Cited by 345Genetic Associations and EpidemiologyForensic and Genetic ResearchGenetic Mapping and Diversity in Plants and Animals

The DOI matches its Crossref record; 123 of the 123 references it cites were found in a registry or an index.

Definition And Clinical Importance Of Haplotypes.

Crawford, Dana C., Nickerson, Deborah A.·2005·Annual Review of Medicine

DOI 10.1146/annurev.med.56.082103.104540

Open this paper in CoChat — free account

Abstract

Advances in genotyping and sequencing technologies, coupled with the development of sophisticated statistical methods, have afforded investigators novel opportunities to define the role of sequence variation in the development of common human diseases. At the forefront of these investigations is the use of dense maps of single-nucleotide polymorphisms (SNPs) and the haplotypes derived from these polymorphisms. Here we review basic concepts of high-density genetic maps of SNPs and haplotypes and how they are typically generated and used in human genetic research. We also provide useful examples and tools available for researchers interested in incorporating haplotypes into their studies. Finally, we discuss the latest concepts for the analysis of haplotypes related to human disease, including haplotype blocks, the International HapMap Project, and the future directions of these resources.

Integrity signals

Registry

Crossref · 10.1146/annurev.med.56.082103.104540

Cites

123 of 123 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Haploview: analysis and visualization of LD and haplotype maps
Barrett, J. C., Fry, B., Maller, J., & Daly, M. J. (2004) · Bioinformatics · doi:10.1093/bioinformatics/bth457 · Cited by 14,563
The sequence of the human genome
Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) · Science · doi:10.1126/science.1058040 · Cited by 13,909
Database resources of the National Center for Biotechnology Information: update
Wheeler, D. L. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkh073 · Cited by 10,695
A New Statistical Method for Haplotype Reconstruction from Population Data
Stephens, M., Smith, N. J. C., & Donnelly, P. (2001) · The American Journal of Human Genetics · doi:10.1086/319501 · Cited by 7,512
dbSNP: the NCBI database of genetic variation
Sherry, S. T. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.1.308 · Cited by 7,502
SIFT: predicting amino acid changes that affect protein function
Ng, P. C. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg509 · Cited by 6,601
The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057
The Structure of Haplotype Blocks in the Human Genome
Gabriel, S. B., Schaffner, S. F., Nguyen, H., Moore, J. M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M., et al. (2002) · Science · doi:10.1126/science.1069424 · Cited by 5,863
The Future of Genetic Studies of Complex Human Diseases
Risch, N., & Merikangas, K. (1996) · Science · doi:10.1126/science.273.5281.1516 · Cited by 5,355
A Comparison of Bayesian Methods for Haplotype Reconstruction from Population Genotype Data
Stephens, M., & Donnelly, P. (2003) · The American Journal of Human Genetics · doi:10.1086/379378 · Cited by 3,516

Show all 123 references

Research works printed but not linked: 6

Betticher DC, 1995, Oncogene, 11, 1005
Clark AG, 1990, Mol. Biol. Evol., 7, 111
Excoffier L, 1995, Mol. Biol. Evol., 12, 921
Long JC, 1995, Am. J. Hum. Genet., 56, 799
McCluskey J, 1999, Rev. Immunogenet., 1, 3
Barrett JC, 2004, Bioinformatics

