Experts and Doctors on genetic predisposition to disease in Boston, Massachusetts, United States


Locale: Boston, Massachusetts, United States
Topic: genetic predisposition to disease

Top Publications

  1. Setiawan V, Hankinson S, Colditz G, Hunter D, De Vivo I. HSD17B1 gene polymorphisms and risk of endometrial and breast cancer. Cancer Epidemiol Biomarkers Prev. 2004;13:213-9 pubmed
    ..05) was suggested. These findings suggest that the HSD17B1 may be associated with circulating estradiol levels and interact with body mass index in postmenopausal breast cancer. ..
  2. Kantarci S, Casavant D, Prada C, Russell M, Byrne J, Haug L, et al. Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. Am J Med Genet A. 2006;140:17-23 pubmed publisher
    ..12 that was confirmed by FISH. Given prior reports of CDH in association with cytogenetic abnormalities in this region, we propose that this represents a locus for Fryns syndrome, a Fryns syndrome phenocopy, or CDH. ..
  3. Ruiz Opazo N, Tonkiss J. Genome-wide scan for quantitative trait loci influencing spatial navigation and social recognition memory in Dahl rats. Physiol Genomics. 2006;26:145-51 pubmed
    ..Thus our results could have paradigmatic value in guiding the experimental investigation of similar pathways in genetic susceptibility to this disorder, which results in profound impairments in social behavior. ..
  4. Lee Y, Raychaudhuri S, Cui J, De Vivo I, Ding B, Alfredsson L, et al. The PRL -1149 G/T polymorphism and rheumatoid arthritis susceptibility. Arthritis Rheum. 2009;60:1250-4 pubmed publisher
    ..96, P=0.001). Our findings indicate a possible association between the PRL -1149 T allele and decreased RA risk. The effect size is small but similar to ORs for other genetic polymorphisms associated with complex traits, including RA. ..
  5. Gaughan E, Cryer S, Yeap B, Jackman D, Costa D. Family history of lung cancer in never smokers with non-small-cell lung cancer and its association with tumors harboring EGFR mutations. Lung Cancer. 2013;79:193-7 pubmed publisher
    ..Further study of families with EGFR-mutated NSCLC may yield insights into the pathogenesis of this tumor type. ..
  6. Greenwood T, Lazzeroni L, Calkins M, Freedman R, Green M, Gur R, et al. Genetic assessment of additional endophenotypes from the Consortium on the Genetics of Schizophrenia Family Study. Schizophr Res. 2016;170:30-40 pubmed publisher
  7. Lizano P, Keshavan M, Tandon N, Mathew I, Mothi S, Montrose D, et al. Angiogenic and immune signatures in plasma of young relatives at familial high-risk for psychosis and first-episode patients: A preliminary study. Schizophr Res. 2016;170:115-22 pubmed publisher
    ..Our results indicate an angiogenesis and immunological dysfunction early in the course of disease, shifting the balance towards anti-angiogenesis and inflammation. ..
  8. Fan J, Ionita Laza I, McQueen M, Devlin B, Purcell S, Faraone S, et al. Linkage disequilibrium mapping of the chromosome 6q21-22.31 bipolar I disorder susceptibility locus. Am J Med Genet B Neuropsychiatr Genet. 2010;153B:29-37 pubmed publisher
    ..Further studies in larger samples are warranted to clarify which, if any, genes in the 6q region confer risk for bipolar disorder. ..
  9. Surolia I, Pirnie S, Chellappa V, Taylor K, Cariappa A, Moya J, et al. Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. Nature. 2010;466:243-7 pubmed publisher
    ..9 in subjects with type I diabetes. Functionally defective SIAE rare and polymorphic variants represent a strong genetic link to susceptibility in relatively common human autoimmune disorders. ..

More Information

Publications291 found, 100 shown here

  1. Chibnik L, Keenan B, Cui J, Liao K, Costenbader K, Plenge R, et al. Genetic risk score predicting risk of rheumatoid arthritis phenotypes and age of symptom onset. PLoS ONE. 2011;6:e24380 pubmed publisher
    ..Results suggest that seronegative and seropositive/erosive RA have different genetic architecture and support the importance of considering RA phenotypes in RA genetic studies. ..
