Experts and Doctors on genetic predisposition to disease in Madrid, Spain


Locale: Madrid, Spain
Topic: genetic predisposition to disease

Top Publications

  1. Rubio N, Capa L. Differential IL-1 synthesis by astrocytes from Theiler's murine encephalomyelitis virus-susceptible and -resistant strains of mice. Cell Immunol. 1993;149:237-47 pubmed
  2. Villa Morales M, Santos J, Perez Gomez E, Quintanilla M, Fernandez Piqueras J. A role for the Fas/FasL system in modulating genetic susceptibility to T-cell lymphoblastic lymphomas. Cancer Res. 2007;67:5107-16 pubmed
  3. de Garibay G, Díaz A, Gaviña B, Romero A, Garre P, Vega A, et al. Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families. Eur J Hum Genet. 2013;21:883-6 pubmed publisher
    ..Overall, the study indicates that SLX4 mutation screening will have a very low impact (if any) in the genetic counseling of non-BRCA1/2 families. ..
  4. Ortiz Fernández L, García Lozano J, Montes Cano M, Conde Jaldón M, Ortego Centeno N, García Hernández F, et al. Lack of association of TNFAIP3 and JAK1 with Behçet's disease in the European population. Clin Exp Rheumatol. 2015;33:S36-9 pubmed
    ..The association of variants of the genes JAK1 and the TNFAIP3 with BD which has been described in the Chinese population was not replicated in Europeans. ..
  5. Perona R, Machado Pinilla R, Manguan C, Carrillo J. Telomerase deficiency and cancer susceptibility syndromes. Clin Transl Oncol. 2009;11:711-4 pubmed
    ..We here describe the biology of some of these diseases, together with the molecular modifications in the telomerase complex genes and the impact of these alterations on the development of particular types of cancer. ..
  6. Osorio A, Milne R, Alonso R, Pita G, Peterlongo P, Teulé A, et al. Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2. Br J Cancer. 2011;104:1356-61 pubmed publisher
    ..No evidence of association was found when the larger series was analysed which lead us to conclude that none of the three SNPs are significant modifiers of breast cancer risk for mutation carriers. ..
  7. Agúndez J, García Martín E, Martínez C, Benito León J, Millán Pascual J, Díaz Sánchez M, et al. Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Multiple Sclerosis. Sci Rep. 2016;6:20830 pubmed publisher
    ..The present study suggests a weak association between HMOX2 rs1051308 polymorphism and the risk to develop MS in Spanish Caucasian men and a trend towards association between the HMOX1 rs2071746A and MS risk. ..
  8. Day F, Thompson D, Helgason H, Chasman D, Finucane H, Sulem P, et al. Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. Nat Genet. 2017;49:834-841 pubmed publisher
    ..In aggregate, our findings highlight the complexity of the genetic regulation of puberty timing and support causal links with cancer susceptibility. ..
  9. Santiago J, Martinez A, Nunez C, de la Calle H, Fernandez Arquero M, De la Concha E, et al. Association of MYO9B haplotype with type 1 diabetes. Hum Immunol. 2008;69:112-5 pubmed publisher
    ..004; OR [95% confidence interval] = 0.68 [0.52-0.90]). Our data suggest an involvement of this MYO9B chromosomal region in T1D predisposition, indicating extensive influence on autoimmune diseases. ..

More Information

Publications220 found, 100 shown here

  1. Bleda S, De Haro J, Varela C, Esparza L, Ferruelo A, Acin F. Vascular endothelial growth factor polymorphisms are involved in the late vascular complications in Type II diabetic patients. Diab Vasc Dis Res. 2012;9:68-74 pubmed publisher
    ..002). The VEGF +405 genotype was not associated with diabetic vascular complications. This study provides preliminary evidence that VEGF polymorphisms are associated with a differential presentation of diabetic vascular complications. ..
  2. Fernandez L, Fernandez Arquero M, Gual L, Lazaro F, Maluenda C, Polanco I, et al. Triplet repeat polymorphism in the transmembrane region of the MICA gene in celiac disease. Tissue Antigens. 2002;59:219-22 pubmed
    ..1 ancestral haplotype in strong linkage disequilibrium with MICA A5.1 allele. ..
  3. Santiago J, Martinez A, de la Calle H, Fernandez Arquero M, De la Concha E, Urcelay E. Th1 cytokine polymorphisms in spanish patients with type 1 diabetes. Hum Immunol. 2005;66:897-902 pubmed
    ..58, p(c) = 0.0217). Furthermore, a protective IL12B haplotype was found (D5S2038*4/D5S1352*1/SNP1188A; OR = 0.40, p(c) = 0.0405). No association was found for any of IL12B and IFNG markers individually. ..
  4. Sanchez Muniz F, Maki K, Schaefer E, Ordovas J. Serum lipid and antioxidant responses in hypercholesterolemic men and women receiving plant sterol esters vary by apolipoprotein E genotype. J Nutr. 2009;139:13-9 pubmed publisher
    ..Thus, responses to plant sterols vary by ApoE genotype and may be of little value in ApoE4 carriers, who had reductions in serum carotenoid concentrations but not in TC, LDL-C, or ApoB. ..