Sorted by citations

Emerging technologies in DNA sequencingPreprint
Metzker, M. L. (2005) · Genome Research · doi:10.1101/gr.3770505 · Cited by 524
Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition
Lerer, E., Levi, S., Salomon, S., Darvasi, A., Yirmiya, N., & Ebstein, R. P. (2008) · Molecular Psychiatry · doi:10.1038/sj.mp.4002087 · Cited by 349
Single nucleotide polymorphisms in the human interleukin-1B gene affect transcription according to haplotype context
Chen, H., Wilkins, L. M., Aziz, N., Cannings, C., Wyllie, D. H., Bingle, C. D., Rogus, J. J., Beck, J. D., Offenbacher, S., Cork, M. J., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddi469 · Cited by 309
Whole-genome haplotype reconstruction using proximity-ligation and shotgun sequencing
Selvaraj, S., Dixon, J. R., Bansal, V., & Ren, B. (2013) · Nature Biotechnology · doi:10.1038/nbt.2728 · Cited by 294
The oxytocin receptor (OXTR) contributes to prosocial fund allocations in the dictator game and the social value orientations task
Israel, S., Lerer, E., Shalev, I., Uzefovsky, F., Riebold, M., Laiba, E., Bachner-Melman, R., Maril, A., Bornstein, G., Knafo, A., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0005535 · Cited by 278
“Since haplotypes are often more informative than individual SNPs [36], haplotype analysis was carried out.”
Background
Cationic Conjugated Polymers for Optical Detection of DNA Methylation, Lesions, and Single Nucleotide Polymorphisms
Duan, X., Liu, L., Feng, F., & Wang, S. (2009) · Accounts of Chemical Research · doi:10.1021/ar9001813 · Cited by 273
Genome-Wide Association
Taylor, K. D., Norris, J. M., & Rotter, J. I. (2007) · Diabetes · doi:10.2337/db07-1324 · Cited by 308
Resilience in Development: Progress and Transformation
Masten, A. S., & Cicchetti, D. (2016) · Developmental Psychopathology · doi:10.1002/9781119125556.devpsy406 · Cited by 416
Endothelial nitric oxide synthase: From biochemistry and gene structure to clinical implications of NOS3 polymorphisms
Oliveira‐Paula, G. H., Lacchini, R., & Tanus-Santos, J. E. (2015) · Gene · doi:10.1016/j.gene.2015.09.061 · Cited by 175
Aldehyde dehydrogenase variation enhances effect of pesticides associated with Parkinson disease
Fitzmaurice, A. G., Rhodes, S. L., Cockburn, M., Ritz, B. R., & Bronstein, J. M. (2014) · Neurology · doi:10.1212/wnl.0000000000000083 · Cited by 157
Realizing the Promise of Genomics in Biomedical Research
Guttmacher, A. E., & Collins, F. S. (2005) · JAMA · doi:10.1001/jama.294.11.1399 · Cited by 148
Choline intake and genetic polymorphisms influence choline metabolite concentrations in human breast milk and plasma
Fischer, L. M., Costa, K. A. D., Galanko, J. A., Sha, W., Stephenson, B., Vick, J. A., & Zeisel, S. H. (2010) · American Journal of Clinical Nutrition · doi:10.3945/ajcn.2010.29459 · Cited by 141
Karyotypic Determinants of Chromosome Instability in Aneuploid Budding Yeast
Zhu, J., Pavelka, N., Bradford, W. D., Rancati, G. I., & Li, R. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002719 · Cited by 136
Predictive testing for Huntington disease: interpretation and significance of intermediate alleles
Semaka, A., Creighton, S., Warby, S. C., & Hayden, M. R. (2006) · Clinical Genetics · doi:10.1111/j.1399-0004.2006.00668.x · Cited by 133
Analysis of High-Resolution HapMap of DTNBP1 (Dysbindin) Suggests No Consistency between Reported Common Variant Associations and Schizophrenia
Mutsuddi, M., Morris, D. W., Waggoner, S. G., Daly, M. J., Scolnick, E. M., & Sklar, P. B. (2006) · The American Journal of Human Genetics · doi:10.1086/508942 · Cited by 119
Systematic Analysis of Glutamatergic Neurotransmission Genes in Alcohol Dependence and Adolescent Risky Drinking Behavior
Schumann, G., Johann, M., Frank, J., Preuss, U. W., Dahmen, N., Laucht, M., Rietschel, M., Rujescu, D., Lourdusamy, A., Clarke, T., et al. (2008) · Archives of General Psychiatry · doi:10.1001/archpsyc.65.7.826 · Cited by 116
Matrix-Assisted Laser Desorption/Ionisation, Time-of-Flight Mass Spectrometry in Genomics Research
Ragoussis, J., Elvidge, G. P., Kaur, K., & Colella, S. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020100 · Cited by 114
Modulation of nitric oxide formation by endothelial nitric oxide synthase gene haplotypes
Metzger, I. F., Sertorio, J. T. C., & Tanus-Santos, J. E. (2007) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2007.06.012 · Cited by 111
Susceptible and protective eNOS haplotypes in hypertensive black and white subjects
