Mark Lathrop Ph.D.

Recent Publications

  1. Cacciagli P, Sutera-Sardo J, Borges-Correia A, Roux JC, Dorboz I, Desvignes JP, Badens C, Delepine M, Lathrop M, Cau P, Lévy N, Girard N, Sarda P, Boespflug-Tanguy O, Villard L. Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus. Am J Hum Genet. 2013 Sep 5;93(3):579-86.
  2. Terao C, Bayoumi N, McKenzie CA, Zelenika D, Muro S, Mishima M; The Nagahama Cohort Research Group, Connell JM, Vickers MA, Lathrop GM, Farrall M, Matsuda F, Keavney BD. Quantitative Variation in Plasma Angiotensin-I Converting Enzyme Activity Shows Allelic Heterogeneity in the ABO Blood Group Locus. Ann Hum Genet. 2013 Aug 13
  3. Mamasoula C, Prentice RR, Pierscionek T, Pangilinan F, Mills JL, Druschel C, Pass K, Russell MW, Hall D, Töpf A, Brown DL, Zelenika D, Bentham J, Cosgrove C, Bhattacharya S, Riveron JG, Setchfield K, Brook JD, Bu'Lock FA, Thornborough C, Rahman TJ, Doza JP, Tan HL, O'Sullivan J, Stuart AG, Blue G, Winlaw D, Postma AV, Mulder BJ, Zwinderman AH, van Engelen K, Moorman AF, Rauch A, Gewillig M, Breckpot J, Devriendt K, Lathrop GM, Farrall M, Goodship JA, Cordell HJ, Brody LC, Keavney BD. Association Between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7697 Cases and 13 125 Controls. Circ Cardiovasc Genet. 2013 Aug;6(4):347-53.
  4. Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Lévy N, Ledbetter DH, Dobyns WB, Villard L. AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures. Eur J Hum Genet. 2013 Jun 12.
  5. Radner FP, Marrakchi S, Kirchmeier P, Kim GJ, Ribierre F, Kamoun B, Abid L, Leipoldt M, Turki H, Schempp W, Heilig R, Lathrop M, Fischer J. Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans. PLoS Genet. 2013 Jun;9(6):e1003536.
  6. International Multiple Sclerosis Genetics Consortium. Network-Based Multiple Sclerosis Pathway Analysis with GWAS Data from 15,000 Cases and 30,000 Controls. Am J Hum Genet. 2013 May 22. pii: S0002-9297(13)00180-8.
  7. Cordell HJ, Bentham J, Topf A, Zelenika D, Heath S, Mamasoula C, Cosgrove C, Blue G, Granados-Riveron J, Setchfield K, Thornborough C, Breckpot J, Soemedi R, Martin R, Rahman TJ, Hall D, van Engelen K, Moorman AF, Zwinderman AH, Barnett P, Koopmann TT, Adriaens ME, Varro A, George AL Jr, dos Remedios C, Bishopric NH, Bezzina CR, O'Sullivan J, Gewillig M, Bu'Lock FA, Winlaw D, Bhattacharya S, Devriendt K, Brook JD, Mulder BJ, Mital S, Postma AV, Lathrop GM, Farrall M, Goodship JA, Keavney BD. Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nat Genet. 2013 Jul;45(7):822-4
  8. Rat Genome Sequencing and Mapping Consortium, Baud A, Hermsen R, Guryev V, Stridh P, Graham D, McBride MW, Foroud T, Calderari S, Diez M, Ockinger J, Beyeen AD, Gillett A, Abdelmagid N, Guerreiro-Cacais AO, Jagodic M, Tuncel J, Norin U, Beattie E, Huynh N, Miller WH, Koller DL, Alam I, Falak S, Osborne-Pellegrin M, Martinez-Membrives E, Canete T, Blazquez G, Vicens-Costa E, Mont-Cardona C, Diaz-Moran S, Tobena A, Hummel O, Zelenika D, Saar K, Patone G, Bauerfeind A, Bihoreau MT, Heinig M, Lee YA, Rintisch C, Schulz H, Wheeler DA, Worley KC, Muzny DM, Gibbs RA, Lathrop M, Lansu N, Toonen P, Ruzius FP, de Bruijn E, Hauser H, Adams DJ, Keane T, Atanur SS, Aitman TJ, Flicek P, Malinauskas T, Jones EY, Ekman D, Lopez-Aumatell R, Dominiczak AF, Johannesson M, Holmdahl R, Olsson T, Gauguier D, Hubner N, Fernandez-Teruel A, Cuppen E, Mott R, Flint J. Combined sequence-based and genetic mapping analysis of complex traits in outbred rats. Nat Genet. 2013 Jul;45(7):767-75.