  5. Cañadas V, Vilacosta I, Bruna I, Fuster V. Marfan syndrome. Part 1: pathophysiology and diagnosis. Nat Rev Cardiol. 2010;7:256-65 pubmed publisher
    ..Genetic testing can be useful in the diagnosis of selected cases. ..
  6. Blanco Kelly F, Alvarez Lafuente R, Alcina A, Abad Grau M, De Las Heras V, Lucas M, et al. Members 6B and 14 of the TNF receptor superfamily in multiple sclerosis predisposition. Genes Immun. 2011;12:145-8 pubmed publisher
    ..028, OR=1.13; TNFRSF14-rs6684865(*)A: overall P=0.0008, OR=1.2; and HHV6-positive patients vs controls: P=0.017, OR=1.69. ..
  7. Alvarez Navarro C, Lopez de Castro J. ERAP1 in ankylosing spondylitis: genetics, biology and pathogenetic role. Curr Opin Rheumatol. 2013;25:419-25 pubmed publisher
    ..The findings suggest that the pathogenetic role of ERAP1 in ankylosing spondylitis is due to allotype-dependent alterations of the HLA-B27 peptidome that affect the immunologic and other features of HLA-B27. ..
  8. de la Concha E, Fernandez Arquero M, Lopez Nava G, Martin E, Allcock R, Conejero L, et al. Susceptibility to severe ulcerative colitis is associated with polymorphism in the central MHC gene IKBL. Gastroenterology. 2000;119:1491-5 pubmed
    ..7% vs. 1.7% in patients with distal disease; odds ratio, 9.25; P = 0.01). HLA-DRB1(*)0103 is associated with susceptibility to ulcerative colitis, and IKBL+738(C) marks a propensity to extensive and more severe disease. ..
  9. Milne R, Goode E, García Closas M, Couch F, Severi G, Hein R, et al. Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer. Cancer Epidemiol Biomarkers Prev. 2011;20:2222-31 pubmed publisher
    ..5p12 is a breast cancer susceptibility locus for PR-positive, lower grade breast cancer. Multicenter fine-mapping studies of this region are needed as a first step to identifying the causal variant or variants. ..
  10. Glubb D, Maranian M, Michailidou K, Pooley K, Meyer K, Kar S, et al. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. Am J Hum Genet. 2015;96:5-20 pubmed publisher
    ..We propose that the cancer risk alleles act to increase MAP3K1 expression in vivo and might promote breast cancer cell survival. ..
  11. Roche O, Blanch A, Duponchel C, Fontan G, Tosi M, Lopez Trascasa M. Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort. Hum Mutat. 2005;26:135-44 pubmed
    ..This is the first evidence of SERPING1/C1NH mutations in coding regions that differ from the canonical splice sites that affect splicing, which suggests the presence of an exonic splicing enhancer (ESE) in exon 5. ..
  12. de Portugal E, Gonzalez N, Haro J, Autonell J, Cervilla J. A descriptive case-register study of delusional disorder. Eur Psychiatry. 2008;23:125-33 pubmed
    ..008). In the absence of other similar empirical data, this modest study provides unique empirical evidence of some clinical and risk correlates of DD and its subtypes. ..
  13. Casarejos M, Menendez J, Solano R, Rodriguez Navarro J, Garcia de Yebenes J, Mena M. Susceptibility to rotenone is increased in neurons from parkin null mice and is reduced by minocycline. J Neurochem. 2006;97:934-46 pubmed
    ..PK-KO mice were more susceptible than WT to ROT and the combined effects of Park-2 suppression and ROT reproduced the cellular events observed in Parkinson's disease. These events were prevented by minocycline. ..
  14. Ortiz P, Vanaclocha F, López Bran E, Esquivias J, López Estebaranz J, Martin Gonzalez M, et al. Genetic analysis of the GRM1 gene in human melanoma susceptibility. Eur J Hum Genet. 2007;15:1176-82 pubmed
    ..Only the second observation was confirmed (OR=1.69, CI=[1.16-2.47], P=0.0064). Our results suggest that the GRM1 gene may contribute to melanoma susceptibility in that specific group of patients. ..
  15. Isla D, Felip E, Viñolas N, Provencio M, Majem M, Artal A, et al. Lung Cancer in Women with a Family History of Cancer: The Spanish Female-specific Database WORLD07. Anticancer Res. 2016;36:6647-6653 pubmed
    ..Among Spanish women with lung cancer, a greater proportion were current smokers in those with a family history of cancer/lung cancer. There was a significant correlation between the presence of EGFR mutation and smoking. ..
  16. Nunez C, Marquez A, Varadé J, Martinez A, Polanco I, Maluenda C, et al. No evidence of association of the MYO9B polymorphisms with celiac disease in the Spanish population. Tissue Antigens. 2006;68:489-92 pubmed
    ..The family study revealed no distorted transmission of the aforementioned MYO9B polymorphisms or haplotypes. Our results support a negligible influence of this gene on CD predisposition. ..
