COL1A1 haplotypes and hip fracture

Roser Urreizti; Natàlia Garcia-Giralt; José A. Riancho; Jesús González-Macías; Sergi Civit; Roberto Güerri; Guy Yoskovitz; Patricia Sarrion; Leonardo Mellivobsky; Adolfo Díez-Pérez; Xavier Nogués; Susana Balcells; Daniel Grinberg

doi:10.1002/jbmr.1536

COL1A1 haplotypes and hip fracture

Roser Urreizti, Natàlia Garcia-Giralt, José A. Riancho, Jesús González-Macías, Sergi Civit, Roberto Güerri, Guy Yoskovitz, Patricia Sarrion, Leonardo Mellivobsky, Adolfo Díez-Pérez, Xavier Nogués, Susana Balcells, Daniel Grinberg

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Les fractures de fragilitat resultants d'esdeveniments de baix trauma com ara una caiguda des de l'alçada estant s'associen amb osteoporosi i són molt comunes en persones grans, especialment dones. S'han estudiat àmpliament tres polimorfismes d'un sol nucleòtid (SNP) al gen COL1A1 (rs1107946, rs11327935, i rs1800012) i s'associen prèviament amb la densitat mineral òssia (BMD) i fractura. Es va trobar un haplotip rar (T-delT-T) d'aquests tres SNP que estava molt sobrerepresentat en individus fracturats comparats amb els controls no fracturats, esdevenint així un bon candidat per predir el risc de fractura augmentat. L'objectiu del nostre estudi era avaluar l'associació d'aquest haplotip amb el risc de fractura en persones espanyoles. Recrutem dos grups independents de ∼10льшoBищe 100 pacients amb fractura de maluc (un total de 203 individus) i comparàrem la genotipificació i les distribucions d'haplotip dels tres SNP en els pacients fracturats amb els de 397 individus control del cohort espanyol BARCOS. No trobem cap associació amb el risc de fractura a nivell de genotip per a qualsevol dels SNP, i no hi ha diferències en les freqüències d'SNP entre els dos grups. A nivell d'haplotip, no trobàrem cap associació entre l'haplotip T-delT-T i la fractura. Tot i això, observem una petita però significativa (p=0.03) associació amb un altre haplotip rar, G-insT-T, que estava lleugerament sobrerepresentat en el grup de pacients. Copyright © 2012 American Society for Bone and Mineral Research.

Idioma original	Anglès
Pàgines (de-a)	950-953
Revista	Journal of Bone and Mineral Research
Volum	27
DOIs	https://doi.org/10.1002/jbmr.1536
Estat de la publicació	Publicada - 1 d’abr. 2012

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10.1002/jbmr.1536

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https://www.scopus.com/pages/publications/84858725850

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@article{606637e9f9e349b3965eaa2dbbc81be0,

title = "COL1A1 haplotypes and hip fracture",

abstract = "Fragility fractures resulting from low-trauma events such as a fall from standing height are associated with osteoporosis and are very common in older people, especially women. Three single nucleotide polymorphisms (SNPs) at the COL1A1 gene (rs1107946, rs11327935, and rs1800012) have been widely studied and previously associated with bone mineral density (BMD) and fracture. A rare haplotype (T-delT-T) of these three SNPs was found to be greatly overrepresented in fractured individuals compared with nonfractured controls, thus becoming a good candidate for predicting increased fracture risk. The aim of our study was to assess the association of this haplotype with fracture risk in Spanish individuals. We recruited two independent groups of ∼100 patients with hip fracture (a total of 203 individuals) and compared the genotype and haplotype distributions of the three SNPs in the fractured patients with those of 397 control individuals from the BARCOS Spanish cohort. We found no association with risk of fracture at the genotype level for any of the SNPs, and no differences in the SNP frequencies between the two groups. At the haplotype level, we found no association between the T-delT-T haplotype and fracture. However, we observed a small but significant (p=0.03) association with another rare haplotype, G-insT-T, which was slightly overrepresented in the patient group. Copyright {\textcopyright} 2012 American Society for Bone and Mineral Research.",

keywords = "Osteoporosis, association, collagen, epidemiology, gene/genetic research, matrix proteins, polymorphisms, population studies, snps",