  9. Prieur X, Dollet L, Takahashi M, Nemani M, Pillot B, Le May C, Mounier C, Takigawa-Imamura H, Zelenika D, Matsuda F, Fève B, Capeau J, Lathrop M, Costet P, Cariou B, Magré J. Thiazolidinediones partially reverse the metabolic disturbances observed in Bscl2/seipin-deficient mice. Inserm UMR_S1087, L'Institut du Thorax, IRS-UN, Nantes Cedex 1, France. Xavier.Prieur@univ-nantes.fr
  10. Tang W, Teichert M, Chasman DI, Heit JA, Morange PE, Li G, Pankratz N, Leebeek FW, Paré G, de Andrade M, Tzourio C, Psaty BM, Basu S, Ruiter R, Rose L, Armasu SM, Lumley T, Heckbert SR, Uitterlinden AG, Lathrop M, Rice KM, Cushman M, Hofman A, Lambert JC, Glazer NL, Pankow JS, Witteman JC, Amouyel P, Bis JC, Bovill EG, Kong X, Tracy RP, Boerwinkle E, Rotter JI, Trégouët DA, Loth DW, Stricker BH, Ridker PM, Folsom AR, Smith NL. A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. Genet Epidemiol. 2013 Jul;37(5):512-21.
  11. Athanasiadis G, Sabater-Lleal M, Buil A, Souto JC, Borrell M, Lathrop M, Watkins H, Almasy L, Hamsten A, Soria JM. Genetic determinants of plasma β₂-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain. J Thromb Haemost. 2013 Mar;11(3):521-8.
  12. Esko T, Mezzavilla M, Nelis M, Borel C, Debniak T, Jakkula E, Julia A, Karachanak S, Khrunin A, Kisfali P, Krulisova V, Aušrelé Kučinskiené Z, Rehnström K, Traglia M, Nikitina-Zake L, Zimprich F, Antonarakis SE, Estivill X, Glavač D, Gut I, Klovins J, Krawczak M, Kučinskas V, Lathrop M, Macek M, Marsal S, Meitinger T, Melegh B, Limborska S, Lubinski J, Paolotie A, Schreiber S, Toncheva D, Toniolo D, Wichmann HE, Zimprich A, Metspalu M, Gasparini P, Metspalu A, D'Adamo P. Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity. Eur J Hum Genet. 2013 Jun;21(6):659-65.
  13. Stacey D, Bilbao A, Maroteaux M, Jia T, Easton AC, Longueville S, Nymberg C, Banaschewski T, Barker GJ, Büchel C, Carvalho F, Conrod PJ, Desrivières S, Fauth-Bühler M, Fernandez-Medarde A, Flor H, Gallinat J, Garavan H, Bokde AL, Heinz A, Ittermann B, Lathrop M, Lawrence C, Loth E, Lourdusamy A, Mann KF, Martinot JL, Nees F, Palkovits M, Paus T, Pausova Z, Rietschel M, Ruggeri B, Santos E, Smolka MN, Staehlin O, Jarvelin MR, Elliott P, Sommer WH, Mameli M, Müller CP, Spanagel R, Girault JA, Schumann G; IMAGEN Consortium. RASGRF2 regulates alcohol-induced reinforcement by influencing mesolimbic dopamine neuron activity and dopamine release. Proc Natl Acad Sci U S A. 2012 Dec 18;109(51):21128-33.
  14. Melka MG, Gillis J, Bernard M, Abrahamowicz M, Chakravarty MM, Leonard GT, Perron M, Richer L, Veillette S, Banaschewski T, Barker GJ, Büchel C, Conrod P, Flor H, Heinz A, Garavan H, Brühl R, Mann K, Artiges E, Lourdusamy A, Lathrop M, Loth E, Schwartz Y, Frouin V, Rietschel M, Smolka MN, Ströhle A, Gallinat J, Struve M, Lattka E, Waldenberger M, Schumann G, Pavlidis P, Gaudet D, Paus T, Pausova Z. FTO, obesity and the adolescent brain. Hum Mol Genet. 2013 Mar 1;22(5):1050-8.