  17. Bullido M, Martinez Garcia A, Tenorio R, Sastre I, Munoz D, Frank A, et al. Double stranded RNA activated EIF2 alpha kinase (EIF2AK2; PKR) is associated with Alzheimer's disease. Neurobiol Aging. 2008;29:1160-6 pubmed
    ..These results further support the hypothesis that variants of human genes participating in HSV-1 infection modulate the susceptibility and/or clinical manifestations of AD. ..
  18. Santos M, Ruiz S, Lara M, Segrelles C, Moral M, Martínez Cruz A, et al. Susceptibility of pRb-deficient epidermis to chemical skin carcinogenesis is dependent on the p107 allele dosage. Mol Carcinog. 2008;47:815-21 pubmed publisher
    ..We also observed a partial reduction in the levels of proapoptotic proteins in benign papillomas. These data confirm our previous suggestions on the role of p107 as a tumor suppressor in epidermis in the absence of pRb. ..
  19. Belda Iniesta C, Ibáñez de Cáceres I, Barriuso J, de Castro Carpeno J, Gonzalez Baron M, Feliu J. Molecular biology of pancreatic cancer. Clin Transl Oncol. 2008;10:530-7 pubmed
    ..This review will summarise recent advances in the molecular biology of pancreatic cancer. ..
  20. Dema B, Martinez A, Fernandez Arquero M, Maluenda C, Polanco I, de la Concha E, et al. Lack of replication of celiac disease risk variants reported in a Spanish population using an independent Spanish sample. Genes Immun. 2009;10:659-61 pubmed publisher
    ..No association was detected in those analyses. Therefore, our results seem to discard the role of the previously described polymorphisms in SERPINE2, PPP6C and PBX3 in CD susceptibility. ..
  21. Murillo Cuesta S, Contreras J, Zurita E, Cediel R, Cantero M, Varela Nieto I, et al. Melanin precursors prevent premature age-related and noise-induced hearing loss in albino mice. Pigment Cell Melanoma Res. 2010;23:72-83 pubmed publisher
    ..These results demonstrate that melanin precursors, such as L-DOPA, have a protective role in the mammalian cochlea in age-related and noise-induced hearing loss...
  22. Sánchez Navarro I, Gámez Pozo A, Pinto A, Hardisson D, Madero R, Lopez R, et al. An 8-gene qRT-PCR-based gene expression score that has prognostic value in early breast cancer. BMC Cancer. 2010;10:336 pubmed publisher
    ..This study identifies a simple gene expression score that complements histopathological prognostic factors in breast cancer, and can be determined in paraffin-embedded samples. ..
  23. Aguilar Calvo P, Espinosa J, Pintado B, Gutierrez Adan A, Alamillo E, Miranda A, et al. Role of the goat K222-PrP(C) polymorphic variant in prion infection resistance. J Virol. 2014;88:2670-6 pubmed publisher
  24. Rebbeck T, Mitra N, Wan F, Healey S, McGuffog L, Chenevix Trench G, et al. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA. 2015;313:1347-61 pubmed publisher
    ..With appropriate validation, these data may have implications for risk assessment and cancer prevention decision making for carriers of BRCA1 and BRCA2 mutations. ..
  25. de la Hoya M, Osorio A, Godino J, Sulleiro S, Tosar A, Perez Segura P, et al. Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing. Int J Cancer. 2002;97:466-71 pubmed
    ..4% and 79%, respectively (probability cutoff of 30%). The findings of our work may be a useful tool for increasing the cost-effectiveness of genetic testing in familial cancer clinics. ..
  26. Urcelay E, Santiago J, de la Calle H, Martinez A, Figueredo A, Fernandez Arquero M, et al. Interleukin-10 polymorphisms in Spanish type 1 diabetes patients. Genes Immun. 2004;5:306-9 pubmed
    ..Our results prove a minor role of IL-10 in the autoimmune diabetes risk, although we found the same association trend with IL-10G(*)12 allele as was previously observed for multiple sclerosis and rheumatoid arthritis. ..
  27. Esparza Gordillo J, Goicoechea de Jorge E, Buil A, Carreras Berges L, Lopez Trascasa M, Sanchez Corral P, et al. Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32. Hum Mol Genet. 2005;14:703-12 pubmed
  28. Urcelay E, Santiago J, de la Calle H, Martinez A, Mendez J, Ibarra J, et al. Type 1 diabetes in the Spanish population: additional factors to class II HLA-DR3 and -DR4. BMC Genomics. 2005;6:56 pubmed
    ..Our results suggest that other associated MHC haplotypes might present susceptibility factors in loci different from HLA-class II and that the class II molecules are not necessarily the universal etiologic factor in every MHC haplotype. ..