  2. Zhou J, Cho M, Castaldi P, Hersh C, Silverman E, Laird N. Heritability of chronic obstructive pulmonary disease and related phenotypes in smokers. Am J Respir Crit Care Med. 2013;188:941-7 pubmed publisher
    ..The estimates of coheritability (genetic covariance) for pairs of the phenotypes suggest considerable overlap of causal genetic loci. ..
  3. Streit M, Lex A, Gratzl S, Partl C, Schmalstieg D, Pfister H, et al. Guided visual exploration of genomic stratifications in cancer. Nat Methods. 2014;11:884-885 pubmed publisher
  4. Penney K, Pettersson A, Shui I, Graff R, Kraft P, Lis R, et al. Association of Prostate Cancer Risk Variants with TMPRSS2:ERG Status: Evidence for Distinct Molecular Subtypes. Cancer Epidemiol Biomarkers Prev. 2016;25:745-9 pubmed publisher
    ..When examining risk factors for prostate cancer, the integration of molecular subtypes may enhance understanding of the etiology of this disease. Cancer Epidemiol Biomarkers Prev; 25(5); 745-9. ©2016 AACR. ..
  5. Pischon T, Pai J, Manson J, Hu F, Rexrode K, Hunter D, et al. Single nucleotide polymorphisms at the adiponectin locus and risk of coronary heart disease in men and women. Obesity (Silver Spring). 2007;15:2051-60 pubmed
  6. Gu F, Qureshi A, Niu T, Kraft P, Guo Q, Hunter D, et al. Interleukin and interleukin receptor gene polymorphisms and susceptibility to melanoma. Melanoma Res. 2008;18:330-5 pubmed publisher
    ..93 to 1.03. We did not find significant results for the SNPs in the other four genes. These data suggest the involvement of IL-6R in melanoma development. Further studies are needed to confirm these findings. ..
  7. Hu F. Globalization of diabetes: the role of diet, lifestyle, and genes. Diabetes Care. 2011;34:1249-57 pubmed publisher
    ..To curb the escalating diabetes epidemic, primary prevention through promotion of a healthy diet and lifestyle should be a global public policy priority. ..
  8. Rivas M, Beaudoin M, Gardet A, Stevens C, Sharma Y, Zhang C, et al. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet. 2011;43:1066-73 pubmed publisher
    ..We extend the results of successful GWAS by identifying new, rare and probably functional variants that could aid functional experiments and predictive models. ..
  9. Kensler T, Spira A, Garber J, Szabo E, Lee J, Dong Z, et al. Transforming Cancer Prevention through Precision Medicine and Immune-oncology. Cancer Prev Res (Phila). 2016;9:2-10 pubmed publisher
  10. Zaitlen N, Lindstrom S, Pasaniuc B, Cornelis M, Genovese G, Pollack S, et al. Informed conditioning on clinical covariates increases power in case-control association studies. PLoS Genet. 2012;8:e1003032 pubmed publisher
    ..This suggests that applying our method to existing and future association studies of these diseases may identify novel disease loci. ..
  11. Smith C, Tucker K, Lee Y, Lai C, Parnell L, Ordovás J. Low-density lipoprotein receptor-related protein 1 variant interacts with saturated fatty acids in Puerto Ricans. Obesity (Silver Spring). 2013;21:602-8 pubmed publisher
    ..These results may facilitate the development of a panel of genetic candidates for use in optimizing dietary recommendations for obesity management. ..
  12. North C, Christiani D. Women and lung cancer: what is new?. Semin Thorac Cardiovasc Surg. 2013;25:87-94 pubmed publisher
    ..The purpose of this review is to provide a concise summary of the literature on lung cancer as it pertains to women, with an emphasis on new areas of research and treatment options. ..
  13. Moutsianas L, Jostins L, Beecham A, Dilthey A, Xifara D, Ban M, et al. Class II HLA interactions modulate genetic risk for multiple sclerosis. Nat Genet. 2015;47:1107-1113 pubmed publisher
    ..We find no evidence for interactions between classical HLA alleles and non-HLA risk-associated variants and estimate a minimal effect of polygenic epistasis in modulating major risk alleles. ..
  14. Martin C, Carey A, Fortune S. A bug's life in the granuloma. Semin Immunopathol. 2016;38:213-20 pubmed publisher
    ..It is through better understanding of these complex interactions that we may begin to strategize novel approaches for tuberculosis treatments. ..
