Kristin G Ardlie

Summary

Publications

  1. pmc Testing for population subdivision and association in four case-control studies
    Kristin G Ardlie
    Genomics Collaborative, 99 Erie Street, Cambridge, MA, 02139, USA
    Am J Hum Genet 71:304-11. 2002
  2. pmc Common variants at CD40 and other loci confer risk of rheumatoid arthritis
    Soumya Raychaudhuri
    Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
    Nat Genet 40:1216-23. 2008
  3. ncbi request reprint Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes
    Wendy Winckler
    Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
    Diabetes 56:685-93. 2007
  4. ncbi request reprint Collaborative design for automated DNA storage that allows for rapid, accurate, large-scale studies
    Scott Mahan
    Genomics Collaborative, Inc, a Division of SeraCare Life Sciences, Inc, Cambridge, MA 02139, USA
    Assay Drug Dev Technol 2:683-9. 2004
  5. doi request reprint Sequence analysis of mutations and translocations across breast cancer subtypes
    Shantanu Banerji
    The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
    Nature 486:405-9. 2012
  6. ncbi request reprint Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation
    Guillaume Lettre
    Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Seven Cambridge Center, Cambridge, MA 02142, USA
    Hum Genet 122:129-39. 2007
  7. ncbi request reprint Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals
    Richa Saxena
    Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, MA, USA
    Diabetes 55:2890-5. 2006
  8. pmc Initial genome sequencing and analysis of multiple myeloma
    Michael A Chapman
    The Eli and Edythe L Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02412, USA
    Nature 471:467-72. 2011
  9. ncbi request reprint Patterns of linkage disequilibrium in the human genome
    Kristin G Ardlie
    Genomics Collaborative, 99 Erie Street, Cambridge, Massachusetts 02139, USA
    Nat Rev Genet 3:299-309. 2002
  10. ncbi request reprint Estrogen receptor alpha gene variation is associated with risk of myocardial infarction in more than seven thousand men from five cohorts
    Amanda M Shearman
    Center for Cancer Research, Massachusetts Institute of Technology, Cambridge, MA 02139, USA
    Circ Res 98:590-2. 2006

