Research Topics
Genomes and Genes | E R MartinSummaryAffiliation: Duke University Medical Center Country: USA Publications
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Publications
Application of a rank-based genetic association test to age-at-onset data from the Collaborative Study on the Genetics of Alcoholism studyYi Ju Li
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
BMC Genet 6:S53. 2005..These two regions may harbor genes that regulate age at onset of ALDX1 and ALDX2. Future fine mapping of these two regions with densely spaced markers is warranted...- Accounting for linkage in family-based tests of association with missing parental genotypesEden R Martin
Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 73:1016-26. 2003..As an example, we compare the performance of the tests in a candidate-gene study in families with Parkinson disease... 
A novel method to identify gene-gene effects in nuclear families: the MDR-PDTE R Martin
Department of Medicine, Center for Human Genetics, Duke University Medical Center, 595 LaSalle Street, DUMC 3445, Durham, NC 27710, USA
Genet Epidemiol 30:111-23. 2006..These results show the utility of the MDR-PDT for understanding the genetics of complex diseases...- Genotype-based association test for general pedigrees: the genotype-PDTE R Martin
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Genet Epidemiol 25:203-13. 2003.... - An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorderA E Ashley-Koch
Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
Ann Hum Genet 70:281-92. 2006..However, the consistency of results across analyses suggests that we have defined a useful framework for evaluating gene-gene interactions... - SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer diseaseE R Martin
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC, 27710, USA duke edu
Am J Hum Genet 67:383-94. 2000.... - Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autismD Q Ma
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 77:377-88. 2005..These results support the hypothesis that GABA receptor subunit genes are involved in autism, most likely via complex gene-gene interactions... - Exploring the association of glyceraldehyde-3-phosphate dehydrogenase gene and Alzheimer diseaseP I Lin
Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
Neurology 67:64-8. 2006..A recent study reported the association between the glyceraldehyde-3-phosphate dehydrogenase (GAPD) gene on chromosome 12p and the risk of LOAD... - Apolipoprotein E controls the risk and age at onset of Parkinson diseaseY J Li
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Neurology 62:2005-9. 2004..Most previous studies seeking to establish such a link used case-control datasets and results have been inconsistent... - Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorderM M Menold
Department of Medicine and the Center for Human Genetics, Duke University Medical Center, Durham NC 27710, USA
J Neurogenet 15:245-59. 2001..02 and intron5_687T/C, p=0.03), suggesting that the GABRG3 gene or a gene nearby contributes to genetic risk in AutD... - Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson diseaseE R Martin
Center for Human Genetics, Box 2903, Duke University Medical Center, Durham, NC 27710, USA
JAMA 286:2245-50. 2001..001) was detected between 4 of the 5 SNPs (SNPs 3, 9i, 9ii, and 11). CONCLUSIONS: This integrated approach of genetic linkage and positional association analyses implicates tau as a susceptibility gene for idiopathic PD... - Life after the screen: making sense of many P-valuesS Schmidt
Center for Human Genetics, Duke University Medical Center, Box 3468, Durham, North Carolina 27710, USA
Genet Epidemiol 21:S546-51. 2001..Genet Epidemiol, in press]. It appears that this approach is helpful for visualizing priority regions for follow-up analysis and reducing the number of false-positive linkage signals... - Lack of association between UBQLN1 and Alzheimer diseaseM A Slifer
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Am J Med Genet B Neuropsychiatr Genet 141:208-13. 2006..Our results suggest that UBQLN1 variants do not increase risk for AD in these data... - Analysis of the RELN gene as a genetic risk factor for autismD A Skaar
Department of Medicine, Center for Human Genetics, IGSP, Duke University Medical Center, Durham, NC, USA
Mol Psychiatry 10:563-71. 2005..The most significant association identified from this combined data set was for the 5'-UTR repeat (PDT P-value=0.002). These analyses show the potential of RELN as an important contributor to genetic risk in autism... - A test for linkage and association in general pedigrees: the pedigree disequilibrium testE R Martin
Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 67:146-54. 2000..Thus, the PDT provides a general test of linkage disequilibrium that can be widely applied to different data structures... - Power calculations for likelihood ratio tests for offspring genotype risks, maternal effects, and parent-of-origin (POO) effects in the presence of missing parental genotypes when unaffected siblings are availableE Rampersaud
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Genet Epidemiol 31:18-30. 2007.... - Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorderE R Martin
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Am J Med Genet 96:43-8. 2000..This finding lends support for previous reports implicating the involvement of genes in this region with AD. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:43-48, 2000.. - Genetic polymorphisms of the N-acetyltransferase genes and risk of Parkinson's diseaseJ M van der Walt
Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University Medical Center, Durham, NC 27710, USA
Neurology 60:1189-91. 2003..The authors did not find evidence for association with increased risk for PD between any individual NAT1 or NAT2 SNP or acetylation haplotype (N = 397 families, 1,580 individuals)... - No association between the APOE gene and autismK L Raiford
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Am J Med Genet B Neuropsychiatr Genet 125:57-60. 2004.... - A Monte Carlo procedure for two-stage tests with correlated dataE R Martin
Section of Medical Genetics, Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
Genet Epidemiol 18:48-62. 2000..We also discuss the use of a two-stage procedure when doing a genome scan for the data presented in the Genetic Analysis Workshop 9 study... - Linkage and association analysis of chromosome 19q13 in multiple sclerosisM A Pericak-Vance
Center for Human Genetics and Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA
Neurogenetics 3:195-201. 2001..While consistent, this effect appears to be modest with a maximum lambda(s) = 1.47, probably representing no more than 10% of the overall genetic effect in MS... - Analysis of association at single nucleotide polymorphisms in the APOE regionE R Martin
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA
Genomics 63:7-12. 2000..Our goal was to examine patterns of allelic association to begin to investigate the question of whether APOE could have been identified using SNPs. Our strongest evidence of association was at the 2 SNPs immediately flanking APOE... - Articular hypermobility is a protective factor for hand osteoarthritisV B Kraus
Duke University Medical Center, Durham, North Carolina 27710, USA
Arthritis Rheum 50:2178-83. 2004..Very few studies have evaluated the association of articular hypermobility and radiographic osteoarthritis (OA) in humans. We assessed hypermobility and its relationship to radiographic hand OA in a family-based study... - X-APL: an improved family-based test of association in the presence of linkage for the X chromosomeRen Hua Chung
Bioinformatics Research Center, North Carolina State University, Raleigh, NC, USA
Am J Hum Genet 80:59-68. 2007..To show its utility and to discuss interpretation in real-data analysis, we also applied the X-APL to candidate-gene data in a sample of families with Parkinson disease... - Interpretation of simultaneous linkage and family-based association tests in genome screensRen Hua Chung
Bioinformatics Research Center, North Carolina State University, Raleigh, NC 27710, USA
Genet Epidemiol 31:134-42. 2007..We concluded that when linkage and association tests are applied in the same data, the type I error rate of neither test will be affected and that power can be increased by applying tests conditionally... - NOS2A and the modulating effect of cigarette smoking in Parkinson's diseaseDana B Hancock
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Ann Neurol 60:366-73. 2006..NOS2A is a candidate gene for Parkinson's disease (PD) that potentially interacts with cigarette smoking. We examined NOS2A for association with PD risk and age at onset (AAO) and for interaction with smoking... - The APL test: extension to general nuclear families and haplotypes and examination of its robustnessRen-Hua Chung
Bioinformatics Research Center, North Carolina State University, Raleigh, N.C, USA
Hum Hered 61:189-99. 2006..We also evaluated general guidelines for the validity of APL with rare alleles and rare haplotypes. Software for the APL test is available from http://www.chg.duke.edu/research/apl.html... - Investigation of autism and GABA receptor subunit genes in multiple ethnic groupsAnn L Collins
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
Neurogenetics 7:167-74. 2006..0253). These results confirmed our earlier findings, indicating GABRA4 and GABRB1 as genes contributing to autism susceptibility, extending the effect to multiple ethnic groups and suggesting seizures as a stratifying phenotype... - Family-based case-control study of MAOA and MAOB polymorphisms in Parkinson diseaseSun J Kang
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Mov Disord 21:2175-80. 2006..02). No significant association was found in the male subset. Our results add to the evidence of involvement of MAOB in PD and suggest that the effect may be stronger in women... - No gene is an island: the flip-flop phenomenonPing I Lin
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
Am J Hum Genet 80:531-8. 2007.... - Disease associations and family-based testsWarren J Ewens
University of Pennsylvania, Philadelphia, Pennsylvania, USA
Curr Protoc Hum Genet . 2003..The unit includes the Sib TDT (S-TDT) method, which allows application of the principle of the TDT to sibships without parental data. This extension of TDT is potentially valuable for studying late onset diseases... - Pesticide exposure and risk of Parkinson's disease: a family-based case-control studyDana B Hancock
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
BMC Neurol 8:6. 2008..Pesticides and correlated lifestyle factors (e.g., exposure to well-water and farming) are repeatedly reported risk factors for Parkinson's disease (PD), but few family-based studies have examined these relationships... 