  29. Santiago J, Martinez A, Benito M, Ruiz de León A, Mendoza J, Fernandez Arquero M, et al. Gender-specific association of the PTPN22 C1858T polymorphism with achalasia. Hum Immunol. 2007;68:867-70 pubmed
    ..94, 95% CI 1.12-3.36, p = 0.01), but not between male patients and controls (OR = 0.94, 95% CI 0.50-1.77, p = 0.85). We conclude that the PTPN22 1858T allele is a susceptibility factor for Spanish women with achalasia. ..
  30. Caronia D, Martin M, Sastre J, de la Torre J, Garcia Saenz J, Alonso M, et al. A polymorphism in the cytidine deaminase promoter predicts severe capecitabine-induced hand-foot syndrome. Clin Cancer Res. 2011;17:2006-13 pubmed publisher
    ..7-fold increased allele-specific mRNA expression from the deleted allele. The deleted allele of rs3215400 shows an increased allele-specific expression and is significantly associated with an increased risk of capecitabine-induced HFS. ..
  31. Comino Mendez I, Gracia Aznárez F, Schiavi F, Landa I, Leandro García L, Leton R, et al. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet. 2011;43:663-7 pubmed publisher
  32. Leandro García L, Leskela S, Inglada Pérez L, Landa I, de Cubas A, Maliszewska A, et al. Hematologic ?-tubulin VI isoform exhibits genetic variability that influences paclitaxel toxicity. Cancer Res. 2012;72:4744-52 pubmed publisher
    ..A polymorphism found in a tubulin isoform expressed only in hemapoietic cells may contribute to the patient variation in myelosuppression that occurs after treatment with microtubule-binding drugs. ..
  33. Marenne G, Real F, Rothman N, Rodríguez Santiago B, Perez Jurado L, Kogevinas M, et al. Genome-wide CNV analysis replicates the association between GSTM1 deletion and bladder cancer: a support for using continuous measurement from SNP-array data. BMC Genomics. 2012;13:326 pubmed publisher
  34. Martin M, Oliver J, Urcelay E, Orozco G, Gomez Garcia M, Lopez Nevot M, et al. The functional genetic variation in the PTPN22 gene has a negligible effect on the susceptibility to develop inflammatory bowel disease. Tissue Antigens. 2005;66:314-7 pubmed
    ..These results indicate that the PTPN22 1858C-->T polymorphism does not appear to play a major role in IBD predisposition in our population. ..
  35. Martinez A, Marquez A, Mendoza J, Taxonera C, Fernandez Arquero M, Diaz Rubio M, et al. Role of the PXR gene locus in inflammatory bowel diseases. Inflamm Bowel Dis. 2007;13:1484-7 pubmed
    ..005). Our data seem to support the association of the PXR locus with extensive UC and the interaction between PXR and MDR1 genes. ..
  36. Fernandez L, Milne R, Pita G, Avilés J, Lazaro P, Benitez J, et al. SLC45A2: a novel malignant melanoma-associated gene. Hum Mutat. 2008;29:1161-7 pubmed publisher
    ..This is the first time SLC45A2 has been described as a melanoma susceptibility gene in a light-skinned population. ..
  37. Landa I, Ruiz Llorente S, Montero Conde C, Inglada Pérez L, Schiavi F, Leskela S, et al. The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors. PLoS Genet. 2009;5:e1000637 pubmed publisher
    ..They also attest to the efficacy of candidate gene approaches in the GWAS era. ..
  38. Okada Y, Wu D, Trynka G, Raj T, Terao C, Ikari K, et al. Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature. 2014;506:376-81 pubmed publisher
  39. Barroso E, Milne R, Fernandez L, Zamora P, Arias J, Benitez J, et al. FANCD2 associated with sporadic breast cancer risk. Carcinogenesis. 2006;27:1930-7 pubmed
    ..Our data indicate that a relationship between FANCD2 and sporadic breast cancer risk may exist. ..
  40. Fernandez L A, Fernandez Lopez A, Garrido Martin E, Sanz Rodriguez F, Pericacho M, Rodriguez Barbero A, et al. Gene expression fingerprinting for human hereditary hemorrhagic telangiectasia. Hum Mol Genet. 2007;16:1515-33 pubmed
    ..Moreover, as the disease is originated by mutations in proteins of the TGF-beta receptor complex, these results may be useful to find out targets of the TGF-beta pathway in endothelium. ..
  41. Martinez A, Orozco G, Varadé J, Sánchez López M, Pascual D, Balsa A, et al. Macrophage migration inhibitory factor gene: influence on rheumatoid arthritis susceptibility. Hum Immunol. 2007;68:744-7 pubmed
    ..6; OR = 1.09; 95% CI = 0.77-1.55). In conclusion, the -173C allele in the MIF promoter region is associated with increased RA predisposition, mainly in early-onset patients. ..
  42. González Sánchez J, Zabena C, Martinez Larrad M, Martínez Calatrava M, Pérez Barba M, Serrano Rios M. Association of ENPP1 (PC-1) K121Q polymorphism with obesity-related parameters in subjects with metabolic syndrome. Clin Endocrinol (Oxf). 2008;68:724-9 pubmed
    ..Our results suggest that the ENPP1121Q allele might contribute to the genetic susceptibility to abdominal obesity among subjects with MS. ..
