Carmen García‐Ibarbia

Marqués de Valdecilla University Hospital

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José A. Riancho

Marqués de Valdecilla University Hospital

María Isabel Pérez‐Núñez

Universidad de Cantabria

Marı́a T. Zarrabeitia

Universidad de Cantabria

José L. Hernández

Universidad de Cantabria

Carolina Sañudo

Universidad de Cantabria

Carlos Garcés

Universidad de Cantabria

Ád

Álvaro del Real

Universidad de Cantabria

Carmen Valero

Universidad de Cantabria

José M. Olmos

Universidad de Cantabria

María Carmen Fariñas

Marqués de Valdecilla University Hospital

Cooperative Institutions

University of Edinburgh

240

University of Siena

206

National Institute for Health Research

193

University of Oxford

185

Instituto de Salud Carlos III

184

Roslin Institute

153

University College London

141

Intensive Care National Audit & Research Centre

140

University of Liverpool

139

Imperial College London

128

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Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity

Communications Biology (2025)

José Luis Cabrera-Alarcón Raquel Cruz Marina Rosa-Moreno Ana Latorre Silvia Diz‐de Almeida

The frequency of mitochondrial DNA haplogroups (mtDNA-HG) in humans is known to be shaped by migration and repopulation. Mounting evidence indicates that mtDNA-HG are not phenotypically neutral, and selection may contribute to its distribution. Haplogroup H, the most abundant in Europe, improved survival in sepsis. Here we developed a random forest trained model for mitochondrial haplogroup calling using data procured from GWAS arrays. Our results reveal that in the context of the SARS-CoV-2 pandemic, HV branch were found to represent protective factors against the development of critical SARS-CoV-2 in an analysis of 14,349 patients. These results highlight the role of mtDNA in the response to infectious diseases and support the proposal that its expansion and population proportion has been influenced by selection through successive pandemics. Genetic and Structural analysis of COVID patients cohort reveals a correlation between mitochondrial haplogroup and SARS-CoV-2 severity.

Haplogroup

Pandemic

10.1038/s42003-024-07314-y

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Citations (0)

RUNX2, osterix and the human sclerostin gene: searching molecular and epidemiological interactions

Bone Abstracts (2016)

Flor M. Pérez-Campo Ana Santurtún Carmen García‐Ibarbia M. Asunción Pascual Carmen Valero

Searchable abstracts of presentations at key conferences on calcified tissues ISSN 2052-1219 (online)

Sclerostin

RUNX2

10.1530/boneabs.5.p143

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Citations (1)

Wnt receptors, bone mass, and fractures: gene-wide association analysis of LRP5 and LRP6 polymorphisms with replication

European Journal of Endocrinology (2010)

José A. Riancho José M. Olmos Begoña Pineda Carmen García‐Ibarbia María Isabel Pérez‐Núñez

Genes explaining the susceptibility to osteoporosis have not been fully elucidated. Our objective was to explore the association of polymorphisms capturing common variations of the lipoprotein receptor-related protein (LRP) 5 and 6 genes, encoding two Wnt receptors, with femoral neck bone mineral density (BMD) and osteoporotic fractures of the spine and the hip.Cross-sectional, case-control, and replication genetic association study.Thirty-nine tagging and functional single nucleotide polymorphisms (SNPs) were analyzed in a group of 1043 postmenopausal women and 394 women with hip fractures. The results were replicated in a different group of 342 women.Three SNPs of the LRP6 gene were associated with BMD (nominal uncorrected P values <0.05) in the discovery cohort. One showed a significant association after multiple test correction; two of them were also associated in the replication cohort, with a combined standardized mean difference of 0.51 (P=0.009) and 0.47 (P<0.003) across rs11054704 and rs2302685 genotypes. In the discovery cohort, several LRP5 SNPs were associated with vertebral fractures (odds ratio (OR) 0.67; P=0.01), with hip fractures (unadjusted ORs between 0.59 and 1.21; P=0.005-0.033, but not significant after multiple test adjustment or age adjustment), and with height and the projected femoral neck area, but not with BMD. Transcripts of LRP5 and LRP6 were similarly abundant in bone samples.In this study, we found common polymorphisms of LRP5 associated with osteoporotic fractures, and polymorphisms of the LRP6 gene associated with BMD, thus suggesting them as likely candidates to contribute to the explaination of the hereditary influence on osteoporosis.