Sandrim, V. C., Coelho, E. B., Nobre, F. D., Arado, G. M., Lanchote, V. L., & Tanus-Santos, J. E. (2005) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2005.08.003 · Cited by 104
Radiogenomics: a key component of precision cancer medicine
Liu, Z.-Q., Duan, T., Zhang, Y.-Y., Weng, S.-Y., Xu, H.-X., Ren, Y.-Q., Zhang, Z.-Y., & Han, X.-W. (2023) · British Journal of Cancer · doi:10.1038/s41416-023-02317-8 · Cited by 98
Nutrigenomics and metabolomics will change clinical nutrition and public health practice: insights from studies on dietary requirements for choline
Zeisel, S. H. (2007) · American Journal of Clinical Nutrition · doi:10.1093/ajcn/86.3.542 · Cited by 94
Is the Association between Cigarette Smoking and Breast Cancer Modified by Genotype? A Review of Epidemiologic Studies and Meta-analysis
Terry, P., & Goodman, M. G. (2006) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-05-0853 · Cited by 91
TGF-β1 functional polymorphisms: a review
Cebinelli, G. C. M., Trugilo, K. P., Badaro‐Garcia, S., & de Oliveira, K. B. (2016) · European Cytokine Network · doi:10.1684/ecn.2016.0382 · Cited by 95
Pooled analysis of iron-related genes in Parkinson's disease: Association with transferrin
Rhodes, S. L., Buchanan, D. D., Ahmed, I., Taylor, K. D., Loriot, M., Sinsheimer, J. S., Bronstein, J. M., Elbaz, A., Mellick, G. D., Rotter, J. I., et al. (2013) · Neurobiology of Disease · doi:10.1016/j.nbd.2013.09.019 · Cited by 87
eNOS Haplotypes Associated with Gestational Hypertension or Preeclampsia
Sandrim, V. C., Palei, A. C., Cavalli, R. D. C., Araujo, F. M., Ramos, E. S., Duarte, G. G., & Tanus-Santos, J. E. (2008) · Pharmacogenomics · doi:10.2217/14622416.9.10.1467 · Cited by 87
Influence of eNOS haplotypes on the plasma nitric oxide products concentrations in hypertensive and type 2 diabetes mellitus patients
Sandrim, V. C., de Syllos, R. W. C., Lisboa, H. R. K., Tres, G. S., & Tanus-Santos, J. E. (2007) · Nitric Oxide · doi:10.1016/j.niox.2006.12.007 · Cited by 80
Endothelial nitric oxide synthase haplotypes affect the susceptibility to hypertension in patients with type 2 diabetes mellitus
Sandrim, V. C., de Syllos, R. W. C., Lisboa, H. R. K., Tres, G. S., & Tanus-Santos, J. E. (2006) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2005.12.011 · Cited by 78
EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease
on behalf of the European Molecular Genetic Quality Network (EMQN), Losekoot, M., van Belzen, M. J., Seneca, S., Bauer, P. O., Stenhouse, S. A. R., & Barton, D. E. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.200 · Cited by 74
Possible relations between the polymorphisms of the cytokines IL-19, IL-20 and IL-24 and plaque-type psoriasis
Kõks, S., Kingo, K., Vabrit, K., Rätsep, R., Karelson, M., Silm, H., & Vasar, E. (2005) · Genes and Immunity · doi:10.1038/sj.gene.6364216 · Cited by 74
eNOS haplotypes affect the responsiveness to antihypertensive therapy in preeclampsia but not in gestational hypertension
Sandrim, V. C., Palei, A. C., Luizon, M. R., Izidoro‐Toledo, T. C., Cavalli, R. D. C., & Tanus-Santos, J. E. (2009) · The Pharmacogenomics Journal · doi:10.1038/tpj.2009.38 · Cited by 74
Genetic Basis for Adverse Events after Smallpox Vaccination
Reif, D. M., McKinney, B. A., Motsinger‐Reif, A. A., Chanock, S. J., Edwards, K. M., Rock, M. T., Moore, J. H., & Crowe, J. E. (2008) · The Journal of Infectious Diseases · doi:10.1086/588670 · Cited by 73
Folate metabolic gene polymorphisms and childhood acute lymphoblastic leukemia: a case–control study
Gast, A., Bermejo, J. L., Flohr, T., Stanulla, M., Burwinkel, B., Schrappe, M., Bartram, C. R., Hemminki, K., & Kumar, R. (2006) · Leukemia · doi:10.1038/sj.leu.2404474 · Cited by 71
Clinical and pharmacogenetic impact of endothelial nitric oxide synthase polymorphisms on cardiovascular diseases
Oliveira‐Paula, G. H., Lacchini, R., & Tanus-Santos, J. E. (2016) · Nitric Oxide · doi:10.1016/j.niox.2016.08.004 · Cited by 72
Human methylenetetrahydrofolate reductase pharmacogenomics: gene resequencing and functional genomics
Martin, Y. N., Salavaggione, O. E., Eckloff, B. W., Wieben, E. D., Schaid, D. J., & Weinshilboum, R. M. (2006) · Pharmacogenetics and Genomics · doi:10.1097/01.fpc.0000194423.20393.08 · Cited by 68
The population genetics of chronic kidney disease: insights from the MYH9–APOL1 locus
Rosset, S., Tzur, S., Behar, D. M., Wasser, W. G., & Skorecki, K. L. (2011) · Nature Reviews Nephrology · doi:10.1038/nrneph.2011.52 · Cited by 68