  43. De la Concha E, Cavanillas M, Cénit M, Urcelay E, Arroyo R, Fernandez O, et al. DRB1*03:01 haplotypes: differential contribution to multiple sclerosis risk and specific association with the presence of intrathecal IgM bands. PLoS ONE. 2012;7:e31018 pubmed publisher
    ..The diverse DRB1*03:01-containing haplotypes contribute with different risk to MS susceptibility. The AH 18.2 causes the highest risk and affects only to individuals showing OCMB. ..
  44. Milne R, Benitez J, Nevanlinna H, Heikkinen T, Aittomaki K, Blomqvist C, et al. Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. J Natl Cancer Inst. 2009;101:1012-8 pubmed publisher
    ..15, 95% CI = 1.11 to 1.19; P = 5 x 10(-14)) and PR-negative disease (OR = 1.10, 95% CI = 1.06 to 1.15; P = .00002). The rs13387042 is associated with both ER-positive and ER-negative breast cancer in European women. ..
  45. Jiménez A, Sanchez B, Pérez Alenza D, Garcia P, López J, Rodriguez A, et al. Membranous glomerulonephritis in the Iberian lynx (Lynx pardinus). Vet Immunol Immunopathol. 2008;121:34-43 pubmed
    ..We postulate a possible genetic predisposition towards the disease, enhanced by inbreeding and a possible connection to an immune-mediated systemic disease...
  46. Mendoza J, Lana R, Diaz Rubio M. Mycobacterium avium subspecies paratuberculosis and its relationship with Crohn's disease. World J Gastroenterol. 2009;15:417-22 pubmed
    ..Accordingly, this review sought neither to confirm nor refute this, but instead to survey recent literature on the role of MAP in CD. ..
  47. Medrano L, Garcia Magariños M, Dema B, Espino L, Maluenda C, Polanco I, et al. Th17-related genes and celiac disease susceptibility. PLoS ONE. 2012;7:e31244 pubmed publisher
    ..No significant results emerged after performing the appropriate statistical corrections. Our results seem to discard a relevant role of Th17 cells on CD risk. ..
  48. Barriales Villa R, Gimeno Blanes J, Zorio Grima E, Ripoll Vera T, Evangelista Masip A, Moya Mitjans A, et al. Plan of Action for Inherited Cardiovascular Diseases: Synthesis of Recommendations and Action Algorithms. Rev Esp Cardiol (Engl Ed). 2016;69:300-9 pubmed publisher
    ..We highlight the role of multidisciplinary referral units in the diagnosis and treatment of these conditions. ..
  49. Marti M, Alvarez I, Montserrat V, Lopez de Castro J. Large sharing of T-cell epitopes and natural ligands between HLA-B27 subtypes (B*2702 and B*2705) associated with spondyloarthritis. Tissue Antigens. 2001;58:351-62 pubmed
    ..The large sharing of natural ligands and T-cell epitopes is consistent with a pathogenetic role of B*2702 and B*2705 in spondyloarthritis based on antigen presentation. ..
  50. Robles O, Blaxton T, Adami H, Arango C, Thaker G, Gold J. Nonverbal delayed recognition in the relatives of schizophrenia patients with or without schizophrenia spectrum. Biol Psychiatry. 2008;63:498-504 pubmed
    ..0199]. A biological relationship to schizophrenia increases the likelihood of impaired delayed recognition memory. Likewise, poorer performance is associated with schizophrenia spectrum phenotype only when combined with familiality. ..
  51. Ponce G, Hoenicka J, Jimenez Arriero M, Rodriguez Jimenez R, Aragues M, Martín Suñé N, et al. DRD2 and ANKK1 genotype in alcohol-dependent patients with psychopathic traits: association and interaction study. Br J Psychiatry. 2008;193:121-5 pubmed publisher
    ..13) (P=0.01) and a frequency of dissocial personal disorder OR=10.52, P<0.001. The TaqI-A of the ANKK1 gene and the C957T of the DRD2 gene are epistatically associated with psychopathic traits in alcohol-dependent patients. ..
  52. Dema B, Martínez A, Fernández Arquero M, Maluenda C, Polanco I, Figueredo M, et al. The IL6-174G/C polymorphism is associated with celiac disease susceptibility in girls. Hum Immunol. 2009;70:191-4 pubmed
    ..03-1.66; and vs controls: p = 0.003, OR = 1.30, 95% CI 1.09-1.55). The functional -174G/C IL6 polymorphism seems to influence CD susceptibility in girls. The gender-specific role of IL-6 in this pathology must be further investigated. ..
  53. García Redondo A, Dols Icardo O, Rojas Garcia R, Esteban Pérez J, Cordero Vázquez P, Munoz Blanco J, et al. Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide. Hum Mutat. 2013;34:79-82 pubmed publisher
    ..This haplotype was found in 5.6% Yoruba Africans, 8.9% CEU, 3.9% Japanese, and 1.6% Han Chinese chromosomes. ..