  15. Henrion M, Frampton M, Scelo G, Purdue M, Ye Y, Broderick P, Ritchie A, Kaplan R, Meade A, McKay J, Johansson M, Lathrop M, Larkin J, Rothman N, Wang Z, Chow WH, Stevens VL, Ryan Diver W, Gapstur SM, Albanes D, Virtamo J, Wu X, Brennan P, Chanock S, Eisen T, Houlston RS. Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer. Hum Mol Genet. 2013 Feb 15;22(4):825-31.
  16. Fredebohm J, Boettcher M, Eisen C, Gaida MM, Heller A, Keleg S, Tost J, Greulich-Bode KM, Hotz-Wagenblatt A, Lathrop M, Giese NA, Hoheisel JD. Establishment and characterization of a highly tumourigenic and cancer stem cell enriched pancreatic cancer cell line as a well defined model system. PLoS One. 2012;7(11):e48503.
  17. Alvarez-Madrazo S, Mackenzie SM, Davies E, Fraser R, Lee WK, Brown M, Caulfield MJ, Dominiczak AF, Farrall M, Lathrop M, Hedner T, Melander O, Munroe PB, Samani N, Stewart PM, Wahlstrand B, Webster J, Palmer CN, Padmanabhan S, Connell JM. Common polymorphisms in the CYP11B1 and CYP11B2 genes: evidence for a digenic influence on hypertension. Hypertension. 2013 Jan;61(1):232-9.
  18. Hopewell JC, Parish S, Offer A, Link E, Clarke R, Lathrop M, Armitage J, Collins R; MRC/BHF Heart Protection Study Collaborative Group. Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study. Eur Heart J. 2013 Apr;34(13):982-92.
  19. Torre S, van Bruggen R, Kennedy JM, Berghout J, Bongfen SE, Langat P, Lathrop M, Vidal SM, Gros P. Susceptibility to lethal cerebral malaria is regulated by epistatic interaction between chromosome 4 (Berr6) and chromosome 1 (Berr7) loci in mice. Genes Immun. 2013 Oct;14(7):470.
  20. Liang, L. et al. A cross-platform analysis of 14,177 expression quantitative trait loci derived from lymphoblastoid cell lines. Genome Res (2013).
  21. Henrion, M. et al. Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer. Human Molecular Genetics 22, 825-831 (2013).
  22. Beekman, M. et al. Genome-wide linkage analysis for human longevity: Genetics of Healthy Aging Study. Aging Cell (2013).
  23. Athanasiadis, G. et al. Genetic determinants of plasma beta(2) -Glycoprotein I levels: A genome-wide association study in extended pedigrees from Spain. J Thromb Haemost (2013).
  24. Alvarez-Madrazo, S. et al. Common polymorphisms in the CYP11B1 and CYP11B2 genes: evidence for a digenic influence on hypertension. Hypertension 61, 232-9 (2013).
  25. Melka, M.G. et al. FTO, obesity and the adolescent brain. Hum Mol Genet 22, 1050-8 (2013).
  26. Ghoussaini, M. et al. Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet 44, 312-8 (2012).
  27. Germain, M. et al. Caution in interpreting results from imputation analysis when linkage disequilibrium extends over a large distance: a case study on venous thrombosis. PLoS One 7, e38538 (2012).
  28. Garke, C. et al. Comparison of SNPs and microsatellites for assessing the genetic structure of chicken populations. Anim Genet 43, 419-28 (2012).
  29. Fradin, D. et al. Association of the CpG methylation pattern of the proximal insulin gene promoter with type 1 diabetes. PLoS One 7, e36278 (2012).
  30. Durkin, K. et al. Serial translocation by means of circular intermediates underlies colour sidedness in cattle. Nature 482, 81-4 (2012).
  31. Dizier, M.H. et al. The ANO3/MUC15 locus is associated with eczema in families ascertained through asthma. Journal of Allergy and Clinical Immunology 129, 1547-+ (2012).
  32. Dizier, M.H. et al. Genetic Heterogeneity According to Age at Onset in Bipolar Disorder: A Combined Positional Cloning and Candidate Gene Approach. American Journal of Medical Genetics Part B-Neuropsychiatric Genetics 159B, 653-659 (2012).
  33. Clarke, R. et al. Homocysteine and Coronary Heart Disease: Meta-analysis of MTHFR Case-Control Studies, Avoiding Publication Bias. Plos Medicine 9(2012).
