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  1. Because high blood pressure, altered lipid levels, obesity, and diabetes so frequently occur together, they are sometimes collectively referred to as the metabolic syndrome. While there have been many studies ...

    Authors: Matthew B McQueen, Lars Bertram, Eric B Rimm, Deborah Blacker and Susan L Santangelo
    Citation: BMC Genetics 2003 4(Suppl 1):S96
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  2. The multiple metabolic syndrome is defined by a clustering of risk factors for cardiovascular disease. We sought to evaluate the familial correlations of the components of the syndrome using data from the Fram...

    Authors: Kristine E Lee, Barbara EK Klein and Ronald Klein
    Citation: BMC Genetics 2003 4(Suppl 1):S94
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  3. Genes have been found to influence the age of onset of several diseases and traits. The occurrence of many chronic diseases, obesity included, appears to be strongly age-dependent. However, an analysis of pote...

    Authors: Corinne D Engelman, Heather L Brady, Anna E Baron and Jill M Norris
    Citation: BMC Genetics 2003 4(Suppl 1):S90
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  4. Systolic blood pressure (SBP) is an age-dependent complex trait for which both environmental and genetic factors may play a role in explaining variability among individuals. We performed a genome-wide scan of ...

    Authors: Dushanthi Pinnaduwage, Joseph Beyene and Shafagh Fallah
    Citation: BMC Genetics 2003 4(Suppl 1):S86
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  5. Genetic studies of complex disorders such as hypertension often utilize families selected for this outcome, usually with information obtained at a single time point. Since age-at-onset for diagnosed hypertensi...

    Authors: Karen A Kopciuk, Laurent Briollais, Florence Demenais and Shelley B Bull
    Citation: BMC Genetics 2003 4(Suppl 1):S84
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  6. A genome-wide linkage scan was performed on Replicate 1 of the simulated data for fasting triglyceride levels. The aim of this study was to implement mixed-model methodology to estimate breeding values for eac...

    Authors: Delilah Zabaneh and Ian J Mackay
    Citation: BMC Genetics 2003 4(Suppl 1):S61
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  7. There are no well accepted criteria for the diagnosis of the metabolic syndrome. However, the metabolic syndrome is identified clinically by the presence of three or more of these five variables: larger waist ...

    Authors: Curtis Olswold and Mariza de Andrade
    Citation: BMC Genetics 2003 4(Suppl 1):S57
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  8. Multivariate variance-components analysis provides several advantages over univariate analysis when studying correlated traits. It can test for pleiotropy or (in the longitudinal context) gene × age interactio...

    Authors: Peter Kraft, Lara Bauman, Jin Ying Yuan and Steve Horvath
    Citation: BMC Genetics 2003 4(Suppl 1):S55
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  9. A standard multivariate principal components (PCs) method was utilized to identify clusters of variables that may be controlled by a common gene or genes (pleiotropy). Heritability estimates were obtained and ...

    Authors: Jeannette T Bensen, Leslie A Lange, Carl D Langefeld, Bao-Li Chang, Eugene R Bleecker, Deborah A Meyers and Jianfeng Xu
    Citation: BMC Genetics 2003 4(Suppl 1):S53
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  10. We propose a statistical method that includes the use of longitudinal regression models and estimation procedures for adjusting for covariate effects in applying the Haseman-Elston (HE) method for linkage anal...

    Authors: Colin O Wu, Gang Zheng, Eric Leifer, Dean Follmann and Jing-Ping Lin
    Citation: BMC Genetics 2003 4(Suppl 1):S51
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  11. Family-based association testing is an important part of genetic epidemiology. Tests are available to include multiple siblings, unaffected offspring, and to adjust for environmental covariates. We explore a s...

    Authors: Laila M Poisson, Benjamin A Rybicki, Steven W Coon, Jill S Barnholtz-Sloan and Gary A Chase
    Citation: BMC Genetics 2003 4(Suppl 1):S49
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  12. Genetic heterogeneity and complex biologic mechanisms of blood pressure regulation pose significant challenges to the identification of susceptibility loci influencing hypertension. Previous linkage studies ha...

    Authors: Denise Daley, Shannon R Edwards, Yeunjoo Song, Dan Baechle, Sobha Puppala, JH Schick, Jane M Olson and Katrina AB Goddard
    Citation: BMC Genetics 2003 4(Suppl 1):S45
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  13. Missing data are a great concern in longitudinal studies, because few subjects will have complete data and missingness could be an indicator of an adverse outcome. Analyses that exclude potentially informative...