  54. Minikel E, Vallabh S, Lek M, Estrada K, Samocha K, Sathirapongsasuti J, et al. Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med. 2016;8:322ra9 pubmed publisher
  55. Rodriguez Rodriguez L, Ramón Lamas J, Abásolo L, Baena S, Olano Martin E, Collado A, et al. The rs3771863 single nucleotide polymorphism of the TACR1 gene is associated to a lower risk of sicca syndrome in fibromyalgia patients. Clin Exp Rheumatol. 2015;33:S33-40 pubmed
    ..56, [95%CI 0.42-0.76], p=0.00022). Our findings indicate a role of the TACR1 gene in the development of sicca syndrome in subjects affected with FM. ..
  56. Jimenez Jimenez F, Alonso Navarro H, Garcia Martin E, Agundez J. NAT2 polymorphisms and risk for Parkinson's disease: a systematic review and meta-analysis. Expert Opin Drug Metab Toxicol. 2016;12:937-46 pubmed publisher
    ..However, data from many studies are incomplete and therefore insufficient data exists to draw definitive conclusions. Several studies suggesting gene-gene and gene-environmental factors involving NAT2 gene in PD risk await confirmation. ..
  57. Perrotti P, Aterido A, Fernandez Nebro A, Canete J, Ferrandiz C, Tornero J, et al. Genetic variation associated with cardiovascular risk in autoimmune diseases. PLoS ONE. 2017;12:e0185889 pubmed publisher
    ..The results of this study support the presence of specific genetic variation associated with the increase of CVD risk observed in autoimmunity...
  58. Castilla J, Gutierrez Adan A, Brun A, Pintado B, Parra B, Ramirez M, et al. Different behavior toward bovine spongiform encephalopathy infection of bovine prion protein transgenic mice with one extra repeat octapeptide insert mutation. J Neurosci. 2004;24:2156-64 pubmed
    ..These findings may help us improve the current mouse bioassays and understand the role of the octapeptide repeat region in susceptibility to disease. ..
  59. Martinez A, Mas A, De las Heras V, Bartolome M, Arroyo R, Fernandez Arquero M, et al. FcRL3 and multiple sclerosis pathogenesis: role in autoimmunity?. J Neuroimmunol. 2007;189:132-6 pubmed
  60. Martin Del Valle F, Díaz Negrillo A, Ares Mateos G, Sanz Santaeufemia F, del Rosal Rabes T, González Valcárcel Sánchez Puelles F. Panayiotopoulos syndrome: probable genetic origin, but not in SCN1A. Eur J Paediatr Neurol. 2011;15:155-7 pubmed publisher
    ..These cases suggest a genetic origin, and SCN1A appears to be associated with the outcome but not with the development of this syndrome. ..
  61. Figueroa J, Middlebrooks C, Banday A, Ye Y, Garcia Closas M, Chatterjee N, et al. Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry. Hum Mol Genet. 2016;25:1203-14 pubmed publisher
    ..02 for both rs62185668 and rs6108803). Functional analyses are needed to explore the biological mechanisms underlying these novel genetic associations with risk for bladder cancer. ..
  62. Cenit M, Alcina A, Marquez A, Mendoza J, Diaz Rubio M, De Las Heras V, et al. STAT3 locus in inflammatory bowel disease and multiple sclerosis susceptibility. Genes Immun. 2010;11:264-8 pubmed publisher
    ..The originally described association of IBD with STAT3 polymorphisms is corroborated for the two clinical phenotypes, CD and UC, in an independent population. A major role of this gene in MS seems unlikely. ..
  63. Martinez Useros J, Garcia Foncillas J. The Role of BRCA2 Mutation Status as Diagnostic, Predictive, and Prognosis Biomarker for Pancreatic Cancer. Biomed Res Int. 2016;2016:1869304 pubmed publisher
  64. Suzuki Y, Gomez Guerrero C, Shirato I, Lopez Franco O, Hernandez Vargas P, Sanjuán G, et al. Susceptibility to T cell-mediated injury in immune complex disease is linked to local activation of renin-angiotensin system: the role of NF-AT pathway. J Immunol. 2002;169:4136-46 pubmed
    ..This novel mechanism affords a rationale for the use of drugs interfering with RAS in immune renal diseases. ..
  65. Martinez A, Gual L, Fernandez Arquero M, Nogales A, Ferreira A, Garcia Rodriguez M, et al. Epistatic effects occurring among susceptibility and protective MHC genes in IgA deficiency. Genes Immun. 2003;4:316-20 pubmed
  66. Fatjó Vilas M, Prats C, Pomarol Clotet E, Lazaro L, Moreno C, González Ortega I, et al. Involvement of NRN1 gene in schizophrenia-spectrum and bipolar disorders and its impact on age at onset and cognitive functioning. World J Biol Psychiatry. 2016;17:129-39 pubmed publisher
    ..005). Results suggest that: (i) NRN1 variability is a shared risk factor for both SSD and BPD, (ii) NRN1 may have a selective impact on age at onset and intelligence in SSD, and (iii) the role of NRN1 seems to be not independent of BDNF. ..