  15. Robles A, Traverso G, Zhang M, Roberts N, Khan M, Joseph C, et al. Whole-Exome Sequencing Analyses of Inflammatory Bowel Disease-Associated Colorectal Cancers. Gastroenterology. 2016;150:931-43 pubmed publisher
    ..These findings could be used to develop disease-specific markers for diagnosis and treatment of patients with IBD and colorectal cancer. ..
  16. 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. ..
  17. Applebaum K, Nelson H, Zens M, Stukel T, Spencer S, Karagas M. Oral contraceptives: a risk factor for squamous cell carcinoma?. J Invest Dermatol. 2009;129:2760-5 pubmed publisher
    ..03). These findings lead us to hypothesize a potential relationship between OCs and SCC risk, and that this could involve DNA repair pathways. ..
  18. Stahl E, Raychaudhuri S, Remmers E, Xie G, Eyre S, Thomson B, et al. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. Nat Genet. 2010;42:508-14 pubmed publisher
    ..An additional 11 SNPs replicated at P < 0.05, many of which are validated autoimmune risk alleles, suggesting that most represent genuine rheumatoid arthritis risk alleles. ..
  19. Berkenblit A, Cannistra S. Advances in the management of epithelial ovarian cancer. J Reprod Med. 2005;50:426-38 pubmed
  20. Wong P, Verselis S, Garber J, Schneider K, DiGianni L, Stockwell D, et al. Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome. Gastroenterology. 2006;130:73-9 pubmed
    ..LFS should be considered when a young patient presents with colorectal cancer. ..
  21. Lim S, Rogers T, Chan T, Whitney J, Kim J, Sodroski J, et al. TRIM5alpha Modulates Immunodeficiency Virus Control in Rhesus Monkeys. PLoS Pathog. 2010;6:e1000738 pubmed publisher
    ..These findings demonstrate a central role for TRIM5alpha in limiting the replication of an immunodeficiency virus infection in a primate host. ..
  22. Shulman J, De Jager P, Feany M. Parkinson's disease: genetics and pathogenesis. Annu Rev Pathol. 2011;6:193-222 pubmed publisher
  23. Kasippillai T, MacArthur D, Kirby A, Thomas B, Lambalk C, Daly M, et al. Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency. J Clin Endocrinol Metab. 2013;98:E1534-9 pubmed publisher
    ..Data demonstrate a new gene associated with dominantly inherited POI. These results highlight the importance of translation initiation factors and their regulators in ovarian function. ..
  24. Bailey J, Loomis S, Kang J, Allingham R, Gharahkhani P, Khor C, et al. Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nat Genet. 2016;48:189-94 pubmed publisher
    ..These results identify new pathways underlying POAG susceptibility and suggest new targets for preventative therapies. ..
  25. 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. ..
  26. Christophersen I, Rienstra M, Roselli C, Yin X, Geelhoed B, Barnard J, et al. Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. Nat Genet. 2017;49:946-952 pubmed publisher
    ..Our results nearly double the number of known genetic loci for atrial fibrillation, provide insights into the molecular basis of atrial fibrillation, and may facilitate the identification of new potential targets for drug discovery...
  27. Capellini T, Chen H, Cao J, Doxey A, Kiapour A, Schoor M, et al. Ancient selection for derived alleles at a GDF5 enhancer influencing human growth and osteoarthritis risk. Nat Genet. 2017;49:1202-1210 pubmed publisher
  28. Zigman J, Nakano Y, Coppari R, Balthasar N, Marcus J, Lee C, et al. Mice lacking ghrelin receptors resist the development of diet-induced obesity. J Clin Invest. 2005;115:3564-72 pubmed
    ..Moreover, our data suggest that ghrelin signaling is required for development of the full phenotype of diet-induced obesity. ..
  29. Thomas H, Ahmad T, Rajaguru C, Barnardo M, Warren B, Jewell D. Contribution of histological, serological, and genetic factors to the clinical heterogeneity of adult-onset coeliac disease. Scand J Gastroenterol. 2009;44:1076-83 pubmed publisher
    ..We found no correlation between frequency of the HLA-DQ alleles encoding HLA-DQ2.5 and CD severity. ..
