisms, converging to a common pathological cascade leading to endocardial fibroelastosis and DCM. ..
  69. Setchell K, Heubi J, Shah S, Lavine J, Suskind D, Al Edreesi M, et al. Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency. Gastroenterology. 2013;144:945-955.e6; quiz e14-5 pubmed publisher
    ..These findings indicate that patients with idiopathic neonatal cholestasis or later onset of unexplained fat-soluble vitamin deficiency should be screened for defects in bile acid conjugation. ..
  70. Zhao J, Giles B, Taylor R, Yette G, Lough K, Ng H, et al. Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA. Ann Rheum Dis. 2016;75:242-52 pubmed publisher
  71. Weiler S, Pinna F, Wolf T, Lutz T, Geldiyev A, Sticht C, et al. Induction of Chromosome Instability by Activation of Yes-Associated Protein and Forkhead Box M1 in Liver Cancer. Gastroenterology. 2017;152:2037-2051.e22 pubmed publisher
    ..Agents that disrupt this pathway might be developed as treatments for liver cancer. Transcriptome data are available in the Gene Expression Omnibus public database (accession numbers: GSE32597 and GSE73396). ..
  72. Haynes E, Kalkwarf H, Hornung R, Wenstrup R, Dietrich K, Lanphear B. Vitamin D receptor Fok1 polymorphism and blood lead concentration in children. Environ Health Perspect. 2003;111:1665-9 pubmed
    ..These data suggest that VDR -Fok1 is an effect modifier of the relationship of floor dust lead exposure and blood lead concentration. ..
  73. Bernstein D, Wang N, Campo P, Chakraborty R, Smith A, Cartier A, et al. Diisocyanate asthma and gene-environment interactions with IL4RA, CD-14, and IL-13 genes. Ann Allergy Asthma Immunol. 2006;97:800-6 pubmed
    ..4; 95% CI, 1.57-26.12; P = .01). Gene-environmental interactions may contribute to the pathogenesis of DA, and gene-gene interactions may modulate this relationship. ..
  74. Crimmins N, Martin L. Polymorphisms in adiponectin receptor genes ADIPOR1 and ADIPOR2 and insulin resistance. Obes Rev. 2007;8:419-23 pubmed
    ..In addition, these polymorphism studies are used to illustrate some of the potential pitfalls and reasons for poor reproducibility of findings in genetic association studies. ..
  75. Wang I, Meliton L, Tretiakova M, Costa R, Kalinichenko V, Kalin T. Transgenic expression of the forkhead box M1 transcription factor induces formation of lung tumors. Oncogene. 2008;27:4137-49 pubmed publisher
    ..In co-transfection experiments, Foxm1 protein-induced Cox-2 promoter activity and directly bound to the -2566/-2580 bp region of human Cox-2 promoter. ..
  76. Villano M, Huber A, Greenberg D, Golden B, Concepcion E, Tomer Y. Autoimmune thyroiditis and diabetes: dissecting the joint genetic susceptibility in a large cohort of multiplex families. J Clin Endocrinol Metab. 2009;94:1458-66 pubmed publisher
  77. Tomer Y, Huber A. The etiology of autoimmune thyroid disease: a story of genes and environment. J Autoimmun. 2009;32:231-9 pubmed publisher
    ..Recent data on the genetic predisposition to AITD lead to novel putative mechanisms by which the genetic-environmental interactions may lead to the development of thyroid autoimmunity...
  78. Karns R, Zhang G, Sun G, Rao Indugula S, Cheng H, Havas Augustin D, et al. Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia. Ann Hum Genet. 2012;76:121-7 pubmed publisher
    ..Together, these findings provide further confirmation of previously reported uric-acid-related genetic variants and highlight suggestive new loci for additional investigation. ..
  79. Woo D, Falcone G, Devan W, Brown W, Biffi A, Howard T, et al. Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage. Am J Hum Genet. 2014;94:511-21 pubmed publisher
    ..2 × 10(-10)) but not for 12q21.1 (p = 0.55; meta-analysis p = 2.6 × 10(-5)). These results demonstrate biological heterogeneity across ICH subtypes and highlight the importance of ascertaining ICH cases accordingly. ..
  80. Sun C, Molineros J, Looger L, Zhou X, Kim K, Okada Y, et al. High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry. Nat Genet. 2016;48:323-30 pubmed publisher
    ..The new loci share functional and ontological characteristics with previously reported loci and are possible drug targets for SLE therapeutics. ..