LRP5

LRP6

10.1530/eje-10-0582

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Citations (48)

National digestive disease specialists survey on cardiovascular risk management in non‐alcoholic fatty liver disease in spanish hospitals

Liver International (2021)

Paula Iruzubieta M. Arias José Ignacio Fortea Antonio Cuadrado Coral Rivas‐Rivas

Cardiovascular disease (CVD) is the main cause of mortality among non-alcoholic fatty liver disease (NAFLD) patients. The aim was to explore the level of knowledge and clinical management of cardiovascular risk (CVR) in NAFLD patients by Digestive Disease specialists.An anonymous web-based survey was designed with 44 close-ended questions, divided into five sections, that were based on current guidelines on CVD prevention. Between November 2019 and January 2020, Digestive Disease specialists from Spanish hospitals were invited to participate in this survey via email and Twitter. Student's t, chi-square and Fishers' exact tests, and logistic regression were used for data analysis.208 clinicians completed the survey. Most respondents (83.2%) believe that NAFLD is an independent risk factor for CVD, especially in the presence of NASH and fibrosis. Personal history of CVDs and cardiovascular risk-related comorbidities are collected by more than 75% of respondents. However, less than 17% perform an elementary physical examination to address the CVR, except weight which is evaluated by 69.8%. Over 54% of respondents do not perform or request any supplementary tests for CVR assessment, and only 10.2% use specific calculators. Furthermore, 54.3% spend less than 5 minutes giving lifestyle advice, and more than 52% do not start drug treatment after a recent diagnosis of any cardiovascular comorbidity. Only 25.6% have a multidisciplinary Unit for metabolic comorbidities in their hospitals, although 89% of the respondents would support the implementation of this Unit.Cardiovascular risk management in daily clinical practice by Digestive Disease specialists in Spain remains suboptimal.

10.1111/liv.14807

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Citations (7)

Aromatase expression in osteoarthritic and osteoporotic bone

Arthritis & Rheumatism (2008)

José L. Hernández Carlos Garcés Manuel Sumillera Eugenio V. Fernández‐Aldasoro Carmen García‐Ibarbia

Abstract Objective Estrogen deprivation is a central mechanism in the development of osteoporosis with aging. Results from recent studies also suggest the involvement of estrogens in the pathophysiology of osteoarthritis (OA). Aromatization of androgenic precursors in peripheral tissue is the main source of estrogens in postmenopausal women and in men. However, the importance of aromatase expression in bone is a subject of controversy. This study was undertaken to determine aromatase expression in bone samples from patients with hip fracture and patients with OA. Methods We studied 104 patients with hip fracture (n = 60) or primary hip OA (n = 44). Aromatase expression was determined in trabecular bone samples from the femoral neck and in osteoblast cultures grown by the primary explant technique (n = 62), using real‐time reverse transcriptase–polymerase chain reaction. Results Aromatase RNA was detected in bone samples at levels similar to those found in adipose tissue. Transcript levels were significantly lower in bone tissue samples obtained from patients with OA than in those obtained from patients with fracture ( P = 0.00001). Likewise, primary cultures of osteoblast cells from OA patients revealed lower aromatase expression than those of cells from fracture patients ( P = 0.012). Results were independent of age or sex differences. Conclusion Our findings indicate that the aromatase gene is expressed in bone tissue in high amounts, similar to those found in adipose tissue, but transcript levels are lower in tissue samples and osteoblast cultures from patients with OA than in those from patients with hip fracture. Since estrogens may help to prevent local cartilage degradation, it can be speculated that such a reduced expression of aromatase could facilitate the development of OA.

Bone tissue

Bone remodeling

10.1002/art.23500

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Citations (40)

POS1305 HLA-DRB1*11:01 ASSOCIATION DIFFERENCIATES ANTI-HMGCR IMMUNE-MEDIATED NECROTIZING MYOPATHY FROM NON-IMMUNE MEDIATED STATIN MYOTOXICITY

Annals of the Rheumatic Diseases (2024)

C. Corrales-Selaya D. Prieto-Peña J. Gonzalo Ocejo‐Vinyals A. Corrales Martinez Carmen García‐Ibarbia

Myotoxin

10.1136/annrheumdis-2024-eular.2512

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Citations (0)

Osteogenic capacity of mesenchymal stem cells from patients with osteoporotic hip fractures in vivo

Connective Tissue Research (2021)

Laura López-Delgado Álvaro del Real Carolina Sañudo Carmen García‐Ibarbia Esther Laguna-Bercero

Human mesenchymal stem cells (MSCs) have the ability to differentiate into bone-forming osteoblasts. The aim of this study was to elucidate if MSCs from patients with OP show a senescent phenotype and explore their bone-forming ability in vivo.MSCs from patients with OP and controls with osteoarthritis (OA) were implanted into the subcutaneous tissue of immunodeficient mice for histological analysis and expression of human genes by RT-PCR. The expression of senescence-associated phenotype (SASP) genes, as well as p16, p21, and galactosidase, was studied in cultures of MSCs.In vivo bone formation was evaluated in 103 implants (47 OP, 56 OA). New bone was observed in 45% of the implants with OP cells and 46% of those with OA cells (p = 0.99). The expression of several bone-related genes (collagen, osteocalcin, alkaline phosphatase, sialoprotein) was also similar in both groups. There were no differences between groups in SASP gene expression, p16, and p21 expression, or in senescence-associated galactosidase activity.Senescence markers and the osteogenic capacity in vivo of MSCs from patients with OP are not inferior to that of cells from controls of similar age with OA. This supports the interest of future studies to evaluate the potential use of autologous MSCs from OP patients in bone regeneration procedures.

Bone sialoprotein

Senescence

10.1080/03008207.2021.1894140

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Citations (4)

Association of allelic variants of the genes coding for aromatase and estrogen receptor with osteoarthritis of the knee

Bone (2010)

Javier Riancho Carmen García‐Ibarbia Athanasia Gravani E.V. Raine C. Rodriguez-Fontela

Estrogen receptor alpha

10.1016/j.bone.2010.04.116

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Citations (0)

375 A MULTICENTER STUDY OF THE ASSOCIATION OF AROMATASE AND ESTROGEN RECEPTOR GENES WITH HIP AND KNEE OSTEOARTHRITIS

Osteoarthritis and Cartilage (2010)

J.A. Riancho Carmen García‐Ibarbia Athanasia Gravani E.V. Raine Cristina Rodriguez‐Fontenla

Estrogen receptor alpha

10.1016/s1063-4584(10)60402-5

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Citations (0)

Henoch-Schönlein purpura after intravesical administration of bacillus Calmette-Guérin

Scandinavian Journal of Infectious Diseases (2005)

Daniel Nan Marta Fernández‐Ayala Carmen García‐Ibarbia Mar Gutiérrez-Santiago José L. Hernández

The administration of intravesical bacille Calmette-Guérin (BCG) in early stages of bladder cancer is usually a safe therapy. Side-effects of BCG immunotherapy can be of both local and systemic nature. We report the first case of Henoch-Schönlein purpura following intravesical administration of BCG.

Purpura (gastropod)

Systemic administration

BCG vaccine

10.1080/00365540510035300

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Citations (15)