  30. Thermenos H, Keshavan M, Juelich R, Molokotos E, Whitfield Gabrieli S, Brent B, et al. A review of neuroimaging studies of young relatives of individuals with schizophrenia: a developmental perspective from schizotaxia to schizophrenia. Am J Med Genet B Neuropsychiatr Genet. 2013;162B:604-35 pubmed publisher
    ..Future research should focus on the genetic and environmental contributions to these alterations, determine how early they emerge, and determine whether they can be partially or fully remediated by innovative treatments. ..
  31. Duell E, Holly E, Bracci P, Wiencke J, Kelsey K. A population-based study of the Arg399Gln polymorphism in X-ray repair cross- complementing group 1 (XRCC1) and risk of pancreatic adenocarcinoma. Cancer Res. 2002;62:4630-6 pubmed
    ..Our findings, including stronger associations and interactions among women, require replication in additional study populations. ..
  32. Kales S, Linos A, Chatzis C, Sai Y, Halla M, Nasioulas G, et al. The role of collagen IX tryptophan polymorphisms in symptomatic intervertebral disc disease in Southern European patients. Spine (Phila Pa 1976). 2004;29:1266-70 pubmed
    ..The 2 previously described Trp alleles in COL9A2 and COL9A3 are likely to be less significant susceptibility factors for intervertebral disc disease development in Southern European populations. ..
  33. Wang L, Neuberg D, Christiani D. Asbestos exposure, manganese superoxide dismutase (MnSOD) genotype, and lung cancer risk. J Occup Environ Med. 2004;46:556-64 pubmed
    ..52-3.01) and no association (OR = 1.00; 95% CI = 0.36-2.73) among the "high" AES group. We observed no statistically significant interaction between MnSOD genotype and asbestos exposure for lung cancer risk. ..
  34. Johnsen A, Plenge R, Butty V, Campbell C, Dieguez Gonzalez R, Gomez Reino J, et al. A broad analysis of IL1 polymorphism and rheumatoid arthritis. Arthritis Rheum. 2008;58:1947-57 pubmed publisher
    ..Our results provide evidence that, in the majority of cases, polymorphism in IL1A and IL1B is not a major contributor to genetic susceptibility to RA. ..
  35. Weiss L, Arking D, Daly M, Chakravarti A. A genome-wide linkage and association scan reveals novel loci for autism. Nature. 2009;461:802-8 pubmed publisher
    ..The linkage regions reported here provide targets for rare variation screening whereas the discovery of a single novel association demonstrates the action of common variants. ..
  36. Alimonti A, Carracedo A, Clohessy J, Trotman L, Nardella C, Egia A, et al. Subtle variations in Pten dose determine cancer susceptibility. Nat Genet. 2010;42:454-8 pubmed publisher
    ..We present an alterative working model for cancer development in which subtle reductions in the dose of TSGs predispose to tumorigenesis in a tissue-specific manner. ..
  37. Raychaudhuri S, Iartchouk O, Chin K, Tan P, Tai A, Ripke S, et al. A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat Genet. 2011;43:1232-6 pubmed publisher
    ..This result suggests that loss-of-function alleles at CFH are likely to drive AMD risk. This finding represents one of the first instances in which a common complex disease variant has led to the discovery of a rare penetrant mutation. ..
  38. Shindoh N, Yoda A, Yoda Y, Sullivan T, Weigert O, Lane A, et al. Next-generation cDNA screening for oncogene and resistance phenotypes. PLoS ONE. 2012;7:e49201 pubmed publisher
    ..This approach has broad applicability for identifying transcripts that confer proliferation, resistance and other phenotypes in vitro and potentially in vivo. ..
  39. Patel S, Goodloe R, De G, Kowgier M, Weng J, Buxbaum S, et al. Association of genetic loci with sleep apnea in European Americans and African-Americans: the Candidate Gene Association Resource (CARe). PLoS ONE. 2012;7:e48836 pubmed publisher
    ..The identified SNPs all lie in genes associated with inflammation suggesting inflammation may play a role in OSA pathogenesis. ..
  40. Lin H, Sinner M, Brody J, Arking D, Lunetta K, Rienstra M, et al. Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study. Heart Rhythm. 2014;11:452-7 pubmed publisher
    ..Future sequencing efforts with larger sample sizes and more comprehensive genome coverage are anticipated to identify additional AF-related variants. ..
