« Previous
Next »
Seminars in Hematology
Volume 40, Issue 4
, Pages 321-328
, October 2003
Genetic variation and hematology: single-nucleotide polymorphisms, haplotypes, and complex disease
References
- . Granulocytosis causing sickle-cell crisis. Lancet. 1998;351:959
- Thiopurine methyltransferase alleles in British and Ghanaian populations. Hum Mol Genet. 1999;8:367–370
- Thiopurine methyltransferase genotype predicts therapy-limiting severe toxicity from azathioprine. Ann Intern Med. 1998;129:716–718
- . Discovering genotypes underlying human phenotypes (past successes for mendelian disease, future approaches for complex disease). Nat Genet. 2003;33(suppl):228–237
- . Rethinking genetic strategies to study complex diseases. Trends Mol Med. 2001;7:512–516
- Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet. 1999;22:231–238
- . Are sickle cell disease patients with stroke genetically predisposed to the event by inheriting a tendency to high tumor necrosis factor levels?. Am J Hematol. 1998;58:250
- . Using genetic variation to study immunomodulation. Curr Opin Pharmacol. 2002;2:463–469
- . SNPing away at innate immunity. J Clin Invest. 1999;104:369–370
- . One gene and one outcome? No way. Trends Mol Med. 2002;8:266–269
- . Candidate genes and single nucleotide polymorphisms (SNPs) in the study of human disease. Dis Markers. 2001;17:89–98
- Association between chronic disseminated candidiasis in adult acute leukemia and common IL4 promoter haplotypes. J Infect Dis. 2003;187:1153–1156
- A common haplotype of interleukin-4 gene IL4 is associated with severe respiratory syncytial virus disease in Korean children. J Infect Dis. 2002;186:1207–1211
- . Epidemiological methods for studying gene and environmental factors in complex diseases. Lancet. 2001;358:1356–1360
- The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations. Pharmacogenetics. 1999;9:37–42
- . Variations on a theme (Cataloging human DNA sequence variation). Science. 1997;278:1580–1581
-
.
Genetic epidemiology of single-nucleotide polymorphisms.
Proc Natl Acad Sci USA. 1999;96:15173–15177
- A vision for the future of genomics research. Nature. 2003;422:835–847
- . Shattuck lecture—Medical and societal consequences of the Human Genome Project. N Engl J Med. 1999;341:28–37
- High-resolution haplotype structure in the human genome. Nat Genet. 2001;29:229–232
- Glutathione S-transferase genotypes, genetic susceptibility, and outcome of therapy in childhood acute lymphoblastic leukemia. Blood. 2002;100:67–71
- Differing contribution of thiopurine methyltransferase to mercaptopurine versus thioguanine effects in human leukemic cells. Cancer Res. 2001;61:5810–5816
- Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum Mol Genet. 2003;12:205–216
- Genome-wide detection of LOH in prostate cancer using human SNP microarray technology. Genomics. 2003;81:260–269
- . Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol. 1995;12:921–927
- Genetic analysis of case/control data using estimated haplotype frequencies (Application to APOE locus variation and Alzheimer’s disease). Genome Res. 2001;11:143–151
- Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease. J Clin Invest. 1998;102:2146–2155
- Association of variant alleles of mannose binding lectin with severity of pulmonary disease in cystic fibrosis (Cohort study). BMJ. 1999;319:1166–1167
- The structure of haplotype blocks in the human genome. Science. 2002;296:2225–2229
- Mannose-binding lectin (MBL) therapy in an MBL-deficient patient with severe cystic fibrosis lung disease. Pediatr Pulmonol. 2002;33:201–207
- Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. J Clin Invest. 1999;104:431–437
- Association of mannose-binding lectin gene variation with disease severity and infections in a population-based cohort of systemic lupus erythematosus patients. Genes Immun. 2001;2:442–450
- Screening a large reference sample to identify very low frequency sequence variants (Comparisons between two genes). Nat Genet. 2001;27:435–438
- Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet. 1999;22:239–247
- A comprehensive review of genetic association studies. Genet Med. 2002;4:45–61
- Mannose-binding protein B allele confers protection against tuberculous meningitis. Pediatr Res. 1999;45:459–464
- Distinct HLA associations by stroke subtype in children with sickle cell anemia. Blood. 2003;101:2865–2869
- A novel multilocus genotyping assay to identify genetic predictors of stroke in sickle cell anaemia. Br J Haematol. 2001;114:718–720
- Genome-wide genetic characterization of bladder cancer (A comparison of high-density single-nucleotide polymorphism arrays and PCR-based microsatellite analysis). Cancer Res. 2003;63:2216–2222
