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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. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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:

  9. 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:

  10. 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:

  11. 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:

  12. 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:

  14. 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:

  15. 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:

  16. 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:

  17. 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:

  18. 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:

  20. 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:

  21. 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:

  22. 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:

  23. 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:

  24. 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:

  25. 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:

  26. 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:

  27. 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:

  28. 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:

  29. 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:

  32. 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:

  33. 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:

  34. 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:

  37. The Tnfrh1 gene (gene symbol Tnfrsf23) is located near one end of a megabase-scale imprinted region on mouse distal chromosome 7, about 350 kb distant from the nearest known imprinting control element. Within 20 ...

    Authors: Lorraine Clark, Michelle Wei, Giorgio Cattoretti, Cathy Mendelsohn and Benjamin Tycko
    Citation: BMC Genetics 2002 3:37
    Content type: Research article Published on:

  39. A close association between Sst I polymorphism in the 3' untranslated region of the apolipoproteinC3 (APOC3 ) gene and levels of plasma triglycerides (TG) had been reported by different investigators. Hypertrigly...

    Authors: S Chhabra, R Narang, LR Krishnan, S Vasisht, DP Agarwal, LM Srivastava, SC Manchanda and N Das
    Citation: BMC Genetics 2002 3:9
    Content type: Research article Published on:

  41. Pairs of related individuals are widely used in linkage analysis. Most of the tests for linkage analysis are based on statistics associated with identity by descent (IBD) data. The current biotechnology provid...

    Authors: Valeri T Stefanov
    Citation: BMC Genetics 2002 3:7
    Content type: Research article Published on:

  43. Amyotrophic lateral sclerosis (ALS) is a progressive lethal disorder of large motor neurons of the spinal cord and brain. In approximately 20% of the familial and 2% of sporadic cases the disease is due to a d...

    Authors: Asli N Silahtaroglu, Karen Brondum-Nielsen, Ole Gredal, Lene Werdelin, Marios Panas, Michael B Petersen, Niels Tommerup and Zeynep Tümer
    Citation: BMC Genetics 2002 3:5
    Content type: Research article Published on:

  44. The Mitotic Exit Network (MEN) proteins – including the protein kinase Cdc15 and the protein phosphatase Cdc14 – are essential for exit from mitosis in Saccharomyces cerevisiae. To identify downstream targets of ...

    Authors: Wenying Shou and Raymond J Deshaies
    Citation: BMC Genetics 2002 3:4
    Content type: Research article Published on:

  45. To learn about the molecular etiology of strabismus, we are studying the genetic basis of 'congenital fibrosis of the extraocular muscles' (CFEOM). These syndromes are characterized by congenital restrictive o...

    Authors: Elizabeth C Engle, Nathalie McIntosh, Koki Yamada, Bjorn A Lee, Roger Johnson, Michael O'Keefe, Robert Letson, Arnold London, Evan Ballard, Mark Ruttum, Naomichi Matsumoto, Nakamichi Saito, Mary Louise Z Collins, Lisa Morris, Del Monte Monte, Adriano Magli…
    Citation: BMC Genetics 2002 3:3
    Content type: Research article Published on:

  46. The metalloprotease-disintegrin family, or ADAM, proteins, are implicated in cell-cell interactions, cell fusion, and cell signaling, and are widely distributed among metazoan phyla. Orthologous relationships ...

    Authors: Teresa M Gunn, Arezou Azarani, Philip H Kim, Richard W Hyman, Ronald W Davis and Gregory S Barsh
    Citation: BMC Genetics 2002 3:2
    Content type: Research article Published on:

  47. Polymorphisms in the gene that encodes the human cellular receptor for group B coxsackieviruses and adenoviruses (HCAR) could be responsible for differences in susceptibility to infections with these pathogens...

    Authors: Inge Thoelen, Griet Duson, Elke Wollants and Marc Van Ranst
    Citation: BMC Genetics 2002 3:27
    Content type: Research article Published on:

  48. Proximal chromosome 15q is implicated in neurodevelopmental disorders including Prader-Willi and Angelman syndromes, autistic disorder and developmental abnormalities resulting from chromosomal deletions or du...

    Authors: Thea K Chibuk, Jocelyn M Bischof and Rachel Wevrick
    Citation: BMC Genetics 2001 2:22
    Content type: Research article Published on:

  49. Recent progress in insect transgenesis has been dramatic but existing transposon-based approaches are constrained by position effects and potential instability. Gene targeting would bring a number of benefits,...

    Authors: Paul Eggleston and Yuguang Zhao
    Citation: BMC Genetics 2001 2:21
    Content type: Research article Published on:

  50. The NUP98 gene is involved in multiple rearrangements in haematological malignancy. The leukemic cells in an acute myeloid leukemia (AML) patient with a t(9;11)(p22;p15) were recently shown to have a fusion betwe...

    Authors: Damian J Hussey, Sarah Moore, Mario Nicola and Alexander Dobrovic
    Citation: BMC Genetics 2001 2:20
    Content type: Research article Published on:
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