  41. Baltimore D, Berg P, Botchan M, Carroll D, Charo R, Church G, et al. Biotechnology. A prudent path forward for genomic engineering and germline gene modification. Science. 2015;348:36-8 pubmed publisher
  42. Franke L, el Bannoudi H, Jansen D, Kok K, Trynka G, Diogo D, et al. Association analysis of copy numbers of FC-gamma receptor genes for rheumatoid arthritis and other immune-mediated phenotypes. Eur J Hum Genet. 2016;24:263-70 pubmed publisher
    ..In conclusion, our method allows determining the CNV status of the FCGR locus, we identified association of CNV in FCGR3B to RA and showed a functional relationship between CNV in the FCGR3A gene and CD16A expression. ..
  43. Broggi A, Tan Y, Granucci F, Zanoni I. IFN-λ suppresses intestinal inflammation by non-translational regulation of neutrophil function. Nat Immunol. 2017;18:1084-1093 pubmed publisher
    ..Thus, IFN-λ acted as a unique immunomodulatory agent by modifying transcriptional and non-translational neutrophil responses, which might permit a controlled development of the inflammatory process. ..
  44. Neumann C, Krause D, Carman C, Das S, Dubey D, Abraham J, et al. Essential role for the peroxiredoxin Prdx1 in erythrocyte antioxidant defence and tumour suppression. Nature. 2003;424:561-5 pubmed
    ..Our results implicate Prdx1 as an important defence against oxidants in ageing mice. ..
  45. Terry K, De Vivo I, Titus Ernstoff L, Shih M, Cramer D. Androgen receptor cytosine, adenine, guanine repeats, and haplotypes in relation to ovarian cancer risk. Cancer Res. 2005;65:5974-81 pubmed
    ..Our results suggest that possession of two long AR alleles (> or = 22 CAG repeats) may be associated with increased risk of ovarian cancer compared with women with two short AR alleles (<22 CAG repeats). ..
  46. Smoller J, Biederman J, Arbeitman L, Doyle A, Fagerness J, Perlis R, et al. Association between the 5HT1B receptor gene (HTR1B) and the inattentive subtype of ADHD. Biol Psychiatry. 2006;59:460-7 pubmed
    ..These analyses suggest that variation in the HTR1B gene may primarily affect the inattentive subtype of ADHD. ..
  47. Karlson E, Chibnik L, Cui J, Plenge R, Glass R, Maher N, et al. Associations between human leukocyte antigen, PTPN22, CTLA4 genotypes and rheumatoid arthritis phenotypes of autoantibody status, age at diagnosis and erosions in a large cohort study. Ann Rheum Dis. 2008;67:358-63 pubmed
    ..Since HLA-SE is associated with erosive phenotype in unconditional analysis, but is not significant after conditioning on CCP, this suggests that CCP is in the causal pathway for predicting erosive phenotype. ..
  48. Hersh C, Silverman E, Gascon J, Bhattacharya S, Klanderman B, Litonjua A, et al. SOX5 is a candidate gene for chronic obstructive pulmonary disease susceptibility and is necessary for lung development. Am J Respir Crit Care Med. 2011;183:1482-9 pubmed publisher
    ..Genetic variation in the transcription factor SOX5 is associated with COPD susceptibility. A mouse model suggests that the effect may be due, in part, to its effects on lung development and/or repair processes. ..
  49. Stahl E, Wegmann D, Trynka G, Gutierrez Achury J, Do R, Voight B, et al. Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. Nat Genet. 2012;44:483-9 pubmed publisher
    ..These analyses suggest that GWAS will continue to be highly productive for the discovery of additional susceptibility loci for common diseases. ..
  50. Florez J, Jablonski K, McAteer J, Franks P, Mason C, Mather K, et al. Effects of genetic variants previously associated with fasting glucose and insulin in the Diabetes Prevention Program. PLoS ONE. 2012;7:e44424 pubmed publisher
    ..These variants do not have a detectable impact on diabetes incidence or response to metformin or lifestyle modification in the Diabetes Prevention Program. ..
  51. Nambudiri V, Widlund H. Small interfering RNA. J Invest Dermatol. 2013;133:1-4 pubmed publisher
  52. Hsu Y, Liu Y, Hannan M, Maixner W, Smith S, Diatchenko L, et al. Genome-wide association meta-analyses to identify common genetic variants associated with hallux valgus in Caucasian and African Americans. J Med Genet. 2015;52:762-9 pubmed publisher
    ..The identified genetic variants imply contribution of biological pathways observed in osteoarthritis as well as new pathways, influencing skeletal development and inflammation. ..
