Genomes and Genes
- The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's diseaseCarmen Antunez
Department of Structural Genomics, Neocodex, Avda, Charles Darwin, Sevilla, s n 41092, Spain
Genome Med 3:33. 2011..In order to identify novel loci associated with Alzheimer's disease (AD), we conducted a genome-wide association study (GWAS) in the Spanish population...
- An entropy test for single-locus genetic association analysisManuel Ruiz-Marín
Department of Quantitative Methods, Technical University of Cartagena, Paseo Alfonso XIII, 50, 30203, Cartagena, Spain
BMC Genet 11:19. 2010..The identification of these small-effect contributing factors is still a demanding task. Clearly, there is a need for more powerful tests of genetic association, and especially for the identification of rare effects..
- Methylation alterations are not a major cause of PTTG1 misregulationManuel Hidalgo
Service of General Surgery B, Hospital Universitario 12 de Octubre, Madrid, 28041, Spain
BMC Cancer 8:110. 2008..Despite the clinical relevance and the increasing molecular characterization of PTTG1, the reason for its up-regulation remains unclear...
- Interaction between Calpain 5, Peroxisome proliferator-activated receptor-gamma and Peroxisome proliferator-activated receptor-delta genes: a polygenic approach to obesityMaria E Saez
Departamento de Genomica Estructural, Neocodex, C, Charles Darwin 6, Acc A, 41092, Sevilla, Spain
Cardiovasc Diabetol 7:23. 2008..Obesity is a multifactorial disorder, that is, a disease determined by the combined effect of genes and environment. In this context, polygenic approaches are needed...
- The CAPN10 gene is associated with insulin resistance phenotypes in the Spanish populationMaria E Saez
Neocodex, Departamento de Genomica Estructural, Seville, Spain
PLoS ONE 3:e2953. 2008..Our results suggest that CAPN10 gene is associated with insulin resistance phenotypes in the Spanish population...
- Human controlled ovarian hyperstimulation outcome is a polygenic traitFrancisco De Castro
Unidad de Reproducción Humana Asistida, Hospital Universitario Principe de Asturias, Alcala de Henares, Madrid, Allat Médica, Madrid and Departamento de Genómica Estructural Neocodex, Sevilla, Spain
Pharmacogenetics 14:285-93. 2004..The existence of genetic heterogeneity is also suspected...
- WWOX gene is associated with HDL cholesterol and triglyceride levelsMaria E Saez
Departamento de Genomica Estructural, Neocodex, 41092 Sevilla, Spain
BMC Med Genet 11:148. 2010..This gene is located at chromosome 16q23, a region previously linked to familial combined hyperlipidemia (FCHL) and HDL. Our objective is to perform a genetic association analysis at the WWOX gene region with HDL, TG and TG/HDL ratio...
- Genetic structure of the Spanish populationJavier Gayan
Department of Structural Genomics, Neocodex, Sevilla, Spain
BMC Genomics 11:326. 2010..Genetic admixture is a common caveat for genetic association analysis. Therefore, it is important to characterize the genetic structure of the population under study to control for this kind of potential bias...
- The MTHFD1L gene rs11754661 marker is not associated with Alzheimer's disease in a sample of the Spanish populationReposo Ramirez-Lorca
Department of Structural Genomics, Neocodex, Sevilla, Spain
J Alzheimers Dis 25:47-50. 2011..We have carried out an independent study of this genetic variant in 2467 individuals from Spain. We found no evidence of association between the MTHFD1L marker and susceptibility to Alzheimer's disease in our sample...
- A method for detecting epistasis in genome-wide studies using case-control multi-locus association analysisJavier Gayan
Neocodex, Avda, Charles Darwin 6, ACC, A, 41092 Sevilla, Spain
BMC Genomics 9:360. 2008..Some of these genetic effects may interact in complex ways, proving undetectable by current single-locus methodology...
- Sex and body mass index specific regulation of blood pressure by CYP19A1 gene variantsReposo Ramirez-Lorca
Departamento de Genomica Estructural, Neocodex, Parque Tecnológico Isla de la Cartuja, Sevilla, Spain
Hypertension 50:884-90. 2007..This effect is dependent on BMI and independent of menopause status, suggesting that this action is mainly driven by aromatase activity in fat tissue...