  34. Cipriani, V. et al. Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXBFKBPLNOTCH4 region of chromosome 6p21.3. Human Molecular Genetics 21, 4138-4150 (2012).
  35. Bouzigon, E. et al. Associations between nitric oxide synthase genes and exhaled NO-related phenotypes according to asthma status. PLoS One 7, e36672 (2012).
  36. Bongfen, S.E. et al. An N-Ethyl-N-Nitrosourea (ENU)-Induced Dominant Negative Mutation in the JAK3 Kinase Protects against Cerebral Malaria. Plos One 7(2012).
  37. Billings, L.K. et al. Impact of Common Variation in Bone-Related Genes on Type 2 Diabetes and Related Traits. Diabetes 61, 2176-2186 (2012).
  38. Whelan, R. et al. Adolescent impulsivity phenotypes characterized by distinct brain networks. Nature Neuroscience 15, 920-U153 (2012).
  39. Urayama, K.Y. et al. Genome-Wide Association Study of Classical Hodgkin Lymphoma and Epstein-Barr Virus Status-Defined Subgroups. Journal of the National Cancer Institute 104, 240-253 (2012).
  40. Timofeeva, M.N. et al. Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls. Hum Mol Genet 21, 4980-95 (2012).
  41. Taal, H.R. et al. Common variants at 12q15 and 12q24 are associated with infant head circumference. Nature Genetics 44, 532-+ (2012).
  42. Sofat, R. et al. Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. International Journal of Epidemiology 41, 250-262 (2012).
  43. Soemedi, R. et al. Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease. American Journal of Human Genetics 91, 489-501 (2012).
  44. Smit, L.A.M. et al. Transient receptor potential genes, smoking, occupational exposures and cough in adults. Respiratory Research 13(2012).
  45. Siddiq, A. et al. A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Human Molecular Genetics 21, 5373-5384 (2012).
  46. Sato, D. et al. SHANK1 Deletions in Males with Autism Spectrum Disorder. American Journal of Human Genetics 90, 879-887 (2012).
  47. Rajaraman, P. et al. Genome-wide association study of glioma and meta-analysis. Human Genetics 131, 1877-1888 (2012).
  48. Pinel, P. et al. Genetic Variants of FOXP2 and KIAA0319/TTRAP/THEM2 Locus Are Associated with Altered Brain Activation in Distinct Language-Related Regions. Journal of Neuroscience 32, 817-825 (2012).
  49. Palmer, N.D. et al. A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One 7, e29202 (2012).
  50. Oudot-Mellakh, T. et al. Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. British Journal of Haematology 157, 230-239 (2012).
  51. Okada, Y. et al. Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. Nature Genetics 44, 511-+ (2012).
  52. Manning, A.K. et al. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nature Genetics 44, 659-U81 (2012).
  53. Lopez, S. et al. Sex-Specific Regulation of Mitochondrial DNA Levels: Genome-Wide Linkage Analysis to Identify Quantitative Trait Loci. Plos One 7(2012).
  54. Leblond, C.S. et al. Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders. Plos Genetics 8(2012).
  55. Lambert, J.C. et al. Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease. Mol Psychiatry (2012).
  56. Kazma, R. et al. Lung cancer and DNA repair genes: multilevel association analysis from the International Lung Cancer Consortium. Carcinogenesis 33, 1059-1064 (2012).
  57. Johansson, M. et al. Using Prior Information from the Medical Literature in GWAS of Oral Cancer Identifies Novel Susceptibility Variant on Chromosome 4-the AdAPT Method. Plos One 7(2012).
  58. Imboden, M. et al. Genome-wide association study of lung function decline in adults with and without asthma. J Allergy Clin Immunol 129, 1218-28 (2012).
  59. Hopewell, J.C. et al. Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study. Eur Heart J (2012).
  60. Hager, J. et al. Genome-wide association study in a Lebanese cohort confirms PHACTR1 as a major determinant of coronary artery stenosis. PLoS One 7, e38663 (2012).
  61. Grall, A. et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nature Genetics 44, 140-147 (2012).
  62. Wu, X. et al. A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23. Hum Mol Genet 21, 456-62 (2012).
  63. Tsoi, L.C. et al. Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nature Genetics 44, 1341-1348 (2012).
  64. Stacey, D. et al. RASGRF2 regulates alcohol-induced reinforcement by influencing mesolimbic dopamine neuron activity and dopamine release. Proc Natl Acad Sci U S A 109, 21128-33 (2012).