- . GSTT1 and CYP2E1 polymorphisms and trihalomethanes in drinking water (Effect on childhood leukemia). Environ Health Perspect. 2002;110:591–593
- . Pharmacogenetics (A tool for individualizing antineoplastic therapy). Clin Pharmacokinet. 2000;39:315–325
- Haplotype tagging for the identification of common disease genes. Nat Genet. 2001;29:233–237
- . Glutathione S-transferase P1 genetic polymorphisms and susceptibility to childhood acute lymphoblastic leukaemia. Pharmacogenetics. 2002;12:655–658
- Role of NQO1, MPO and CYP2E1 genetic polymorphisms in the susceptibility to childhood acute lymphoblastic leukemia. Int J Cancer. 2002;97:230–236
- . Variation is the spice of life. Nat Genet. 2001;27:234–236
- . Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat Genet. 1999;22:139–144
- Initial sequencing and analysis of the human genome. Nature. 2001;409:860–921
- . Role of hemostatic gene polymorphisms in venous and arterial thrombotic disease. Blood. 2000;95:1517–1532
- Loss-of-heterozygosity analysis of small-cell lung carcinomas using single-nucleotide polymorphism arrays. Nat Biotechnol. 2000;18:1001–1005
- Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet. 2003;33:177–182
- Thiopurine methyltransferase activity in American white subjects and black subjects. Clin Pharmacol Ther. 1994;55:15–20
- . Pharmacogenomics (Unlocking the human genome for better drug therapy). Annu Rev Pharmacol Toxicol. 2001;41:101–121
- Ethnic differences in thiopurine methyltransferase pharmacogenetics (Evidence for allele specificity in Caucasian and Kenyan individuals). Pharmacogenetics. 1999;9:773–776
- Mannose-binding lectin gene polymorphisms are associated with major infection following allogeneic hemopoietic stem cell transplantation. Blood. 2002;99:3524–3529
- Deficiency of mannose-binding lectin and burden of infection in children with malignancy (A prospective study). Lancet. 2001;358:614–618
- Cerebrovascular accidents in sickle cell disease (rates and risk factors). Blood. 1998;91:288–294
- Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature. 1982;296:627–631
- Association between deficiency of mannose-binding lectin and severe infections after chemotherapy. Lancet. 2001;358:637–638
- . Are rare variants responsible for susceptibility to complex diseases?. Am J Hum Genet. 2001;69:124–137
- Sequence variation in the human angiotensin converting enzyme. Nat Genet. 1999;22:59–62
- . The future of genetic studies of complex human diseases. Science. 1996;273:1516–1517
- . The genetic epidemiology of cancer (Interpreting family and twin studies and their implications for molecular genetic approaches). Cancer Epidemiol Biomarkers Prev. 2001;10:733–741
- . Searching for genetic determinants in the new millennium. Nature. 2000;405:847–856
- . Genome-based pharmacogenetics and the pharmaceutical industry. Nat Rev Drug Discov. 2002;1:541–549
- . The use of common genetic polymorphisms to enhance the epidemiologic study of environmental carcinogens. Biochim Biophys Acta. 2001;1471:C1–C10
- Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet. 2002;70:425–434
-
Chosing haplotype-tagging SNP based on unphased genotype data using a preliminary sample of the unrelated subjects with an example from the multiethnic cohort study.
Human Hered. 2003;55:27–36
-
Long-term study of the clinical significance of loss of heterozygosity in childhood acute lymphoblastic leukemia.
Leukemia. 2003;7:149–154
- Using genetic variation to study human disease. Trends Mol Med. 2001;7:507–512
- Variants in the VCAM1 gene and risk for symptomatic stroke in sickle cell disease. Blood. 2002;100:4303–4309
- Patterns of low-affinity immunoglobulin receptor polymorphisms in stroke and homozygous sickle cell disease. Am J Hematol. 2002;69:109–114
-
The sequence of the human genome.
Science. 2001;16:1304–1351
- . Study of genes and environmental factors in complex diseases. Lancet. 2002;359:1155
- . Mercaptopurine pharmacogenetics (Monogenic inheritance of erythrocyte thiopurine methyltransferase activity). Am J Hum Genet. 1980;32:651–662
- Chronic granulomatous disease (Report on a national registry of 368 patients). Medicine (Baltimore). 2000;79:155–169
- . Linkage disequilibrium mapping in populations of variable size using the decay of haplotype sharing and a stepwise-mutation model. Genet Epidemiol. 2000;19(suppl 1):S99–S105
PII: S0037-1963(03)00198-7
doi: 10.1016/S0037-1963(03)00198-7
© 2003 Elsevier Inc. All rights reserved.
« Previous
Next »
Seminars in Hematology
Volume 40, Issue 4
, Pages 321-328
, October 2003