- Bone morphogenetic protein 15 (BMP15) alleles predict over-response to recombinant follicle stimulation hormone and iatrogenic ovarian hyperstimulation syndrome (OHSS)Francisco J Moron
Departamento de Genomica Estructural, Neocodex, Avda Charles Darwin s n, Parque Tecnológico Isla de la Cartuja, 41092 Seville, Spain
Pharmacogenet Genomics 16:485-95. 2006..We performed a pharmacogenetic analysis of bone morphogenetic protein 15 (BMP15) gene using single nucleotide polymorphisms (SNPs) in COS. We also investigated the role of the BMP15 gene in ovarian hyperstimulation syndrome (OHSS)...
- Association analysis of urotensin II gene (UTS2) and flanking regions with biochemical parameters related to insulin resistanceMaria E Saez
Department of Structural Genomics, Neocodex, Sevilla, Spain
PLoS ONE 6:e19327. 2011..UII exerts a broad spectrum of actions in several systems such as vascular cell, heart muscle or pancreas, where it inhibits insulin release...
- Association of NOS3 gene with metabolic syndrome in hypertensive patientsMaria Luisa Fernandez
Servicio de Medicina Interna, Hospital de Valme, Seville, Spain
Thromb Haemost 92:413-8. 2004..011). These data suggest a role of the NOS3 gene in the pathogenesis of metabolic syndrome in hypertensive patients...
- A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysisLuis M Real
Department of Structural Genomics, Neocodex, Seville, Spain Infectious Diseases and Microbiology Unit, Hospital Nuestra Señora de Valme, Seville, Spain Institute of Biomedicine of Seville IBiS, Seville, Spain
PLoS ONE 9:e101178. 2014..The aim of this work was to search for genetic risk factors for CRC, by performing single-locus and two-locus GWAS in the Spanish population...
- "Does replication groups scoring reduce false positive rate in SNP interaction discovery? Response"Javier Gayan
Neocodex, Avda, Charles Darwin 6, 41092 Sevilla, Spain
BMC Genomics 11:403. 2010..A recent article has claimed that the use of multiple replication groups (as implemented in HFCC) does not reduce the false positive rate, and we hereby try to clarify these issues...
- Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1Fuencisla Matesanz
Unidad de Esclerosis Multiple, Hospital Virgen Macarena, Sevilla, Spain
PLoS ONE 7:e36140. 2012..Although it is unclear whether both signals are tapping the same genetic association, it seems clear that this locus plays an important role in the pathogenesis of MS...
- Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levelsMaria E Saez
Departamento de Genomica Estructural, Neocodex, Sevilla, Spain
BMC Med Genet 8:1. 2007....
- Multilocus analysis of estrogen-related genes in Spanish postmenopausal women suggests an interactive role of ESR1, ESR2 and NRIP1 genes in the pathogenesis of osteoporosisFrancisco Jesus Moron
Departamento de Genomica Estructural, Neocodex, Avda, Charles Darwin sn, Parque Tecnológico Isla de la Cartuja, 41092 Sevilla, and Servicio de Ginecología y Obsetricia, Hospital Universitario Virgen de las Nieves, Granada, Spain
Bone 39:213-21. 2006..Our results reaffirm the polygenic nature and the genetic complexity of osteoporosis trait adding a new candidate gene (NRIP1) for association studies of bone-related traits...
- Pyrosequencing protocol using a universal biotinylated primer for mutation detection and SNP genotypingJose Luis Royo
Departamento de Genomica Estructural, Neocodex SL, Avda Charles Darwin 6, Acc A, 41092 Sevilla, Spain
Nat Protoc 2:1734-9. 2007..Once the correct primer stoichiometry has been determined, the assay takes around 2 h for PCR amplification, followed by 15-20 min (per plate) to obtain the genotypes...
- Pyrosequencing protocol requiring a unique biotinylated primerJose Luis Royo
Departamento de Genomica Estructural, Neocodex SL, Sevilla, Spain
Clin Chem Lab Med 44:435-41. 2006..Pyrosequencing is a versatile technique allowing an easy 96-well typing format. However, every polymorphism requires a specific labeled primer to generate a single-stranded DNA fragment containing the region of interest...
