Genetic epidemiology of skeletal system aging in apparently healthy human population

Livshits, Gregory

doi:10.1016/j.mad.2004.08.020

Cited by 22 publications

(15 citation statements)

References 54 publications

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“…Thus, aromatase (CYP19) is on 15q21, where femoral neck length and shaft cross-section strength indices yielded an indication of suggestive linkage. This gene is known to be involved in height regulation [46] and bone maintenance [47][48][49], although its contribution to the geometric properties is less evident [50][51][52]. Epidermal growth factor (EGF) resides on 4q25, in close proximity to our linkages for NN_Z.…”

Section: Discussionmentioning

confidence: 99%

Proximal hip geometry is linked to several chromosomal regions: Genome-wide linkage results from the Framingham Osteoporosis Study

Demissie

Dupuis

Cupples

et al. 2007

Bone

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Section: Discussionmentioning

confidence: 99%

Proximal hip geometry is linked to several chromosomal regions: Genome-wide linkage results from the Framingham Osteoporosis Study

Demissie

Dupuis

Cupples

et al. 2007

Bone

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“…They are related to various factors (ageing, genetic, hormonal and lifestyle) that are major contributors to their onset and progression. However, there is strong evidence that genetic factors play a crucial role in the degeneration of bone and cartilage (Bateman, 2005;Livshits, 2005;Loughlin, 2005;Ralston, 2005;Spector and MacGregor, 2004).…”

Section: Introductionmentioning

confidence: 99%

Are bone losers distinguishable from bone formers in a skeletal series? Implications for adult age at death assessment methods

Schmitt

Wapler

Couallier³

et al. 2007

HOMO

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Clinical studies indicate that genetic factors play a crucial role in primary osteoarthritis and osteoporosis. In addition, it has been suggested that these two diseases are inversely related. Within a population, one can find two sub-groups: the ''bone formers'' and the ''bone losers''. The changes to the joint surfaces used to assess adult age at death are related to the loss of bone substance and to bone formation (osteophytes). The modification of these indicators with age differs between bone formers and bone losers. Therefore, age-at-death assessment methods should make use of two standards, one for each sub-group. A preliminary study examining the possibility of distinguishing those who lose cortical bone from those who show signs of bony formation was conducted on a series of skeletons from Portugal, dating to the end of 19th century and the beginning of the 20th. Bone loss was evaluated using the cortical index (CI) of the second metacarpal on X-rays. The presence of osteophytes on dry bones was assessed macroscopically.Our study indicates that females' CI decreases with age, whereas the presence of osteophytes is strongly related to age in both sexes. But we have failed to find the inverse relationship Re´sumeD e nombreuses e´tudes de´montrent que les facteurs ge´ne´tiques jouent un roˆle crucial dans le de´veloppement de l'arthrose et de l'oste´oporose et que ces deux maladies sont inversement proportionnelles. En effet, au sein d'une meˆme population, deux groupes se distinguent: les )bone fomers* (ceux qui fabriquent de la substance osseuse) et les )bone losers* (ceux qui ont tendance a`la perdre). Or, les modifications des surfaces articulaires utilise´es pour estimer l'aˆge au de´ce`s des adultes sont lie´es a`la formation et a`la perte de substance osseuse. Par conse´quent, ces indicateurs e´voluent diffe´remment selon la cate´gorie a`laquelle l'individu appartient. Chaque me´thode devrait donc proposer deux standards diffe´rents. Pour tester cette hypothe`se, une e´tude pre´liminaire a e´te´mene´e sur une se´rie de squelettes portugais (fin du 19 ie`me /de´but du 20 ie`me sie`cle). Son objectif est de savoir s'il est possible de distinguer les )bone formers* des )bone losers*. La perte osseuse a e´te´e´value´e par l'index cortical du second me´tacarpien sur radiographies. La pre´sence d'oste´ophytes a e´te´diagnostique´e sur os sec. La relation inverse entre les oste´ophytes et la perte osseuse n'a pas e´te´de´montre´e. Par conse´quent, la tentative de distinguer les )bone losers* et les )bone formers* s'est re´ve´le´e infructueuse. Toutefois, notre e´tude indique que certains individus ne de´veloppent pas d'oste´ophytes.

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“…The importance of the OPG/ RANK/RANKL signaling pathway in skeletal physiology [20] was the main reason for including the corresponding phenotypes in this study. Preliminary statistical and quantitative genetic analyses for OPG, RANKL, and TOTKL in this population have been reported by us previously [44,45] and are briefly given in the "Results" section for completeness.…”

Section: Discussionmentioning

confidence: 99%

A significant association exists between receptor tyrosine kinase-like orphan receptor 2 gene variants and the OPG/RANKL ratio in human plasma

et al. 2011

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Genetic epidemiology of skeletal system aging in apparently healthy human population

Cited by 22 publications

References 54 publications

Proximal hip geometry is linked to several chromosomal regions: Genome-wide linkage results from the Framingham Osteoporosis Study

Proximal hip geometry is linked to several chromosomal regions: Genome-wide linkage results from the Framingham Osteoporosis Study

Are bone losers distinguishable from bone formers in a skeletal series? Implications for adult age at death assessment methods

A significant association exists between receptor tyrosine kinase-like orphan receptor 2 gene variants and the OPG/RANKL ratio in human plasma

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