Vascular endothelial growth factor genotypes and haplotypes are associated with pre-eclampsia but not with gestational hypertension
Sandrim, V. C., Palei, A. C., Cavalli, R. D. C., Araujo, F. M., Ramos, E. S., Duarte, G. G., & Tanus-Santos, J. E. (2008) · Molecular Human Reproduction · doi:10.1093/molehr/gan076 · Cited by 66
Sources of Interindividual Variability
Thummel, K. E., & Lin, Y. S. (2014) · Methods in molecular biology · doi:10.1007/978-1-62703-758-7_17 · Cited by 65
The Drug Development Crisis: Efficiency and Safety
Caskey, C. T. (2006) · Annual Review of Medicine · doi:10.1146/annurev.med.58.042705.124037 · Cited by 61
Robustness of Inference of Haplotype Block Structure
Schwartz, R. S., Halldórsson, B. V., Bafna, V., Clark, A. G., & Istrail, S. (2003) · Journal of Computational Biology · doi:10.1089/106652703763255642 · Cited by 61
PAH, genetic susceptibility and breast cancer risk: An update from the Long Island Breast Cancer Study Project
Gammon, M. D., & Santella, R. M. (2008) · European Journal of Cancer · doi:10.1016/j.ejca.2008.01.026 · Cited by 60
Endothelial nitric oxide synthase haplotypes are related to blood pressure elevation, but not to resistance to antihypertensive drug therapy
Sandrim, V. C., Yugar‐Toledo, J. C., Desta, Z., Flockhart, D. A., Moreno, H., & Tanus-Santos, J. E. (2006) · Journal of Hypertension · doi:10.1097/01.hjh.0000251899.47626.4f · Cited by 59
Effects of eNOS polymorphisms on nitric oxide formation in healthy pregnancy and in pre-eclampsia
Sandrim, V. C., Palei, A. C., Sertorio, J. T. C., Cavalli, R. D. C., Duarte, G. G., & Tanus-Santos, J. E. (2010) · Molecular Human Reproduction · doi:10.1093/molehr/gaq030 · Cited by 58
Functional consequences of nonsynonymous single nucleotide polymorphisms in the CB2 cannabinoid receptor
Carrasquer, A., Nebane, N. M., Williams, W. M., & Song, Z.-H. (2010) · Pharmacogenetics and Genomics · doi:10.1097/fpc.0b013e3283367c6b · Cited by 56
Comparison of variants of canonical correlation analysis and partial least squares for combined analysis of MRI and genetic data
Grellmann, C., Bitzer, S., Neumann, J., Westlye, L. T., Andreassen, O. A., Villringer, A., & Horstmann, A. (2014) · NeuroImage · doi:10.1016/j.neuroimage.2014.12.025 · Cited by 56
BNTagger: improved tagging SNP selection using Bayesian networks
Lee, P. H., & Shatkay, H. (2006) · Bioinformatics · doi:10.1093/bioinformatics/btl233 · Cited by 55
Genotype and haplotype analysis of cell cycle genes in sporadic colorectal cancer in the Czech Republic
Vymetalkova, V. P., Pardini, B., Naccarati, A., Landi, S., Slyšková, J., Novotný, J. P., Vodičková, L., Bermejo, J. L., Hanova, M., Šmerhovský, Z., et al. (2009) · Human Mutation · doi:10.1002/humu.20931 · Cited by 56
Does eNOS derived nitric oxide protect the young from severe COVID-19 complications?
Guan, S. P., Seet, R. C. S., & Kennedy, B. K. (2020) · Ageing Research Reviews · doi:10.1016/j.arr.2020.101201 · Cited by 57
Common variation in cytochrome P450 epoxygenase genes and the risk of incident nonfatal myocardial infarction and ischemic stroke
Marciante, K. D., Totah, R. A., Heckbert, S. R., Smith, N. L., Lemaître, R. N., Lumley, T., Rice, K. M., Hindorff, L. A., Bis, J. C., Hartman, B., et al. (2008) · Pharmacogenetics and Genomics · doi:10.1097/fpc.0b013e3282fd1287 · Cited by 52
MTHFR and MTRR genotype and haplotype analysis and colorectal cancer susceptibility in a case–control study from the Czech Republic
Pardini, B., Kumar, R., Naccarati, A., Prasad, R. B., Försti, A., Vymetalkova, V. P., Vodičková, L., Novotný, J. P., Hemminki, K., & Vodička, P. (2011) · Mutation Research/Genetic Toxicology and Environmental Mutagenesis · doi:10.1016/j.mrgentox.2010.12.008 · Cited by 52
Hapl-o-Mat: open-source software for HLA haplotype frequency estimation from ambiguous and heterogeneous data
Schäfer, C., Schmidt, A. H., & Sauter, J. (2017) · BMC Bioinformatics · doi:10.1186/s12859-017-1692-y · Cited by 53
Understanding next generation sequencing in oncology: A guide for oncologists
Moorcraft, S. Y., de Castro, D. G., & Walker, B. A. (2015) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2015.06.007 · Cited by 51
Haplotypes of vitamin D receptor modulate the circulating levels of lead in exposed subjects
Rezende, V. B., Barbosa, F., Montenegro, M. F., Sandrim, V. C., Gerlach, R. F., & Tanus-Santos, J. E. (2007) · Archives of Toxicology · doi:10.1007/s00204-007-0231-4 · Cited by 50
Inherited polymorphisms in the RNA-mediated interference machinery affect microRNA expression and lung cancer survival