X-LRT: a likelihood approach to estimate genetic risks and test association with X-linked markers using a case-parents designLi Zhang
Bioinformatics Research Center, North Carolina State University, Raleigh, North Carolina, USA
Genet Epidemiol 32:370-80. 2008..In addition, estimation of disease-related marker relative risks provides a measure of the magnitude of X-linked genetic effects on complex disorders...- A multiple testing correction method for genetic association studies using correlated single nucleotide polymorphismsXiaoyi Gao
Center for Genetic Epidemiology and Statistical Genetics, Miami Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida 33136, USA
Genet Epidemiol 32:361-9. 2008..The efficiency and accuracy of the proposed method make it an attractive choice for multiple testing adjustment when there is high intermarker LD in the SNP data set... - Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synucleinGaofeng Wang
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 82:283-9. 2008..We propose this is likely to be a common mechanism of genetic modulation of individual susceptibility to complex disease... - Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasisTricia A Thornton-Wells
Biobehavioral Intervention Training Program, Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University Institute for Imaging Science, Vanderbilt University, Nashville, Tennessee 37203, USA
Genet Epidemiol 32:187-203. 2008..Further studies are needed to replicate these statistical findings and to elucidate possible biological interaction mechanisms between LRRTM3 and these genes... - Increased efficiency of case-control association analysis by using allele-sharing and covariate informationSilke Schmidt
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Hum Hered 65:154-65. 2008.... - Investigation of potential gene-gene interactions between APOE and RELN contributing to autism riskAllison E Ashley-Koch
Center for Human Genetics, Department of Medicine, Duke University Medical Center, Snyderman Genomic Sciences Building, Durham, NC 27710, USA
Psychiatr Genet 17:221-6. 2007..RELN shares a common biological pathway with APOE, and Persico et al. have observed transmission distortion of the APOE-2 allele in autism families... - Effect of heterogeneity on the chromosome 10 risk in late-onset Alzheimer diseaseXueying Liang
Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, USA
Hum Mutat 28:1065-73. 2007..However, the candidate gene and linkage analysis results did not converge, suggesting that there is more extensive heterogeneity on chromosome 10 than previously appreciated... - Methods for interaction analyses using family-based case-control data: conditional logistic regression versus generalized estimating equationsDana B Hancock
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
Genet Epidemiol 31:883-93. 2007..g., population stratification) and the interpretation of its OR estimates... - Smoking, caffeine, and nonsteroidal anti-inflammatory drugs in families with Parkinson diseaseDana B Hancock
Center for Human Genetics and Department of Medicine, Duke University Medical Center, Durham, NC, USA
Arch Neurol 64:576-80. 2007..To assess associations between Parkinson disease (PD) and putatively protective factors-smoking, caffeine (coffee, tea, and soft drinks), and nonsteroidal anti-inflammatory drugs (aspirin, ibuprofen, and naproxen)... - Interpreting analyses of continuous covariates in affected sibling pair linkage studiesSilke Schmidt
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Genet Epidemiol 31:541-52. 2007..They suggest that the side-by-side evaluation of OSA and QTL results may provide important information about the relationship of measured covariates with either disease risk or linkage heterogeneity... - Disease associations and family-based testsWarren J Ewens
University of Pennsylvania, Philadelphia, Pennsylvania, USA
Curr Protoc Hum Genet . 2008..The unit includes the Sib TDT (S-TDT) method, which allows application of the principle of the TDT to sibships without parental data, and several related tests... - Parsing the genetic heterogeneity of chromosome 12q susceptibility genes for Alzheimer disease by family-based association analysisPing-I Lin
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
Neurogenetics 7:157-65. 2006..0026). These results suggest that subset and covariate analyses may be one approach to help identify novel susceptibility genes on chromosome 12q for LOAD... - Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson diseaseJoelle M van der Walt
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 74:1121-7. 2004..0003), whereas a second haplotype (A-G-G-G-C) was found to be negatively associated with risk of PD (P=.0009). Our results strongly support FGF20 as a risk factor for PD... - Adjusting for covariates on a slippery slope: linkage analysis of change over timeEvadnie Rampersaud
Section of Medical Genetics, Department of Medicine, Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA
BMC Genet 4:S50. 2003.... - Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson diseaseYi Ju Li
Department of Medicine, Center for Human Genetics, Institute for Genome Science and Policy, Duke University Medical Center, Box 3445, Durham, NC 27710, USA
Hum Mol Genet 12:3259-67. 2003..This is provocative given reports of the possible role of inflammation in these two neurodegenerative disorders... - The Q7R Saitohin gene polymorphism is not associated with Alzheimer diseaseSofia A Oliveira
Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Box 3445, Duke University Medical Center, Durham, NC 27710, USA
Neurosci Lett 347:143-6. 2003..We found no evidence of significant association of this polymorphism with risk of AD using family-based and case-control tests of association... - Association study of Parkin gene polymorphisms with idiopathic Parkinson diseaseSofia A Oliveira
Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University Medical Center, Durham, NC
Arch Neurol 60:975-80. 2003..CONCLUSIONS: These results suggest that these common variants of Parkin are not associated with PD in white patients, although Parkin mutations are known to cause early- and late-onset PD... - Parkin mutations and susceptibility alleles in late-onset Parkinson's diseaseSofia A Oliveira
Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University Medical Center, Durham, NC 27710, USA
Ann Neurol 53:624-9. 2003..These findings suggest that mutations in Parkin contribute to the common form of PD and that heterozygous mutations, especially those lying in exon 7, act as susceptibility alleles for late-onset form of Parkinson disease... - Mitochondrial polymorphisms significantly reduce the risk of Parkinson diseaseJoelle M van der Walt
Department of Medicine, and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 72:804-11. 2003..45; 95% CI 0.22-0.93; P=.03). Our results suggest that ND3 is an important factor in PD susceptibility among white individuals and could help explain the role of complex I in PD expression... - Association of ulcerative colitis with the inflammatory bowel disease susceptibility locus IBD2 in non-Jewish Caucasians and evidence of genetic heterogeneity among racial and ethnic populations with Crohn diseaseSonja M S Uthoff
Price Institute of Surgical Research, Department of Surgery, University of Louisville School of Medicine, Louisville, KY 40292, USA
Am J Med Genet 113:242-9. 2002..These data indicate that there may be significant genetic heterogeneity between different ethnic and racial IBD populations or may simply reflect differences in marker allele frequencies among populations... - Multiple susceptibility loci for multiple sclerosisJonathan L Haines
Program in Human Genetics, Vanderbilt University Medical Center, Nashville, TN 37232, USA
Hum Mol Genet 11:2251-6. 2002..These regions can now be targeted for detailed study to identify the underlying MS susceptibility genes... - Analysis of European mitochondrial haplogroups with Alzheimer disease riskJoelle M van der Walt
Department of Medicine, Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Neurosci Lett 365:28-32. 2004..We suggest that variations within haplogroup U may be involved in AD expression in combination with environmental exposures or nuclear proteins other than APOE... - Comprehensive association analysis of APOE regulatory region polymorphisms in Alzheimer diseaseKristin K Nicodemus
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Neurogenetics 5:201-8. 2004..In conclusion, SNPs +5361, or a SNP in strong linkage disequilibrium, may confer some additional risk for developing AD beyond the risk due to APOE-4; however, the effect independent of APOE-4 is likely to be small... - Linkage analysis with gene-environment interaction: model illustration and performance of ordered subset analysisSilke Schmidt
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Genet Epidemiol 30:409-22. 2006.... - Lack of association between autism and SLC25A12Raquel Rabionet
Center for Human Genetics, Department of Medicine, Duke University Medical Center, 595 LaSalle St, Durham, NC 27710, USA
Am J Psychiatry 163:929-31. 2006..This study aimed to test for association in SLC25A12 in an independent data set of 327 families with autistic offspring... - Genetic association tests based on ranks (GATOR) for quantitative traits with and without censoringAndrew S Allen
Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina 27710, USA
Genet Epidemiol 30:248-58. 2006..The power and efficacy of the approach is illustrated through a series of simulation experiments in which the approach is compared to existing methods... - Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missingAbee L Boyles
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Hum Hered 59:220-7. 2005..Given the increasing popularity of high-density genome-wide SNP screens, inter-marker LD should be a concern in future linkage studies... - Maternal lineages and Alzheimer disease risk in the Old Order AmishJoelle M van der Walt
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Hum Genet 118:115-22. 2005..Therefore, we suggest that the genetic effect responsible for AD dementia in the affected Amish pedigrees is unlikely to be of mitochondrial origin and may be caused by nuclear genetic factors... - The ubiquilin 1 gene and Alzheimer's diseaseMichael A Slifer
N Engl J Med 352:2752-3; author reply 2752-3. 2005 - Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseasesYi Ju Li
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Box 3445, Durham, NC 27710, USA
Neurobiol Aging 27:1087-93. 2006..These findings suggest the presence of genetic heterogeneity for GSTO1h's effect on AAO, and support GSTO1h's role in modifying AAO in these two disorders... - Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genesRaquel Rabionet
Department of Medicine, Center for Human Genetics, 595 LaSalle St, Box 3445, Duke University Medical Center, Durham, NC 27710, USA
Neurosci Lett 372:209-14. 2004.... - Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotypeSofia A Oliveira
Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
Neurogenetics 5:147-55. 2004..02). These results define the genes and regulatory regions included in this region of LD, containing an important susceptibility allele contributing to increased risk of neurodegeneration... - Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosisSilke Schmidt
Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 70:708-17. 2002..03), whereas a higher proportion of APOE-2 carriers exhibit a mild disease course (P=.02)...