  65. Soemedi, R. et al. Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Hum Mol Genet 21, 1513-20 (2012).
  66. Priebe, L. et al. Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder. Mol Psychiatry 17, 421-32 (2012).
  67. Nees, F. et al. Determinants of Early Alcohol Use In Healthy Adolescents: The Differential Contribution of Neuroimaging and Psychological Factors. Neuropsychopharmacology 37, 986-995 (2012).
  68. Meziani, R. et al. A trans-ethnic genetic study of rheumatoid arthritis identified FCGR2A as a candidate common risk factor in Japanese and European populations. Modern Rheumatology 22, 52-58 (2012).
  69. Jostins, L. et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 491, 119-124 (2012).
  70. Huang, J. et al. MeQA: a pipeline for MeDIP-seq data quality assessment and analysis. Bioinformatics 28, 587-588 (2012).
  71. Eyre, S. et al. High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nature Genetics 44, 1336-1340 (2012).
  72. Esko, T. et al. Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity. Eur J Hum Genet (2012).
  73. Carriere, L. et al. Genomic binding of Pol III transcription machinery and relationship with TFIIS transcription factor distribution in mouse embryonic stem cells. Nucleic Acids Res 40, 270-83 (2012).
  74. Angelakopoulou, A. et al. Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration. Eur Heart J 33, 393-407 (2012).
  75. Peters, J. et al. Lower ventral striatal activation during reward anticipation in adolescent smokers. Am J Psychiatry 168, 540-9 (2011).
  76. Paternoster, L. et al. Genome-Wide Population-Based Association Study of Extremely Overweight Young Adults - The GOYA Study. Plos One 6(2011).
  77. Ott, J., Kamatani, Y. & Lathrop, M. Family-based designs for genome-wide association studies. Nat Rev Genet 12, 465-74 (2011).
  78. Nebel, A. et al. A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals. Mechanisms of Ageing and Development 132, 324-330 (2011).
  79. Morange, P.E. et al. KNG1 Ile581Thr and susceptibility to venous thrombosis. Blood 117, 3692-4 (2011).
  80. Momozawa, Y. et al. Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease. Nat Genet 43, 43-7 (2011).
  81. Merveille, A.C. et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet 43, 72-8 (2011).
  82. McKay, J.D. et al. A Genome-Wide Association Study of Upper Aerodigestive Tract Cancers Conducted within the INHANCE Consortium. Plos Genetics 7(2011).
  83. Lanktree, M.B. et al. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. Am J Hum Genet 88, 6-18 (2011).
  84. Lambert, J.C. et al. Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations. Neurobiol Aging 32, 756 e11-5 (2011).
  85. Johnson, T. et al. Blood pressure loci identified with a gene-centric array. Am J Hum Genet 89, 688-700 (2011).
  86. International Multiple Sclerosis Genetics, C. et al. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature 476, 214-9 (2011).
  87. Hopewell, J.C. et al. No Impact of KIF6 Genotype on Vascular Risk and Statin Response Among 18,348 Randomized Patients in the Heart Protection Study. Journal of the American College of Cardiology 57, 2000-2007 (2011).
  88. Hopewell, J.C. et al. Lipoprotein(a) genetic variants associated with coronary and peripheral vascular disease but not with stroke risk in the Heart Protection Study. Circ Cardiovasc Genet 4, 68-73 (2011).
  89. Hollingworth, P. et al. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nature Genetics 43, 429-+ (2011).
  90. Germain, M. et al. Genetics of venous thrombosis: insights from a new genome wide association study. PLoS One 6, e25581 (2011).
  91. Geller, F. et al. Genome-wide association study identifies four loci associated with eruption of permanent teeth. PLoS Genet 7, e1002275 (2011).
  92. Gandotra, S. et al. Perilipin deficiency and autosomal dominant partial lipodystrophy. N Engl J Med 364, 740-8 (2011).
  93. Fletcher, O. et al. Novel Breast Cancer Susceptibility Locus at 9q31.2: Results of a Genome-Wide Association Study. Journal of the National Cancer Institute 103, 425-435 (2011).
  94. Ege, M.J. et al. Gene-environment interaction for childhood asthma and exposure to farming in Central Europe. J Allergy Clin Immunol 127, 138-44, 144 e1-4 (2011).
  95. Dong, L. et al. Effects of the circadian rhythm gene period 1 (per1) on psychosocial stress-induced alcohol drinking. Am J Psychiatry 168, 1090-8 (2011).