  67. Rodriguez Novoa S, Barreiro P, Rendon A, Barrios A, Corral A, Jimenez Nacher I, et al. Plasma levels of atazanavir and the risk of hyperbilirubinemia are predicted by the 3435C-->T polymorphism at the multidrug resistance gene 1. Clin Infect Dis. 2006;42:291-5 pubmed
    ..Plasma levels of atazanavir were significantly higher in patients with genotype CC than in those with CT or TT, and bilirubin levels correlated with atazanavir concentrations. ..
  68. Villanueva M, Navarro F, Sanchez A, Provencio M, Bonilla F, Espana P. Testicular germ cell tumor and Down syndrome. Tumori. 2000;86:431-3 pubmed
    ..We report two cases of this association and review the English medical literature...
  69. Ibarrola Villava M, Fernandez L, Pita G, Bravo J, Floristan U, Sendagorta E, et al. Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2. Exp Dermatol. 2010;19:836-44 pubmed publisher
    ..We found that the variant allele A > G of OCA2/HERC2 (rs12913832) was associated with pigmentation features: eye, hair and skin colour; P-values = 1.8 x 10(-29), 9.2 x 10(-16), 1.1 x 10(-3), respectively, validating previous results. ..
  70. Melchor L, Honrado E, Huang J, Alvarez S, Naylor T, Garcia M, et al. Estrogen receptor status could modulate the genomic pattern in familial and sporadic breast cancer. Clin Cancer Res. 2007;13:7305-13 pubmed
    ..According to our results, the BRCA gene mutation status (mainly BRCA1) would contribute to the genomic profile of abnormalities by increasing or modulating the genome instability. ..
  71. Gual L, Martinez A, Fernandez Arquero M, Garcia Rodriguez M, Ferreira A, Fontan G, et al. Major histocompatibility complex haplotypes in Spanish immunoglobulin A deficiency patients: a comparative fine mapping microsatellite study. Tissue Antigens. 2004;64:671-7 pubmed
    ..The results obtained also indicated that the most likely susceptibility gene in the DR7 haplotypes is either DQA1 or DRB1. ..
  72. Martinez A, Santiago J, Cénit M, De las Heras V, de la Calle H, Fernandez Arquero M, et al. IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk. Eur J Hum Genet. 2008;16:861-4 pubmed publisher
  73. Cascon A, Pita G, Burnichon N, Landa I, López Jiménez E, Montero Conde C, et al. Genetics of pheochromocytoma and paraganglioma in Spanish patients. J Clin Endocrinol Metab. 2009;94:1701-5 pubmed publisher
    ..9% in our series) and mainly involve SDHB. Therefore, we recommend prioritizing SDHB genetic testing in patients developing isolated tumors at any age, especially those with extraadrenal location or malignant behavior. ..
  74. Rodriguez Antona C, Gomez A, Karlgren M, Sim S, Ingelman Sundberg M. Molecular genetics and epigenetics of the cytochrome P450 gene family and its relevance for cancer risk and treatment. Hum Genet. 2010;127:1-17 pubmed publisher
    ..We conclude that the CYP polymorphism does not predict cancer susceptibility to any large extent but that this polymorphism might be an important factor for optimal cancer therapy using selected anticancer agents. ..
  75. Ramos Leví A, Bernabeu I, Sampedro Núñez M, Marazuela M. Genetic Predictors of Response to Different Medical Therapies in Acromegaly. Prog Mol Biol Transl Sci. 2016;138:85-114 pubmed publisher
  76. Pino Yanes M, Ma S, Sun X, Tejera P, Corrales A, Blanco J, et al. Interleukin-1 receptor-associated kinase 3 gene associates with susceptibility to acute lung injury. Am J Respir Cell Mol Biol. 2011;45:740-5 pubmed publisher
    ..017). Despite the need for replication in independent studies, our data suggest that common SNPs in the IRAK3 gene may be determinants of sepsis-induced ALI. ..
  77. Pozo Rubio T, De Palma G, Mujico J, Olivares M, Marcos A, Acuña M, et al. Influence of early environmental factors on lymphocyte subsets and gut microbiota in infants at risk of celiac disease; the PROFICEL study. Nutr Hosp. 2013;28:464-73 pubmed publisher
    ..This includes environmental factors that are currently believed to impact on the immune system and gut microbiota development...
  78. Dunning A, Michailidou K, Kuchenbaecker K, Thompson D, French J, Beesley J, et al. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nat Genet. 2016;48:374-86 pubmed publisher
  79. Bullido M, Martinez Garcia A, Artiga M, Aldudo J, Sastre I, Gil P, et al. A TAP2 genotype associated with Alzheimer's disease in APOE4 carriers. Neurobiol Aging. 2007;28:519-23 pubmed
    ..These findings are consistent with the hypothesis that human genetic variants facilitating the access of HSV-1 to the brain might result in susceptibility to AD...