    Authors: Terri Kang, Peter Kraft, W James Gauderman and Duncan Thomas
    Citation: BMC Genetics 2003 4(Suppl 1):S43
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  14. Informative missingness of parental genotype data occurs when the genotype of a parent influences the probability of the parent's genotype data being observed. Informative missingness can occur in a number of ...

    Authors: Andrew S Allen, Julianne S Collins, Paul J Rathouz, Craig L Selander and Glen A Satten
    Citation: BMC Genetics 2003 4(Suppl 1):S39
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  15. Longitudinal data often have multiple (repeated) measures recorded along a time trajectory. For example, the two cohorts from the Framingham Heart Study (GAW13 Problem 1) contain 21 and 5 repeated measures for...

    Authors: Shaoqi Rao, Lin Li, Xia Li, Kathy L Moser, Zheng Guo, Gongqing Shen, Ruth Cannata, Erich Zirzow, Eric J Topol and Qing Wang
    Citation: BMC Genetics 2003 4(Suppl 1):S24
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  16. Family studies are often conducted in a cross-sectional manner without long-term follow-up data. The relative contribution of a gene to a specific trait could change over the lifetime. The Framingham Heart Stu...

    Authors: Rong Cheng, Naeun Park, Susan E Hodge and Suh-Hang Hank Juo
    Citation: BMC Genetics 2003 4(Suppl 1):S20
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  17. Gene × environment models are widely used to assess genetic and environmental risks and their association with a phenotype of interest for many complex diseases. Mixed generalized linear models were used to as...

    Authors: Jill S Barnholtz-Sloan, Laila M Poisson, Steven W Coon, Gary A Chase and Benjamin A Rybicki
    Citation: BMC Genetics 2003 4(Suppl 1):S18
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  18. There has been a lack of consistency in detecting chromosomal loci that are linked to obesity-related traits. This may be due, in part, to the phenotype definition. Many studies use a one-time, single measurem...

    Authors: Lisa Strug, Lei Sun and Mary Corey
    Citation: BMC Genetics 2003 4(Suppl 1):S14
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  19. The study of change in intermediate phenotypes over time is important in genetics. In this paper we explore a new approach to phenotype definition in the genetic analysis of longitudinal phenotypes. We utilize...

    Authors: Lyle J Palmer, Katrina J Scurrah, Martin Tobin, Sanjay R Patel, Juan C Celedon, Paul R Burton and Scott T Weiss
    Citation: BMC Genetics 2003 4(Suppl 1):S12
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  20. Complex diseases are generally caused by intricate interactions of multiple genes and environmental factors. Most available linkage and association methods are developed to identify individual susceptibility g...

    Authors: Sung Kim, Kui Zhang and Fengzhu Sun
    Citation: BMC Genetics 2003 4(Suppl 1):S9
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  21. The Genetic Analysis Workshop 13 simulated data aimed to mimic the major features of the real Framingham Heart Study data that formed Problem 1, but under a known inheritance model and with 100 replicates, so ...

    Authors: E Warwick Daw, John Morrison, Xiaojun Zhou and Duncan C Thomas
    Citation: BMC Genetics 2003 4(Suppl 1):S3
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 4 Supplement 1

  22. Since the cloning in 1990 of cDNA corresponding to mRNA transcribed at the blood-group ABO locus, polymorphisms due to ethnic and/or phenotypic variations have been reported. Some subgroups have been explained...

    Authors: Bahram Hosseini-Maaf, Ã…sa Hellberg, Maria J Rodrigues, M Alan Chester and Martin L Olsson
    Citation: BMC Genetics 2003 4:17
    Content type: Research article Published on:

  23. Anopheles gambiae females are the world's most successful vectors of human malaria. However, a fraction of these mosquitoes is refractory to Plasmodium development. L3-5, a laboratory selected refractory strain, ...

    Authors: Liangbiao Zheng, Shuang Wang, Patricia Romans, Hongyu Zhao, Coralia Luna and Mark Q Benedict
    Citation: BMC Genetics 2003 4:16
    Content type: Research article Published on:

  24. World-wide phylogeographic distribution of human complete mitochondrial DNA sequences suggested a West Asian origin for the autochthonous North African lineage U6. We report here a more detailed analysis of th...