Rotunno, M., Zhao, Y., Bergen, A. W., Koshiol, J. E., Burdette, L. A., Rubagotti, M., Linnoila, R. I., Marincola, F. M., Bertazzi, P. A., Pesatori, A. C., et al. (2010) · British Journal of Cancer · doi:10.1038/sj.bjc.6605976 · Cited by 49
A genetic algorithm–support vector machine method with parameter optimization for selecting the tag SNPs
İlhan, İ., & Tezel, G. (2012) · Journal of Biomedical Informatics · doi:10.1016/j.jbi.2012.12.002 · Cited by 48
Planning the Human Variome Project: The Spain report
Kaput, J., Cotton, R. G. H., Hardman, L., Watson, M. S., Aqeel, A. I. A., Al-Aama, J. Y., Al‐Mulla, F., Alonso, S., Aretz, S., Auerbach, A. D., et al. (2009) · Human Mutation · doi:10.1002/humu.20972 · Cited by 48
A Genetic Case-Control Study Confirms the Implication of SMAD7 and TNF Locus in the Development of Proliferative Vitreoretinopathy
Rojas, J., Fernández, I., Jimeno, J. C. P., MacLaren, R. E., Ramkissoon, Y., Harsum, S., Charteris, D. G., van Meurs, J. C., Amarakoon, S., Ruiz‐Moreno, J. M., et al. (2012) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.12-10931 · Cited by 48
Investigation of the functional role of human Interleukin-8 gene haplotypes by CRISPR/Cas9 mediated genome editing
Benakanakere, M. R., Finoti, L. S., Tanaka, U., Grant, G. R., Scarel‐Caminaga, R. M., & Kinane, D. F. (2016) · Scientific Reports · doi:10.1038/srep31180 · Cited by 49
Functional polymorphisms in the promoter of the matrix metalloproteinase-9 (MMP-9) gene are not linked with significant plasma MMP-9 variations in healthy subjects
Demacq, C., Vasconcellos, V. B., Marcaccini, A. M., Gerlach, R. F., Silva, W. A., & Tanus-Santos, J. E. (2008) · Clinical Chemistry and Laboratory Medicine (CCLM) · doi:10.1515/cclm.2008.014 · Cited by 46
Haplotype Analysis of the CYP8A1 Gene Associated With Myocardial Infarction
Xie, X., Ma, Y.-T., Fu, Z.-Y., Yang, Y., Ma, X., Chen, B., Wang, Y., & Liu, F. (2009) · Clinical and Applied Thrombosis/Hemostasis · doi:10.1177/1076029608329581 · Cited by 45
Endothelial Nitric Oxide Synthase Haplotypes Are Associated with Features of Metabolic Syndrome
González‐Sánchez, J. L., Martin, N. G., Sáez, M. E., Aben, K. K. H., Martínez-Calatrava, M. J., & Serrano‐Ríos, M. (2006) · Clinical Chemistry · doi:10.1373/clinchem.2006.075176 · Cited by 44
Lead and cognitive function in ALAD genotypes in the third National Health and Nutrition Examination Survey
Krieg, E. F., Butler, M. A., Chang, M., Liu, T., Yesupriya, A., Lindegren, M. L., & Dowling, N. F. (2009) · Neurotoxicology and Teratology · doi:10.1016/j.ntt.2009.08.003 · Cited by 44
Matrix metalloproteinase 8 (MMP8) gene polymorphisms in chronic periodontitis
Hollá, L. I., Hrdličková, B., Vokurka, J., & Fassmann, A. (2011) · Archives of Oral Biology · doi:10.1016/j.archoralbio.2011.08.018 · Cited by 44
The Association of Interleukin‐4 Haplotypes With Chronic Periodontitis in a Czech Population
Hollá, L. I., Fassmann, A., Augustín, P., Halabala, T., Znojil, V., & Vaněk, J. (2008) · Journal of Periodontology · doi:10.1902/jop.2008.080035 · Cited by 44
ORIGINAL ARTICLE: Role of Inflammatory Cytokines and eNOS Gene Polymorphism in Pathophysiology of Pre‐Eclampsia
Singh, A., Sharma, D., Raghunandan, C., & Bhattacharjee, J. (2009) · American Journal of Reproductive Immunology · doi:10.1111/j.1600-0897.2009.00781.x · Cited by 44
Haplotype association of IL‐8 gene with Behcet’s disease
Lee, E. B., Kim, J. Y., Zhao, J., Park, M. H., & Song, Y. W. (2006) · Tissue Antigens · doi:10.1111/j.1399-0039.2006.00736.x · Cited by 42
The T309G MDM2 Gene Polymorphism Is a Novel Risk Factor for Proliferative Vitreoretinopathy
Pastor‐Idoate, S., Rodríguez‐Hernández, I., Rojas, J., Fernández, I., García-Gutiérrez, M. T., Ruiz‐Moreno, J. M., Rocha‐Sousa, A., Ramkissoon, Y., Harsum, S., MacLaren, R. E., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0082283 · Cited by 41
IL23R haplotypes provide a large population attributable risk for Crohnʼs disease
Taylor, K. D., Targan, S. R., Mei, L., Ippoliti, A., McGovern, D. P. B., Mengesha, E., King, L. M., & Rotter, J. I. (2008) · Inflammatory Bowel Diseases · doi:10.1002/ibd.20478 · Cited by 40
Association of the T‐786C, G894T and 4a/4b polymorphisms of the endothelial nitric oxide synthase gene with vasculogenic erectile dysfunction in Iranian subjects
Safarinejad, M. R., Khoshdel, A., Shekarchi, B., Taghva, A., & Safarinejad, S. (2010) · British Journal of Urology · doi:10.1111/j.1464-410x.2010.09755.x · Cited by 39