  53. Brent B, Rosso I, Thermenos H, Holt D, Faraone S, Makris N, et al. Alterations of lateral temporal cortical gray matter and facial memory as vulnerability indicators for schizophrenia: An MRI study in youth at familial high-risk for schizophrenia. Schizophr Res. 2016;170:123-9 pubmed publisher
    ..The findings add to the growing evidence that children at risk for schizophrenia on the basis of positive family history have cortical and subcortical structural brain abnormalities well before psychotic illness occurs. ..
  54. Sadeh N, Wolf E, Logue M, Hayes J, Stone A, Griffin L, et al. EPIGENETIC VARIATION AT SKA2 PREDICTS SUICIDE PHENOTYPES AND INTERNALIZING PSYCHOPATHOLOGY. Depress Anxiety. 2016;33:308-15 pubmed publisher
  55. Graff M, Scott R, Justice A, Young K, Feitosa M, BARATA L, et al. Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. PLoS Genet. 2017;13:e1006528 pubmed publisher
  56. Stewart E, Morton C. The genetics of uterine leiomyomata: what clinicians need to know. Obstet Gynecol. 2006;107:917-21 pubmed
    ..The current role of family medical history and future implications of genes relevant to leiomyoma biology will be reviewed. ..
  57. Monach P, Merkel P. Genetics of vasculitis. Curr Opin Rheumatol. 2010;22:157-63 pubmed publisher
    ..The tools are available to more comprehensively delineate the genetic component of risk for these rare diseases. ..
  58. Shulman J, Chibnik L, Aubin C, Schneider J, Bennett D, De Jager P. Intermediate phenotypes identify divergent pathways to Alzheimer's disease. PLoS ONE. 2010;5:e11244 pubmed publisher
    ..The findings support the association of several loci with AD, and suggest how intermediate phenotypes can enhance analysis of susceptibility loci in this complex genetic disorder. ..
  59. Koenen K, Uddin M, Chang S, Aiello A, Wildman D, Goldmann E, et al. SLC6A4 methylation modifies the effect of the number of traumatic events on risk for posttraumatic stress disorder. Depress Anxiety. 2011;28:639-47 pubmed publisher
    ..This interaction was observed whether the outcome was PTSD diagnosis, symptom severity, or number of symptoms. Gene-specific methylation patterns may offer potential molecular signatures of increased risk for and resilience to PTSD. ..
  60. Seddon J, Yu Y, Miller E, Reynolds R, Tan P, Gowrisankar S, et al. Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. Nat Genet. 2013;45:1366-70 pubmed publisher
    ..These results implicate loss of C3 protein regulation and excessive alternative complement activation in AMD pathogenesis, thus informing both the direction of effect and mechanistic underpinnings of this disorder...
  61. MacArthur D, Manolio T, Dimmock D, Rehm H, Shendure J, Abecasis G, et al. Guidelines for investigating causality of sequence variants in human disease. Nature. 2014;508:469-76 pubmed publisher
    ..We propose guidelines for summarizing confidence in variant pathogenicity and highlight several areas that require further resource development. ..
  62. Roberts N, Norris A, Petersen G, Bondy M, Brand R, Gallinger S, et al. Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer. Cancer Discov. 2016;6:166-75 pubmed publisher
    ..This has significant implications for the management of patients with familial pancreatic cancer. ..
  63. Fritsche L, Igl W, Bailey J, Grassmann F, Sengupta S, Bragg Gresham J, et al. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nat Genet. 2016;48:134-43 pubmed publisher
    ..Our results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes. ..
  64. Pattaro C, Teumer A, Gorski M, Chu A, Li M, Mijatovic V, et al. Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. Nat Commun. 2016;7:10023 pubmed publisher
    ..These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways. ..
  65. Wang Z, McGlynn K, Rajpert De Meyts E, Bishop D, Chung C, Dalgaard M, et al. Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor. Nat Genet. 2017;49:1141-1147 pubmed publisher
  66. Pomerantz M, Spisak S, Jia L, Cronin A, Csabai I, Ledet E, et al. The association between germline BRCA2 variants and sensitivity to platinum-based chemotherapy among men with metastatic prostate cancer. Cancer. 2017;123:3532-3539 pubmed publisher
    ..Cancer 2017;123:3532-9. © 2017 American Cancer Society. ..