    Authors: Nicole Maca-Meyer, Ana M González, José Pestano, Carlos Flores, José M Larruga and Vicente M Cabrera
    Citation: BMC Genetics 2003 4:15
    Content type: Research article Published on:

  25. Aberrant and non-functional RHD alleles are much more frequent in Africans than in Europeans. The DAU cluster of RHD alleles exemplifies that the alleles frequent in Africans have evaded recognition until recentl...

    Authors: Franz F Wagner, Joann M Moulds, Anatole Tounkara, Bourema Kouriba and Willy A Flegel
    Citation: BMC Genetics 2003 4:14
    Content type: Research article Published on:

  26. SP-A, SP-B, and SP-D are pulmonary surfactant proteins. Several linkage and association studies have been done using these genes as markers to locate pulmonary disease susceptibility genes, but few have studie...

    Authors: Wenlei Liu, Christy M Bentley and Joanna Floros
    Citation: BMC Genetics 2003 4:13
    Content type: Research article Published on:

  28. The ARE insertion/deletion polymorphism of PPP1R3A has been associated with variation in glycaemic parameters and prevalence of diabetes. We have investigated its role in age of diagnosis, body weight and glycaem...

    Authors: Alex SF Doney, Bettina Fischer, Joanne E Cecil, Patricia TW Cohen, Douglas I Boyle, Graham Leese, Andrew D Morris and Colin NA Palmer
    Citation: BMC Genetics 2003 4:11
    Content type: Research article Published on:

  29. It has been reported in the quantitative trait locus (QTL) literature that when testing for QTL location and effect, the statistical power supporting methodologies based on two markers and their estimated gene...

    Authors: Cynthia J Coffman, RW Doerge, Marta L Wayne and Lauren M McIntyre
    Citation: BMC Genetics 2003 4:10
    Content type: Methodology article Published on:

  30. Cul1 is a core component of the evolutionarily conserved SCF-type ubiquitin ligases that target specific proteins for destruction. SCF action contributes to cell cycle progression but few of the key targets of...

    Authors: Jean-Karim Hériché, Dan Ang, Ethan Bier and Patrick H O'Farrell
    Citation: BMC Genetics 2003 4:9
    Content type: Research article Published on:

  31. Autosomal dominant optic atrophy type 1 (DOA) is the most common form of hereditary optic atrophy in human. We have previously identified the OPA1 gene and shown that it was mutated in patients with DOA. OPA1 is ...

    Authors: Cécile Delettre, Guy Lenaers, Pascale Belenguer and Christian P Hamel
    Citation: BMC Genetics 2003 4:8
    Content type: Research article Published on:

  32. Triglyceride/HDL cholesterol ratio (TG/HDL-C) is considered as a risk factor for cardiovascular events. Genetic components were important in controlling the variation in western countries. But the mode of inhe...

    Authors: Kuo-Liong Chien, Hsiu-Ching Hsu, Ta-Chen Su, Chi-Yu Yang and Yuan-Teh Lee
    Citation: BMC Genetics 2003 4:7
    Content type: Research article Published on:

  34. Mutations in the gene encoding human myocilin (MYOC) have been shown to cause juvenile- and adult-onset glaucoma. In addition, myocilin has been associated with glucocorticoid-induced ocular hypertension and ster...

    Authors: Allan R Shepard, Nasreen Jacobson, Ruifang Sui, H Thomas Steely, Andrew J Lotery, Edwin M Stone and Abbot F Clark
    Citation: BMC Genetics 2003 4:5
    Content type: Research article Published on:

  35. Copper is an essential trace element that plays a critical role in the survival of all living organisms. Menkes disease and occipital horn syndrome (OHS) are allelic disorders of copper transport caused by def...

    Authors: Po-Ching Liu, David M Koeller and Stephen G Kaler
    Citation: BMC Genetics 2003 4:4
    Content type: Research article Published on:

  36. Epstein-Barr virus (EBV) associated nasopharyngeal cancer (NPC) is an important squamous cell cancer endemic in Southeast Asia and the Far East and can be considered a multifactorial genetic disease. This rese...

    Authors: Rungnapa Hirunsatit, Narisorn Kongruttanachok, Kanjana Shotelersuk, Pakpoom Supiyaphun, Narin Voravud, Anavaj Sakuntabhai and Apiwat Mutirangura
    Citation: BMC Genetics 2003 4:3
    Content type: Research article Published on:

  37. Differential methylation of the two alleles is a hallmark of imprinted genes. Correspondingly, loss of DNA methyltransferase function results in aberrant imprinting and abnormal post-fertilization development....