Endothelial nitric oxide synthase genotype and haplotype are not associated with diabetic retinopathy in diabetes type 2 patients
de Syllos, R. W. C., Sandrim, V. C., Lisboa, H. R. K., Tres, G. S., & Tanus-Santos, J. E. (2006) · Nitric Oxide · doi:10.1016/j.niox.2006.02.002 · Cited by 39
Matrix metalloproteinase (MMP)-2 gene polymorphisms affect circulating MMP-2 levels in patients with migraine with aura
Gonçalves, F. M., Martins-Oliveira, A., Lacchini, R., Belo, V. D. A., Speciali, J. G., Dach, F., & Tanus-Santos, J. E. (2012) · Gene · doi:10.1016/j.gene.2012.09.109 · Cited by 38
Interaction between FKBP5 gene and childhood trauma on psychosis, depression and anxiety symptoms in a non-clinical sample
de Castro-Català, M., Peña, E., Kwapil, T. R., Papiol, S., Sheinbaum, T., Cristóbal-Narváez, P., Ballespí, S., Neus Barrantes-vidal, A., & Rosa, A. (2017) · Psychoneuroendocrinology · doi:10.1016/j.psyneuen.2017.08.024 · Cited by 41
Acute lung injury and the coagulation pathway: potential role of gene polymorphisms in the protein C and fibrinolytic pathways
Sapru, A., Wiemels, J. L., Witte, J. S., Ware, L. B., & Matthay, M. A. (2006) · Intensive Care Medicine · doi:10.1007/s00134-006-0223-5 · Cited by 38
Endothelial Nitric Oxide Synthase Haplotypes Associated with Aura in Patients with Migraine
Gonçalves, F. M., Martins-Oliveira, A., Speciali, J. G., Luizon, M. R., Izidoro‐Toledo, T. C., Silva, P. S., Dach, F., & Tanus-Santos, J. E. (2011) · DNA and Cell Biology · doi:10.1089/dna.2010.1152 · Cited by 37
Interaction among nitric oxide (NO)-related genes in migraine susceptibility
Gonçalves, F. M., Luizon, M. R., Speciali, J. G., Martins-Oliveira, A., Dach, F., & Tanus-Santos, J. E. (2012) · Molecular and Cellular Biochemistry · doi:10.1007/s11010-012-1409-5 · Cited by 37
Pattern-Recognition Techniques with Haplotype Analysis in Pharmacogenomics
Lin, E., Hwang, Y., Liang, K., & Chen, E. Y. (2006) · Pharmacogenomics · doi:10.2217/14622416.8.1.75 · Cited by 37
Association of RGS2 variants with panic disorder in a Japanese population
Otowa, T., Shimada, T., Kawamura, Y., Sugaya, N., Yoshida, E., Inoue, K., Yasuda, S., Liu, X., Minato, T., Tochigi, M., et al. (2011) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31178 · Cited by 36
Vascular Endothelial Growth Factor Genetic Polymorphisms and Haplotypes in Women with Migraine
Gonçalves, F. M., Martins-Oliveira, A., Speciali, J. G., Izidoro‐Toledo, T. C., Luizon, M. R., Dach, F., & Tanus-Santos, J. E. (2010) · DNA and Cell Biology · doi:10.1089/dna.2010.1025 · Cited by 34
The role of stress‐regulation genes in moderating the association of stress and daily‐life psychotic experiences
Cristóbal-Narváez, P., Sheinbaum, T., Myin‐Germeys, I., Kwapil, T. R., de Castro-Català, M., Domínguez‐Martínez, T., Racioppi, A., Monsonet, M., Hinojosa‐Marqués, L., van Winkel, R., et al. (2017) · Acta Psychiatrica Scandinavica · doi:10.1111/acps.12789 · Cited by 39
eNOS haplotype associated with hypertension in obese children and adolescents
Souza-Costa, D. C., Belo, V. D. A., Silva, P. S., Metzger, I. F., Lanna, C. M. M., Machado, M. A., & Tanus-Santos, J. E. (2010) · International Journal of Obesity · doi:10.1038/ijo.2010.146 · Cited by 34
Promoter region of the bovine growth hormone receptor gene: Single nucleotide polymorphism discovery in cattle and association with performance in Brangus bulls1
Garrett, A. J., Rincón, G., Medrano, J. F. F., Elzo, M. A., Silver, G. A., & Thomas, M. G. (2008) · Journal of Animal Science · doi:10.2527/jas.2008-0990 · Cited by 34
Levels of human platelet-derived soluble CD40 ligand depend on haplotypes of CD40LG-CD40-ITGA2
Aloui, C., Prigent, A., Tariket, S., Sut, C., Fagan, J., Cognasse, F., Chakroun, T., Garraud, O., & Laradi, S. (2016) · Scientific Reports · doi:10.1038/srep24715 · Cited by 33
Variation in oxytocin receptor gene (OXTR) polymorphisms is associated with emotional and behavioral reactions to betrayal
Tabak, B. A., McCullough, M. E., Carver, C. S., Pedersen, E. J., & Cuccaro, M. L. (2013) · Social Cognitive and Affective Neuroscience · doi:10.1093/scan/nst042 · Cited by 38
The Interaction between Childhood Bullying and the FKBP5 Gene on Psychotic-Like Experiences and Stress Reactivity in Real Life
Cristóbal-Narváez, P., Sheinbaum, T., Rosa, A., Ballespí, S., de Castro-Català, M., Peña, E., Kwapil, T. R., & Neus Barrantes-vidal, A. (2016) · PLoS ONE · doi:10.1371/journal.pone.0158809 · Cited by 39
On the origin and structure of haplotype blocks
Shipilina, D., Pal, A., Stankowski, S., Chan, Y. F., & Barton, N. (2022) · Molecular Ecology · doi:10.1111/mec.16793 · Cited by 36