  96. Desrivieres, S. et al. Sex-specific role for adenylyl cyclase type 7 in alcohol dependence. Biol Psychiatry 69, 1100-8 (2011).
  97. Consortium, I.K.C. Large-scale gene-centric analysis identifies novel variants for coronary artery disease. PLoS Genet 7, e1002260 (2011).
  98. Clarke, T.K. et al. KCNJ6 is associated with adult alcohol dependence and involved in gene x early life stress interactions in adolescent alcohol drinking. Neuropsychopharmacology 36, 1142-8 (2011).
  99. Cichon, S. et al. Genome-wide Association Study Identifies Genetic Variation in Neurocan as a Susceptibility Factor for Bipolar Disorder. American Journal of Human Genetics 88, 372-381 (2011).
  100. Chen, D. et al. Genome-wide association study of HPV seropositivity. Hum Mol Genet 20, 4714-23 (2011).
  101. Chambers, J.C. et al. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat Genet 43, 1131-8 (2011).
  102. Bourneuf, E. et al. Genetic and functional evaluation of MITF as a candidate gene for cutaneous melanoma predisposition in pigs. Mammalian Genome 22, 602-612 (2011).
  103. Bonnet, C. et al. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet Journal of Rare Diseases 6(2011).
  104. Bertolotto, C. et al. A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature 480, 94-8 (2011).
  105. Barrett, J.H. et al. Genome-wide association study identifies three new melanoma susceptibility loci. Nat Genet 43, 1108-13 (2011).
  106. Athanasiadis, G. et al. A genome-wide association study of the Protein C anticoagulant pathway. PLoS One 6, e29168 (2011).
  107. Antoni, G. et al. Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels. BMC Med Genet 12, 102 (2011).
  108. Zhang, M. et al. Integrating pathway analysis and genetics of gene expression for genome-wide association study of basal cell carcinoma. Hum Genet 131, 615-23 (2012).
  109. Wain, L.V. et al. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet 43, 1005-11 (2011).
  110. Uher, R. et al. Genome-wide pharmacogenetics of antidepressant response in the GENDEP project. Am J Psychiatry 167, 555-64 (2010).
  111. Travis, R.C. et al. Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study. Lancet 375, 2143-51 (2010).
  112. Terao, C. et al. The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population. Human Molecular Genetics 20, 2680-2685 (2011).
  113. Terao, C. et al. Myelin Basic Protein as a Novel Genetic Risk Factor in Rheumatoid Arthritis-A Genome-Wide Study Combined with Immunological Analyses. Plos One 6(2011).
  114. Takahashi, M. et al. The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl. Hum Mol Genet 19, 2516-23 (2010).
  115. Smit, L.A. et al. Mold allergen sensitization in adult asthma according to integrin beta3 polymorphisms and Toll-like receptor 2/+596 genotype. J Allergy Clin Immunol 128, 185-191 e7 (2011).
  116. Simon, M. et al. Genetic risk profiles identify different molecular etiologies for glioma. Clin Cancer Res 16, 5252-9 (2010).
  117. Seshadri, S. et al. Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA 303, 1832-40 (2010).
  118. Schneider, S. et al. Risk taking and the adolescent reward system: a potential common link to substance abuse. Am J Psychiatry 169, 39-46 (2012).
  119. Schaffer, A.A., Lemire, M., Ott, J., Lathrop, G.M. & Weeks, D.E. Coordinated conditional simulation with SLINK and SUP of many markers linked or associated to a trait in large pedigrees. Hum Hered 71, 126-34 (2011).
  120. Sanson, M. et al. Chromosome 7p11.2 (EGFR) variation influences glioma risk. Hum Mol Genet 20, 2897-904 (2011).
  121. Saint-Pierre, A. et al. Bivariate association analysis in selected samples: application to a GWAS of two bone mineral density phenotypes in males with high or low BMD. Eur J Hum Genet 19, 710-6 (2011).
  122. Reeves, G.K. et al. Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci. JAMA 304, 426-34 (2010).
  123. Ratanajaraya, C. et al. A polymorphism of the POLG2 gene is genetically associated with the invasiveness of urinary bladder cancer in Japanese males. J Hum Genet 56, 572-6 (2011).
  124. Purdue, M.P. et al. Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. Nat Genet 43, 60-5 (2011).
  125. Psychiatric, G.C.B.D.W.G. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nat Genet 43, 977-83 (2011).