- Controlled ovarian hyperstimulation pharmacogenetics: a simplified model to genetically dissect estrogen-related diseasesFrancisco Jesus Moron
Parque Científico y Tecnológico Isla de la Cartuja, Departamento de Genomica Estructural, Neocodex, C Charles Darwin sn, 41092 Sevilla, Spain
Pharmacogenomics 8:775-85. 2007..The theory that estrogen-related diseases may share some risk factors with controlled ovarian hyperstimulation efficacy, and side effects linked to genetic markers, is discussed...
- The therapeutic potential of the calpain family: new aspectsMaria E Saez
Department of Structural Genomics, Neocodex, Centro de Negocios Charles Darwin s n, Isla de la Cartuja, 41092 Sevilla, Spain
Drug Discov Today 11:917-23. 2006..g. Parkinson's disease and Duchenne muscular dystrophy). Conversely, calpain activators could be a useful approach for those diseases where reduced calpain activity has been observed, such as type 2 diabetes or metabolic syndrome...
- Genetic and genomic insights into age at natural menopauseFrancisco Jesus Moron
Department of Structural Genomics, Neocodex SL, Avda, Charles Darwin 6, Acceso A, Isla de la Cartuja, 41092, Sevilla, Spain
Genome Med 1:76. 2009..In this minireview we comment on the latest genetics and genomics insights into age at natural menopause...
- Genes and hepatitis C: susceptibility, fibrosis progression and response to treatmentManuel Romero-Gomez
Unit for the Clinical Management of Digestive Diseases and CIBEREHD, Hospital Universitario de Valme, Sevilla, Spain
Liver Int 31:443-60. 2011..However, nearly half of patients achieving SVR did not show favourable genotype. Further genetic signals are warranted to complete the puzzle of factors influencing hepatitis C...
- Pharmacogenetics of controlled ovarian hyperstimulation: time to corroborate the clinical utility of FSH receptor genetic markersFrancisco Jesus Moron
Department of Structural Genomics, Neocodex, Calle Charles Darwin sn, Parque, Científico y Tecnológico Isla de la Cartuja, 41092, Seville, Spain
Pharmacogenomics 11:1613-8. 2010....
- Analysis of the ERalpha germline PvuII marker in breast cancer riskRosario González-Mancha
Medical Oncology Service, Hospital Virgen del Rocio, Seville, Spain
Med Sci Monit 14:CR136-43. 2008..Variation in the estrogen receptor gene PvuII has been associated with an increased risk of developing breast cancer. However, some studies suggest that its effect might be constrained to a definite subgroup of patients...
- Genetic analysis of CAV1 gene in hypertension and metabolic syndromeAntonio Grilo
Servicio de Medicina Interna, Hospital de Valme, Sevilla, Spain
Thromb Haemost 95:696-701. 2006..Moreover, it was a genetic protection factor against MS in hypertensive patients. In addition, we found no evidence of gene-gene interaction between NOS3 and CAV1 genes with regard to that phenotype...
- A truncating mutation in Alzheimer's disease inactivates neuroligin-1 synaptic functionEnriqueta Tristán-Clavijo
Instituto de Biomedicina de Sevilla IBiS, Hospital Universitario Virgen del Rocío CSIC Universidad de Sevilla, Sevilla, Spain Departamento de Fisiología Médica y Biofísica, Facultad de Medicina, Universidad de Sevilla, Sevilla, Spain
Neurobiol Aging 36:3171-5. 2015..Therefore, together with a role in neurodevelopmental disorders, altered NL function could underlie the molecular mechanisms associated with brain diseases in the elderly. ..
- Multilocus analyses of estrogen-related genes reveal involvement of the ESR1 gene in male infertility and the polygenic nature of the pathologyJose J Galan
Department of Structural Genomics, Neocodex, Seville, Spain
Fertil Steril 84:910-8. 2005..To examine whether polymorphisms within the ESR1, FSHR, ESR2, CYP19A1, and NRIP1 genes are susceptibility factors for human male idiopathic infertility and to test the joint effects of these genes on male reproductive function...