Genotype and haplotype analysis of TP53 gene and the risk of pancreatic cancer: an association study in the Czech Republic
Naccarati, A., Pardini, B., Vymetalkova, V. P., Šmerhovský, Z., Vodičková, Ľ., Souček, P., Vrána, D., Holcátová, I., Ryska, M., & Vodička, P. (2010) · Carcinogenesis · doi:10.1093/carcin/bgq032 · Cited by 32
Matrix metalloproteinase-9 genotypes and haplotypes are associated with multiple sclerosis and with the degree of disability of the disease
Fernandes, K., Brum, D. G., Sandrim, V. C., Guerreiro, C. T., Barreira, A. A., & Tanus-Santos, J. E. (2009) · Journal of Neuroimmunology · doi:10.1016/j.jneuroim.2009.07.004 · Cited by 31
Estimating Haplotype Frequency and Coverage of Databases
Egeland, T., & Salas, A. (2008) · PLoS ONE · doi:10.1371/journal.pone.0003988 · Cited by 31
Endothelial nitric oxide synthase tagSNPs influence the effects of enalapril in essential hypertension
Oliveira‐Paula, G. H., Lacchini, R., Luizon, M. R., Fontana, V., Silva, P. S., Biagi, C., & Tanus-Santos, J. E. (2016) · Nitric Oxide · doi:10.1016/j.niox.2016.03.006 · Cited by 32
Diet-Gene Interactions Underlie Metabolic Individuality and Influence Brain Development: Implications for Clinical Practice Derived from Studies on Choline Metabolism
Zeisel, S. H. (2012) · Annals of Nutrition and Metabolism · doi:10.1159/000337310 · Cited by 29
Analysis of the Role of Interleukin 6 Receptor Haplotypes in the Regulation of Circulating Levels of Inflammatory Biomarkers and Risk of Coronary Heart Disease
Gigante, B., Strawbridge, R. J., Velásquez, I. M., Golabkesh, Z., Silveira, A. M. V., Goel, A., Baldassarre, D., Veglia, F., Tremoli, E., Clarke, R., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0119980 · Cited by 30
Aldehyde dehydrogenase 2 genetic variations may increase susceptibility to Parkinson's disease in Han Chinese population
Zhang, X., Ye, Y.-L., Wang, Y.-N., Liu, F., Liu, X., Hu, B., Zou, M., & Zhu, J. (2015) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2015.06.001 · Cited by 29
Endothelial Nitric Oxide Synthase Haplotypes Associated with Hypertension Do Not Predispose to Cardiac Hypertrophy
Vasconcellos, V. B., Lacchini, R., Jacob‐Ferreira, A. L., Sales, M. L., Ferreira-Sae, M. C., Schreiber, R., Nadruz, W., & Tanus-Santos, J. E. (2010) · DNA and Cell Biology · doi:10.1089/dna.2009.0955 · Cited by 29
SLC30A8 (ZnT8) variations and type 2 diabetes in the Chinese Han population
Xu, J., Wang, J., & Chen, B. (2012) · Genetics and Molecular Research · doi:10.4238/2012.may.24.1 · Cited by 29
Identification of Base Pairs in Single-Nucleotide Polymorphisms by MutS Protein-Mediated Capillary Electrophoresis
Drabovich, A. P., & Krylov, S. N. (2006) · Analytical Chemistry · doi:10.1021/ac0520386 · Cited by 28
Single nucleotide polymorphism in the MMP-9 gene is associated with susceptibility to develop multiple sclerosis in an Italian case-control study
Russa, A. L., Cittadella, R., Marco, E. V. D., Valentino, P., Andreoli, V., Trecroci, F., Latorre, V., Gambardella, A., & Quattrone, A. (2010) · Journal of Neuroimmunology · doi:10.1016/j.jneuroim.2010.04.016 · Cited by 28
Association of Endothelial Nitric Oxide Synthase Gene Polymorphisms (894G/T, −786T/C, G10T) and Clinical Findings in Patients with Migraine
Eröz, R., Bahadir, A., Dikici, S., & Taşdemir, Ş. (2014) · Neuromolecular medicine · doi:10.1007/s12017-014-8311-0 · Cited by 29
Involvement of genetic factors and lifestyle on the occurrence of colorectal and gastric cancer
Baroudi, O., & Elgaaïed, A. B. A. (2016) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2016.08.014 · Cited by 28
Gene–Gene Interactions Among PRKCA, NOS3 and BDKRB2 Polymorphisms Affect the Antihypertensive Effects of Enalapril
Oliveira‐Paula, G. H., Luizon, M. R., Lacchini, R., Fontana, V., Silva, P. S., Biagi, C., & Tanus-Santos, J. E. (2016) · Basic & Clinical Pharmacology & Toxicology · doi:10.1111/bcpt.12682 · Cited by 30
Association of haplotypes in the IL8 gene with susceptibility to chronic periodontitis in a Brazilian population
Kim, Y. J., Viana, A. C., Curtis, K. M. C., Orrico, S. R. P., Cirelli, J. A., Mendes‐Junior, C. T., & Scarel‐Caminaga, R. M. (2010) · Clinica Chimica Acta · doi:10.1016/j.cca.2010.05.014 · Cited by 27
Homogeneous and one-step fluorescent allele-specific PCR for SNP genotyping assays using conjugated polyelectrolytes
Duan, X., Liu, L., & Wang, S. (2008) · Biosensors and Bioelectronics · doi:10.1016/j.bios.2008.10.027 · Cited by 26