author = "Roser Urreizti and Nat{\`a}lia Garcia-Giralt and Riancho, \{Jos{\'e} A.\} and Jes{\'u}s Gonz{\'a}lez-Mac{\'i}as and Sergi Civit and Roberto G{\"u}erri and Guy Yoskovitz and Patricia Sarrion and Leonardo Mellivobsky and Adolfo D{\'i}ez-P{\'e}rez and Xavier Nogu{\'e}s and Susana Balcells and Daniel Grinberg",

year = "2012",

month = apr,

day = "1",

doi = "10.1002/jbmr.1536",

language = "English",

volume = "27",

pages = "950--953",

journal = "Journal of Bone and Mineral Research",

issn = "0884-0431",

publisher = "Oxford University Press",

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TY - JOUR

T1 - COL1A1 haplotypes and hip fracture

AU - Urreizti, Roser

AU - Garcia-Giralt, Natàlia

AU - Riancho, José A.

AU - González-Macías, Jesús

AU - Civit, Sergi

AU - Güerri, Roberto

AU - Yoskovitz, Guy

AU - Sarrion, Patricia

AU - Mellivobsky, Leonardo

AU - Díez-Pérez, Adolfo

AU - Nogués, Xavier

AU - Balcells, Susana

AU - Grinberg, Daniel

PY - 2012/4/1

Y1 - 2012/4/1

N2 - Fragility fractures resulting from low-trauma events such as a fall from standing height are associated with osteoporosis and are very common in older people, especially women. Three single nucleotide polymorphisms (SNPs) at the COL1A1 gene (rs1107946, rs11327935, and rs1800012) have been widely studied and previously associated with bone mineral density (BMD) and fracture. A rare haplotype (T-delT-T) of these three SNPs was found to be greatly overrepresented in fractured individuals compared with nonfractured controls, thus becoming a good candidate for predicting increased fracture risk. The aim of our study was to assess the association of this haplotype with fracture risk in Spanish individuals. We recruited two independent groups of ∼100 patients with hip fracture (a total of 203 individuals) and compared the genotype and haplotype distributions of the three SNPs in the fractured patients with those of 397 control individuals from the BARCOS Spanish cohort. We found no association with risk of fracture at the genotype level for any of the SNPs, and no differences in the SNP frequencies between the two groups. At the haplotype level, we found no association between the T-delT-T haplotype and fracture. However, we observed a small but significant (p=0.03) association with another rare haplotype, G-insT-T, which was slightly overrepresented in the patient group. Copyright © 2012 American Society for Bone and Mineral Research.

AB - Fragility fractures resulting from low-trauma events such as a fall from standing height are associated with osteoporosis and are very common in older people, especially women. Three single nucleotide polymorphisms (SNPs) at the COL1A1 gene (rs1107946, rs11327935, and rs1800012) have been widely studied and previously associated with bone mineral density (BMD) and fracture. A rare haplotype (T-delT-T) of these three SNPs was found to be greatly overrepresented in fractured individuals compared with nonfractured controls, thus becoming a good candidate for predicting increased fracture risk. The aim of our study was to assess the association of this haplotype with fracture risk in Spanish individuals. We recruited two independent groups of ∼100 patients with hip fracture (a total of 203 individuals) and compared the genotype and haplotype distributions of the three SNPs in the fractured patients with those of 397 control individuals from the BARCOS Spanish cohort. We found no association with risk of fracture at the genotype level for any of the SNPs, and no differences in the SNP frequencies between the two groups. At the haplotype level, we found no association between the T-delT-T haplotype and fracture. However, we observed a small but significant (p=0.03) association with another rare haplotype, G-insT-T, which was slightly overrepresented in the patient group. Copyright © 2012 American Society for Bone and Mineral Research.

KW - Osteoporosis

KW - association

KW - collagen

KW - epidemiology

KW - gene/genetic research

KW - matrix proteins

KW - polymorphisms

KW - population studies

KW - snps

UR - https://www.scopus.com/pages/publications/84858725850

U2 - 10.1002/jbmr.1536

DO - 10.1002/jbmr.1536

M3 - Article

SN - 0884-0431

VL - 27

SP - 950

EP - 953

JO - Journal of Bone and Mineral Research

JF - Journal of Bone and Mineral Research

ER -

COL1A1 haplotypes and hip fracture

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