    Authors: B E Hayward, M De Vos, H Judson, D Hodge, J Huntriss, H M Picton, E Sheridan and DT Bonthron
    Citation: BMC Genetics 2003 4:2
    Content type: Research article Published on:

  38. X-linked ocular albinism type 1 (OA1) is caused by mutations in OA1 gene, which encodes a membrane glycoprotein localised to melanosomes. OA1 mainly affects pigment production in the eye, resulting in optic chang...

    Authors: Valérie Faugère, Sylvie Tuffery-Giraud, Christian Hamel and Mireille Claustres
    Citation: BMC Genetics 2003 4:1
    Content type: Methodology article Published on:

  39. The traditional exact method for inferring relationships between individuals from genetic data is not easily applicable in all situations that may be encountered in several fields of applied genetics. This stu...

    Authors: Silvano Presciuttini, Chiara Toni, Elena Tempestini, Simonetta Verdiani, Lucia Casarino, Isabella Spinetti, Francesco De Stefano, Ranieri Domenici and Joan E Bailey-Wilson
    Citation: BMC Genetics 2002 3:23
    Content type: Research article Published on:

  40. Head and neck squamous cell carcinomas (HNSCC) have been causally associated with tobacco and alcohol exposure. However, 10–15% of HNSCC develop in absence of significant carcinogen exposure. Several lines of ...

    Authors: Bhuvanesh Singh, Volkert B Wreesmann, David Pfister, Ashok Poluri, Ashok R Shaha, Dennis Kraus, Jatin P Shah and Pulivarthi H Rao
    Citation: BMC Genetics 2002 3:22
    Content type: Research article Published on:

  41. Variation at the PPARG locus may influence susceptibility to type 2 diabetes and related traits. The Pro12Ala polymorphism may modulate receptor activity and is associated with protection from type 2 diabetes. Ho...

    Authors: Alex Doney, Bettina Fischer, David Frew, Alastair Cumming, David M Flavell, Michael World, Hugh E Montgomery, Douglas Boyle, Andrew Morris and Colin NA Palmer
    Citation: BMC Genetics 2002 3:21
    Content type: Research article Published on:

  42. In sporadic ovarian cancer, we have previously reported allele loss at D6S193 (62%) on chromosome 6q27, which suggested the presence of a putative tumour suppressor gene. Based on our data and that from another g...

    Authors: Ying Liu, Phillippa Dodds, Gracy Emilion, Andrew J Mungall, Ian Dunham, Stephan Beck, Spencer R Wells, L F Mark Charnock and Trivadi S Ganesan
    Citation: BMC Genetics 2002 3:20
    Content type: Research article Published on:

  43. Recent studies of ancestral maize populations indicate that linkage disequilibrium tends to dissipate rapidly, sometimes within 100 bp. We set out to examine the linkage disequilibrium and diversity in maize e...

    Authors: Ada Ching, Katherine S Caldwell, Mark Jung, Maurine Dolan, Oscar S (Howie) Smith, Scott Tingey, Michele Morgante and Antoni J Rafalski
    Citation: BMC Genetics 2002 3:19
    Content type: Research article Published on:

  46. Ciliates employ massive chromatid breakage and de novo telomere formation during generation of the somatic macronucleus. Positions flanking the 81-MAC locus are reproducibly cut. But those flanking the Common Reg...

    Authors: Kevin R Williams, Thomas G Doak and Glenn Herrick
    Citation: BMC Genetics 2002 3:16
    Content type: Research article Published on:

  47. The COP9/signalosome (CSN), a multiprotein complex consisting of eight subunits, is implicated in a wide variety of regulatory processes including cell cycle control, signal transduction, transcriptional activ...

    Authors: Susan Wee, Bettina Hetfeld, Wolfgang Dubiel and Dieter A Wolf
    Citation: BMC Genetics 2002 3:41
    Content type: Research article Published on:

  48. To support the positional cloning of the mouse mutation wobbler (wr ) the corresponding regions on human Chr2p13-14 and mouse Chr11 were analyzed in detail and compared with respect to gene content, order, and or...

    Authors: Sonja Fuchs, Karin Resch, Cora Thiel, Michael Ulbrich, Matthias Platzer, Harald Jockusch and Thomas Schmitt-John
    Citation: BMC Genetics 2002 3:40
    Content type: Research article Published on:
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