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Calcified Tissue International
Erschienen in: Calcified Tissue International 1/2010

01.07.2010

Analysis of Three Functional Polymorphisms in Relation to Osteoporosis Phenotypes: Replication in a Spanish Cohort

verfasst von: Lídia Agueda, Roser Urreizti, Mariona Bustamante, Susana Jurado, Natàlia Garcia-Giralt, Adolfo Díez-Pérez, Xavier Nogués, Leonardo Mellibovsky, Daniel Grinberg, Susana Balcells

Erschienen in: Calcified Tissue International | Ausgabe 1/2010

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Abstract

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 essential. We performed association analyses of three functional polymorphisms previously associated with bone phenotypes—namely, Ala222Val in MTHFR, Ile1062Val in LRP6, and −13910C>T in LCT—in a cohort of 944 postmenopausal Spanish women, all of them with lumbar spine (LS) bone mineral density (BMD) data and most with femoral neck (FN) BMD and fracture data. We found significant differences between genotypes only for the MTHFR polymorphism and vertebral factures, with an OR of 2.27 (95% CI 1.17–4.38) for the TT vs. CC/CT genotypes, P = 0.018. We present genotype and allele frequency data for LCT −13910C>T for a Spanish population, where the T allele (conferring lactase persistence) has a frequency of 38.6%. Genotype frequencies were consistent with observed clines in Europe and with the prevalence of lactase nonpersistence. The LCT −13910C>T polymorphism was significantly associated with height and weight, such that T allele carriers were 0.88 cm taller (95% CI 0.08–1.59 cm, P = 0.032, adjusted by age) than CC individuals and TT homozygotes were 1.91 kg heavier than CC/CT individuals (95% CI 0.11–3.71 kg, P = 0.038, adjusted by age). In conclusion, no significant association was observed between the studied polymorphisms and LS BMD or FN BMD in postmenopausal Spanish women, and only MTHFR Ala222Val was associated with vertebral fractures.
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Metadaten
Titel
Analysis of Three Functional Polymorphisms in Relation to Osteoporosis Phenotypes: Replication in a Spanish Cohort
verfasst von
Lídia Agueda
Roser Urreizti
Mariona Bustamante
Susana Jurado
Natàlia Garcia-Giralt
Adolfo Díez-Pérez
Xavier Nogués
Leonardo Mellibovsky
Daniel Grinberg
Susana Balcells
Publikationsdatum
01.07.2010
Verlag
Springer-Verlag
Erschienen in
Calcified Tissue International / Ausgabe 1/2010
Print ISSN: 0171-967X
Elektronische ISSN: 1432-0827
DOI
https://doi.org/10.1007/s00223-010-9361-4

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