Authors: Crawford, D. C., & Nickerson, D. A.
Affiliations: University of Washington (US)
ORCID: Crawford, Dana C.
Nickerson, Deborah A.
Venue: Annual Review of Medicine
Publisher: Annual Reviews
Published: 2005-02-01
Volume: 56
Issue: 1
Pages: 303-320
ISSN: 0066-4219 (ISSN-L)
1545-326X
DOI: 10.1146/annurev.med.56.082103.104540
OpenAlex: W2112491025
Cited by: 344
References: 123
Citations by year: 2026: 1 · 2025: 2 · 2024: 10 · 2023: 9 · 2022: 12 · 2021: 13 · 2020: 10 · 2019: 8 · 2018: 9 · 2017: 11 · 2016: 16 · 2015: 19 · 2014: 17 · 2013: 18 · 2012: 25
FWCI: 2.58
Type: journal article
Language: en
Open access: closed
Locations: Annual Review of Medicine (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health (n01es15478-9-0-0)
National Heart, Lung, and Blood Institute (HL 66682, U01HL066682)
National Institute of Environmental Health Sciences (ES15478)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
Keywords: haplotypes, single nucleotide polymorphisms, haplotype blocks, gene mapping, sequence variation, genetic association studies, haplotype analysis
MeSH terms: Chromosome Mapping, Genotype, Haplotypes, Humans, Mathematical Computing, Software, Genetic Variation, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Genetic Diseases, Inborn, Genetic Research

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Definition And Clinical Importance Of Haplotypes.

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks