Susana Balcells

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Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for replication in 50,933 independent subjects(More)
Single-nucleotide polymorphisms (SNPs) in regulatory regions of candidate genes may determine variability in bone mineral density (BMD) because they may be responsible for differences in levels of a gene product in response to external signals. Under this hypothesis, we scanned an 800-base pair (bp) region within the COL1A1 promoter, known to harbor cis(More)
CONTEXT The COLIA1 gene is a strong candidate for susceptibility to osteoporosis. The causal genetic variants are currently unclear, but the most likely are functional polymorphisms in the promoter and intron 1 of COLIA1. OBJECTIVE The objective of the study was to determine whether promoter and intron 1 polymorphisms of COLIA1 or haplotypes defined by(More)
Genetic studies of osteoporosis have focused on analysing single polymorphisms in individual genes – with inconclusive results. An alternative approach may involve haplotypes and gene-gene interactions. The aim of the study was to test the association between the COL1A1, ESR1, VDR and TGFB1 polymorphisms or haplotypes and bone mineral density (BMD) in(More)
CONTEXT Mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene cause rare syndromes characterized by altered bone mineral density (BMD). More common LRP5 variants may affect osteoporosis risk in the general population. OBJECTIVE To generate large-scale evidence on whether 2 common variants of LRP5 (Val667Met, Ala1330Val) and 1(More)
The onset of transcriptional activity during embryogenesis in Xenopus laevis is at the 4000- to 8000-cell stage (stage 8-8.5) and is referred to as the midblastula transition (MBT). Most exogenous circular DNA that is microinjected into the fertilized egg also is expressed at the MBT. The transformed Xenopus embryo at these early stages was used as a(More)
Osteoprotegerin plays a key role in bone remodelling. We studied the association between 24 polymorphisms and haplotypes on the OPG gene and bone mineral density and fractures. After multiple-testing correction, one SNP and two block-haplotypes were significantly associated with FN BMD. Two other block-haplotypes were associated with fracture.(More)
Osteoporosis is a complex disease involving many putative genetic factors. Association analysis of functional SNPs in candidate genes is an important tool for their identification. However, this approach is affected by limited power, population stratification, and other drawbacks that lead to discordant results. Replication in independent cohorts is(More)
Gaucher disease (McKusick 230800) is a sphingolipidosis caused mainly by mutations in the/3-glucocerebrosidase (EC gene. Type 1 is free of nervous system involvement, while neurological signs are present in types 2 and 3. In Spanish Gancher patients, the two more frequent mutations are N370S (44.3%) and L444P (25.7%). The D409H mutation is the(More)