  67. Quintero Rivera F, Chan A, Donovan D, Gusella J, Ligon A. Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities. Am J Med Genet A. 2007;143A:558-63 pubmed
    ..This is the first known constitutional rearrangement of SYT14, and further systematic genetic analysis and clinical studies of DGAP128 may offer unique insights into the role of SYT14 in neurodevelopment. ..
  68. Han J, Qureshi A, Nan H, Zhang J, Song Y, Guo Q, et al. A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus. Cancer Res. 2011;71:1533-9 pubmed publisher
    ..6 × 10(-3)). Given that the T allele was shown previously to be associated with increased expression of IRF4 locus, further studies are warranted to elucidate the role of the IRF4 gene in human pigmentation and skin cancer development. ..
  69. Yu Y, Reynolds R, Fagerness J, Rosner B, Daly M, Seddon J. Association of variants in the LIPC and ABCA1 genes with intermediate and large drusen and advanced age-related macular degeneration. Invest Ophthalmol Vis Sci. 2011;52:4663-70 pubmed publisher
    ..There is little information about which genes influence drusen accumulation. Discovery of genetic variants associated with drusen may lead to prevention and treatments of AMD in its early stages...
  70. Kraft P, Pharoah P, Chanock S, Albanes D, Kolonel L, Hayes R, et al. Genetic variation in the HSD17B1 gene and risk of prostate cancer. PLoS Genet. 2005;1:e68 pubmed
    ..These results suggest that the germline variants in HSD17B1 characterized by these htSNPs do not substantially influence the risk of prostate cancer in U.S. and European whites. ..
  71. Kanasaki K, Kalluri R. The biology of preeclampsia. Kidney Int. 2009;76:831-7 pubmed publisher
  72. Dahabreh I, Kitsios G, Kent D, Trikalinos T. Paraoxonase 1 polymorphisms and ischemic stroke risk: A systematic review and meta-analysis. Genet Med. 2010;12:606-15 pubmed publisher
    ..Subgroup and sensitivity analyses showed similar results. In agreement with observations in coronary artery disease, PON1 rs662 appears to be associated with a small increase in the risk of ischemic stroke. ..
  73. Xu L, Wain J, Miller D, Thurston S, Su L, Lynch T, et al. The NAD(P)H:quinone oxidoreductase 1 gene polymorphism and lung cancer: differential susceptibility based on smoking behavior. Cancer Epidemiol Biomarkers Prev. 2001;10:303-9 pubmed
    ..Our results support the concept that differential susceptibility to lung cancer is a function of both an inheritable trait in NQO1 metabolism and individual smoking characteristics. ..
  74. Fraser P, Ding W, Mohseni M, Treadwell E, Dooley M, St Clair E, et al. Glutathione S-transferase M null homozygosity and risk of systemic lupus erythematosus associated with sun exposure: a possible gene-environment interaction for autoimmunity. J Rheumatol. 2003;30:276-82 pubmed
    ..6, 95% CI 0.3, 1.5). The interaction was statistically significant (p = 0.028). Our results suggest that GSTM1 homozygous null genotype may modify the effect of occupational sun exposure on the risk of SLE in caucasians. ..
  75. Cooper Worobey C, Fisher N, Cox D, Forman J, Curhan G. Genetic polymorphisms and the risk of accelerated renal function decline in women. PLoS ONE. 2009;4:e4787 pubmed publisher
    ..Genetic variants in the angiotensinogen, angiotensin II type 1 receptor and alpha-adducin genes may contribute to loss of renal function in the general female Caucasian population. ..
  76. Underwood P, Sun B, Williams J, Pojoga L, Chamarthi B, Lasky Su J, et al. The relationship between peroxisome proliferator-activated receptor-gamma and renin: a human genetics study. J Clin Endocrinol Metab. 2010;95:E75-9 pubmed publisher
    ..This link between PPARgamma and renin raises the possibility of a genetically based mechanism for the increased volume retention and edema in some users of PPARgamma agonists. ..
  77. Gulbahce N, Yan H, Dricot A, Padi M, Byrdsong D, Franchi R, et al. Viral perturbations of host networks reflect disease etiology. PLoS Comput Biol. 2012;8:e1002531 pubmed publisher
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