  81. Pleasant L, Ma Q, Devarajan M, Parameswaran P, Drake K, Siroky B, et al. Increased susceptibility to structural acute kidney injury in a mouse model of presymptomatic cardiomyopathy. Am J Physiol Renal Physiol. 2017;313:F699-F705 pubmed publisher
  82. Bridges J, Xu Y, Na C, Wong H, Weaver T. Adaptation and increased susceptibility to infection associated with constitutive expression of misfolded SP-C. J Cell Biol. 2006;172:395-407 pubmed
    ..The wide variability in the age of onset of ILD in patients with SFTPC mutations may be related to environmental insults that ultimately overwhelm the homeostatic cytoprotective response. ..
  83. Chen J, Xu H, Aronow B, Jegga A. Improved human disease candidate gene prioritization using mouse phenotype. BMC Bioinformatics. 2007;8:392 pubmed
    ..The incorporation of phenotype information for mouse orthologs of human genes greatly improves the human disease candidate gene analysis and prioritization. ..
  84. Waits E, Nebert D. Genetic architecture of susceptibility to PCB126-induced developmental cardiotoxicity in zebrafish. Toxicol Sci. 2011;122:466-75 pubmed publisher
    ..The identified QTLs harbor many DLC-responsive genes critical to cardiovascular development and provide insight into the genetic basis of susceptibility to AHR-mediated developmental toxicity. ..
  85. Jiang P, Jin X, Peng Y, Wang M, Liu H, Liu X, et al. The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. Hum Mol Genet. 2016;25:584-96 pubmed publisher
    ..Our findings provided new insights into the pathophysiology of LHON that were manifested by interaction between mtDNA mutation and mutated nuclear-modifier YARS2. ..
  86. Mehta P, Eapen M, Klein J, Gandham S, Elliott J, Zamzow T, et al. Interleukin-1 alpha genotype and outcome of unrelated donor haematopoietic stem cell transplantation for chronic myeloid leukaemia. Br J Haematol. 2007;137:152-7 pubmed
    ..We did not observe an association with IL-1alpha genotype in donor and/or recipient and transplant-outcome. These data suggest that the outcome of unrelated donor transplant for CML is not influenced by IL-1alpha genotype. ..
  87. Yang J, Wen X, Liu H, Folayan G, Dong X, Zhou M, et al. Examining the role of CD1d and natural killer T cells in the development of nephritis in a genetically susceptible lupus model. Arthritis Rheum. 2007;56:1219-33 pubmed
    ..This finding, together with reduced thymic iNKT cells in young BWF1 mice as compared with nonautoimmune strains, implies a regulatory role of CD1d and iNKT cells during the development of lupus. ..
  88. Huber A, Jacobson E, Jazdzewski K, Concepcion E, Tomer Y. Interleukin (IL)-23 receptor is a major susceptibility gene for Graves' ophthalmopathy: the IL-23/T-helper 17 axis extends to thyroid autoimmunity. J Clin Endocrinol Metab. 2008;93:1077-81 pubmed
    ..Variants in the IL-23R gene are strongly associated with GO. These variants may predispose to GO by changing the expression and/or function of IL-23R, thereby promoting a proinflammatory signaling cascade. ..
  89. Choubey D, Panchanathan R. Interferon-inducible Ifi200-family genes in systemic lupus erythematosus. Immunol Lett. 2008;119:32-41 pubmed publisher
    ..This review summarizes recent findings concerning the regulation and role of p200-family proteins in the development of SLE. ..
  90. Niemeyer C, Kang M, Shin D, Furlan I, Erlacher M, Bunin N, et al. Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nat Genet. 2010;42:794-800 pubmed publisher
  91. Müller T, Tschop M, Jarick I, Ehrlich S, Scherag S, Herpertz Dahlmann B, et al. Genetic variation of the ghrelin activator gene ghrelin O-acyltransferase (GOAT) is associated with anorexia nervosa. J Psychiatr Res. 2011;45:706-11 pubmed publisher
    ..031). Based on our results we conclude that genetic variation in GOAT might be implicated in the etiology of AN. ..
  92. Karns R, Zhang G, Jeran N, Havas Augustin D, Missoni S, Niu W, et al. Replication of genetic variants from genome-wide association studies with metabolic traits in an island population of the Adriatic coast of Croatia. Eur J Hum Genet. 2011;19:341-6 pubmed publisher
    ..The estimated effect sizes of these variants were larger or comparable to published studies. This is likely attributable to the homogenous genetic background of the relatively isolated study population. ..