  80. Garcia M, Fernandez V, Osorio A, Barroso A, Llort G, Lazaro C, et al. Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. Breast Cancer Res Treat. 2009;113:545-51 pubmed publisher
  81. Perdigones N, Lamas J, Vigo A, De la Concha E, Jover J, Urcelay E, et al. 6q23 polymorphisms in rheumatoid arthritis Spanish patients. Rheumatology (Oxford). 2009;48:618-21 pubmed publisher
    ..014 and P = 0.015 respectively), thus replicating previous findings. Our data replicate the association of rs6920220 with autoantibody-positive RA disease, although not for rs10499194. ..
  82. Prieto Pérez R, Almoguera B, Cabaleiro T, Hakonarson H, Abad Santos F. Association between Genetic Polymorphisms and Response to Anti-TNFs in Patients with Inflammatory Bowel Disease. Int J Mol Sci. 2016;17:225 pubmed publisher
    ..We observed a connection between the major genes described as possible predictors of response to anti-TNF drugs in IBD and the cytokines and molecules involved in the T helper (Th) 17 pathway. ..
  83. San Millan J, Corton M, Villuendas G, Sancho J, Peral B, Escobar Morreale H. Association of the polycystic ovary syndrome with genomic variants related to insulin resistance, type 2 diabetes mellitus, and obesity. J Clin Endocrinol Metab. 2004;89:2640-6 pubmed
  84. Ortiz Fernández L, García Lozano J, Montes Cano M, Conde Jaldón M, Ortego Centeno N, Castillo Palma M, et al. Association of CCR5Δ32 and Behçet's disease: new data from a case-control study in the Spanish population and meta-analysis. Clin Exp Rheumatol. 2015;33:S96-100 pubmed
    ..091; OR=1.22; 95%CI 0.98 to 1.52 in the allelic model). The results of this meta-analysis discard a major role of the CCR5Δ32 polymorphism in BD. ..
  85. Zapardiel I, Rajaram S, Piovano E, Petrillo M. Challenges in Gynecological Cancer: Biology, Diagnosis, Surgical, and Medical Treatment. Biomed Res Int. 2015;2015:787080 pubmed publisher
  86. Miquilena Colina M, Lima Cabello E, Sanchez Campos S, Garcia Mediavilla M, Fernandez Bermejo M, Lozano Rodríguez T, et al. Hepatic fatty acid translocase CD36 upregulation is associated with insulin resistance, hyperinsulinaemia and increased steatosis in non-alcoholic steatohepatitis and chronic hepatitis C. Gut. 2011;60:1394-402 pubmed publisher
    ..Translocation of this fatty acid transporter to the plasma membrane of hepatocytes may contribute to liver fat accumulation in patients with NAFLD and HCV. ..
  87. Renner O, Blanco Aparicio C, Grassow M, Canamero M, Leal J, Carnero A. Activation of phosphatidylinositol 3-kinase by membrane localization of p110alpha predisposes mammary glands to neoplastic transformation. Cancer Res. 2008;68:9643-53 pubmed publisher
  88. Romero A, Perez Segura P, Tosar A, Garcia Saenz J, Diaz Rubio E, Caldes T, et al. A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families. Breast Cancer Res Treat. 2011;129:939-46 pubmed publisher
    ..Interestingly, we have identified one clearly pathogenic mutation (c.774delT) in the subset of 101 breast and ovarian cancer families, supporting that RAD51C is a human breast and ovarian cancer susceptibility gene. ..
  89. Garcia Montojo M, Martinez A, De las Heras V, Domínguez Mozo M, Cenit M, López Cavanillas M, et al. Herpesvirus active replication in multiple sclerosis: a genetic control?. J Neurol Sci. 2011;311:98-102 pubmed publisher
    ..The results show that MS patients without HHV-6 active replication are better responders to interferon beta treatment than those with HHV-6 active replication. ..
  90. Segura P, Ponce C, Ramon Y Cajal T, Blanch R, Aranda E. Hereditary pancreatic cancer: molecular bases and their application in diagnosis and clinical management: a guideline of the TTD group. Clin Transl Oncol. 2012;14:553-63 pubmed publisher
    ..However, known genetic syndromes account for <20 % of the observed familial aggregation of PC. We review the most important aspects in epidemiology, molecular biology and clinical management of familial PC. ..
  91. Gordo Gilart R, Hierro L, Andueza S, Muñoz Bartolo G, López C, Díaz C, et al. Heterozygous ABCB4 mutations in children with cholestatic liver disease. Liver Int. 2016;36:258-67 pubmed publisher
    ..These results illustrate the varying effects of ABCB4 missense mutations and suggest that even a modest reduction in MDR3 activity may contribute or predispose to the onset of cholestatic liver disease in the paediatric age. ..
  92. Villa Morales M, Santos J, Fernandez Piqueras J. Functional Fas (Cd95/Apo-1) promoter polymorphisms in inbred mouse strains exhibiting different susceptibility to gamma-radiation-induced thymic lymphoma. Oncogene. 2006;25:2022-9 pubmed
    ..Promoter activities in response to single high doses of radiation correlated well with the levels of Fas expression and are consistent with the degree of strain susceptibility. ..