Research Grants

Detail Information

Publications25

  1. pmc Testing for population subdivision and association in four case-control studies
    Kristin G Ardlie
    Genomics Collaborative, 99 Erie Street, Cambridge, MA, 02139, USA
    Am J Hum Genet 71:304-11. 2002
    ..We explore the role that extreme differences in power among studies, due to sample size and risk-allele frequency differences, may play in the replication problem...
  2. pmc Common variants at CD40 and other loci confer risk of rheumatoid arthritis
    Soumya Raychaudhuri
    Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
    Nat Genet 40:1216-23. 2008
    ..1 x 10(-7) overall), CDK6 (rs42041, P = 0.010 replication, P = 4.0 x 10(-6) overall), PRKCQ (rs4750316, P = 0.0078 replication, P = 4.4 x 10(-6) overall), and KIF5A-PIP4K2C (rs1678542, P = 0.0026 replication, P = 8.8 x 10(-8) overall)...
  3. ncbi request reprint Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes
    Wendy Winckler
    Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
    Diabetes 56:685-93. 2007
    ..We conclude that although rare variants in these six genes explain most cases of MODY, common variants in these same genes contribute very modestly, if at all, to the common form of type 2 diabetes...
  4. ncbi request reprint Collaborative design for automated DNA storage that allows for rapid, accurate, large-scale studies
    Scott Mahan
    Genomics Collaborative, Inc, a Division of SeraCare Life Sciences, Inc, Cambridge, MA 02139, USA
    Assay Drug Dev Technol 2:683-9. 2004
    ..Reported here is the approach used by Genomics Collaborative to automate its DNA processing, storage, and retrieval...
  5. doi request reprint Sequence analysis of mutations and translocations across breast cancer subtypes
    Shantanu Banerji
    The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
    Nature 486:405-9. 2012
    ..The MAGI3-AKT3 fusion leads to constitutive activation of AKT kinase, which is abolished by treatment with an ATP-competitive AKT small-molecule inhibitor...
  6. ncbi request reprint Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation
    Guillaume Lettre
    Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Seven Cambridge Center, Cambridge, MA 02142, USA
    Hum Genet 122:129-39. 2007
    ....
  7. ncbi request reprint Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals
    Richa Saxena
    Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, MA, USA
    Diabetes 55:2890-5. 2006
    ..003) but not with increased insulin resistance. These results suggest that TCF7L2 variants may act through insulin secretion to increase the risk of type 2 diabetes...
  8. pmc Initial genome sequencing and analysis of multiple myeloma
    Michael A Chapman
    The Eli and Edythe L Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02412, USA
    Nature 471:467-72. 2011
    ..These results indicate that cancer genome sequencing of large collections of samples will yield new insights into cancer not anticipated by existing knowledge...
  9. ncbi request reprint Patterns of linkage disequilibrium in the human genome
    Kristin G Ardlie
    Genomics Collaborative, 99 Erie Street, Cambridge, Massachusetts 02139, USA
    Nat Rev Genet 3:299-309. 2002
    ..In this review, we draw on empirical studies in humans and Drosophila, as well as simulation studies, to assess the current state of knowledge about patterns of LD, and consider the implications for the use of LD as a mapping tool...
  10. ncbi request reprint Estrogen receptor alpha gene variation is associated with risk of myocardial infarction in more than seven thousand men from five cohorts
    Amanda M Shearman
    Center for Cancer Research, Massachusetts Institute of Technology, Cambridge, MA 02139, USA
    Circ Res 98:590-2. 2006
    ..44; P<0.0001), after adjustment for established cardiovascular risk factors. After exclusion of younger subjects from 2 cohorts, because of age interaction, the odds ratio increased (to 1.63)...
  11. ncbi request reprint Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes
    Wendy Winckler
    Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA
    Diabetes 54:2336-42. 2005
    ....
  12. pmc PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis
    Victoria E H Carlton
    Celera Diagnostics, Alameda, CA 94502, USA
    Am J Hum Genet 77:567-81. 2005
    ..Additional analyses identified two SNPs on a single common haplotype that are associated with RA independent of R620W, suggesting that R620W and at least one additional variant in the PTPN22 gene region influence RA susceptibility...
  13. pmc A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis
    Ann B Begovich
    Celera Diagnostics, Alameda, CA 94502, USA
    Am J Hum Genet 75:330-7. 2004
    ..The minor allele of this SNP recently was implicated in type 1 diabetes, suggesting that the variant phosphatase may increase overall reactivity of the immune system and may heighten an individual carrier's risk for autoimmune disease...
  14. ncbi request reprint Differences in FMO2*1 allelic frequency between Hispanics of Puerto Rican and Mexican descent
    Sharon K Krueger
    Department of Environmental and Molecular Toxicology, Oregon State University, Corvallis, Oregon 97331, USA
    Drug Metab Dispos 32:1337-40. 2004
    ..0066) that FMO2*1 is more common among Puerto Ricans (7%) than among individuals of Mexican descent (2%). The overall occurrence of FMO2*1 among Hispanics of all origins is estimated to be between 2 and 7%...
  15. pmc A large-scale rheumatoid arthritis genetic study identifies association at chromosome 9q33.2
    Monica Chang
    Celera, Alameda, California, United States of America
    PLoS Genet 4:e1000107. 2008
    ..Lastly, in combination with the other two known genetic risk factors, HLA-DRB1 and PTPN22, the variants reported here generate more than a 45-fold RA-risk differential...
  16. pmc The inflammatory disease-associated variants in IL12B and IL23R are not associated with rheumatoid arthritis
    Monica Chang
    Celera, Alameda, CA, USA
    Arthritis Rheum 58:1877-81. 2008
  17. ncbi request reprint Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes
    Jose C Florez
    Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA
    Diabetes 53:3313-8. 2004
    ..15 [1.05-1.26], P = 0.001). Despite genotyping 9,000 people and >95% power to reproduce the estimated OR from the recent meta-analysis, we were unable to replicate the association of the IRS-1 G972R polymorphism with type 2 diabetes...
  18. ncbi request reprint Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people
    Wendy Winckler
    Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA
    Diabetes 54:886-92. 2005
    ....
  19. ncbi request reprint Association studies of BMI and type 2 diabetes in the neuropeptide Y pathway: a possible role for NPY2R as a candidate gene for type 2 diabetes in men
    Catarina D Campbell
    Program in Genomics and Division of Endocrinology, Children s Hospital, Boston, Massachusetts 021115, USA
    Diabetes 56:1460-7. 2007
    ..73 x 10(-4), OR = 1.36) and not in women. Variation in this pathway likely does not have a major influence on BMI, although small effects cannot be ruled out; NPY2R should be considered a candidate gene for type 2 diabetes in men...
  20. pmc A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes
    Michele Cargill
    Celera, Alameda, CA 94502, USA
    Am J Hum Genet 80:273-90. 2007
    ..These data, and the previous observation that administration of an antibody specific for the IL-12p40 subunit to patients with psoriasis is highly efficacious, suggest that these genes play a fundamental role in psoriasis pathogenesis...
  21. ncbi request reprint The Kr├╝ppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people
    Jose C Florez
    Simches Research Building, CPZN 6820, Diabetes Unit Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
    Diabetes 55:3620-4. 2006
    ..We conclude that the KLF11 A347S and T220M mutations do not contribute to increased risk of diabetes in European-derived populations and that the Q62R polymorphism has, at best, a minor effect on diabetes risk...
  22. ncbi request reprint Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity
    Helen N Lyon
    Division of Genetics, Children s Hospital Boston, Enders 561, 300 Longwood Ave, Boston, MA 02115, USA
    Diabetes 55:3180-4. 2006
    ..6 [0.42-0.88], P = 0.007). However, these findings are not supported by other studies. We did not observe a reproducible association between these three ENPP1 variants and BMI or type 2 diabetes...
  23. ncbi request reprint Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people
    Jose C Florez
    Department of Endocrinology, University Hospital MAS, Lund University, Malmo, Sweden
    Diabetes 54:1884-91. 2005
    ....
  24. ncbi request reprint Demonstrating stratification in a European American population
    Catarina D Campbell
    Program in Genomics and Division of Endocrinology, Children s Hospital, 300 Longwood Avenue, Boston, Massachusetts 02115, USA
    Nat Genet 37:868-72. 2005
    ..The failure of standard methods to detect this stratification indicates that new methods may be required...
  25. pmc Comprehensive association testing of common mitochondrial DNA variation in metabolic disease
    Richa Saxena
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, 02114, USA
    Am J Hum Genet 79:54-61. 2006
    ..More generally, this comprehensive association-testing framework can readily be applied to other diseases for which mitochondrial dysfunction has been implicated...

Research Grants1

  1. Osteoporosis candidate genes: In silico aided discovery
    Kristin Ardlie; Fiscal Year: 2003
    ..abstract_text> ..