📇 Rhumatologue · CHAMBERY CEDEX · (73) · Salarié

MME Pomme MORIN

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14 articles scientifiques publiés — formation continue solide
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151.5 rhumatos / 100 000 hab. — département bien doté

Rhumatologue

📍 CHAMBERY CEDEX (73)SalariéRPPS 10101607637

✨ Génération du profil synthétique IA en cours…

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CHMS - SITE CHAMBERY MCO
PL LUCIEN BISET BP 31125, 73011 CHAMBERY CEDEX
☎ 0479965050Activité de soin et de pharmacie

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Top publications · les plus citées

Genome screen for QTLs contributing to normal variation in bone mineral density and osteoporosis

The Journal of clinical endocrinology and metabolism · 2000

📚 163 citations🎯 RCR 3.84Top 11% NIH🩺 Clinique🔓 Open Access📄 PDF gratuit ↗

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Abstract A major determinant of the risk for osteoporosis is peak bone mineral density (BMD), which is largely determined by genetic factors. We recently reported linkage of peak BMD in a large sample of healthy sister pairs to chromosome 11q12–13. To identify additional loci underlying normal variations in peak BMD, we conducted an autosomal genome screen in 429 Caucasian sister pairs. Multipoint LOD scores were computed for BMD at four skeletal sites. Chromosomal regions with LOD scores above 1.85 were further pursued in an expanded sample of 595 sister pairs (464 Caucasians and 131 African-Americans). The highest LOD score attained in the expanded sample was 3.86 at chromosome 1q21–23 with lumbar spine BMD. Chromosome 5q33–35 gave a LOD score of 2.23 with femoral neck BMD. At chromosome 6p11–12, the 464 Caucasian pairs achieved a LOD score of 2.13 with lumbar spine BMD. Markers within the 11q12–13 region continued to support linkage to femoral neck BMD, although the peak LOD score was decreased to 2.16 in the sample of 595 sibling pairs. Our study is the largest genome screen to date for genes underlying variations in peak BMD and represents an important step toward identifying genes contributing to osteoporosis in the general population.

Trends and Disparities in Osteoporosis Screening Among Women in the United States, 2008-2014

The American journal of medicine · 2017

📚 115 citations🎯 RCR 6.60Top 5% NIH🔓 Open Access📄 PDF gratuit ↗

Linkage of a QTL contributing to normal variation in bone mineral density to chromosome 11q12-13

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 1998

📚 107 citations🎯 RCR 2.52Top 20% NIH🔓 Open Access📄 PDF gratuit ↗

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Abstract Osteoporosis is a leading public health problem that is responsible for substantial morbidity and mortality. A major determinant of the risk for osteoporosis in later life is bone mineral density (BMD) attained during early adulthood. BMD is a complex trait that presumably is influenced by multiple genes. Recent linkage of three Mendelian BMD-related phenotypes, autosomal dominant high bone mass, autosomal recessive osteoporosis-pseudoglioma, and autosomal recessive osteopetrosis to chromosome 11q12–13 led us to evaluate this region to determine if the underlying gene(s) could also contribute to variation in BMD in the normal population. We performed a linkage study in a sample of 835 premenopausal Caucasian and African–American sisters to identify genes underlying BMD variation. A maximum multipoint LOD score of 3.50 with femoral neck BMD was obtained near the marker D11S987, in the same chromosomal region as the three Mendelian traits mentioned above. Our results suggest that the gene(s) underlying these Mendelian phenotypes also play a role in determining peak BMD in the normal population and are the first using linkage methods to establish a chromosomal location for a gene important in determining peak BMD. These findings support the hypothesis that a gene responsible for one or more of the rare Mendelian BMD traits linked to chromosome 11q12–13 has an important role in osteoporosis in the general population.

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MME Pomme MORIN

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Top publications · les plus citées

Publications scientifiques (14) — classées par pathologie

Transversal9

Génétique3

Anti-TNF1

csDMARDs1

Sclérodermie1

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