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Use of Mendelian Randomization to examine causal inference in osteoporosis

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Use of Mendelian Randomization to examine causal inference in osteoporosis. / Zheng, Jie; Frysz, Monika; Kemp, John P; Evans, David; Davey Smith, George; Tobias, Jonathan H.

In: Frontiers in Endocrinology, Vol. 10, 807, 21.11.2019.

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@article{678c2cfba3944c65b9d72468fcefc550,
title = "Use of Mendelian Randomization to examine causal inference in osteoporosis",
abstract = "Epidemiological studies have identified many risk factors for osteoporosis, however it is unclear whether these observational associations reflect true causal effects, or the effects of latent confounding or reverse causality. Mendelian randomization (MR) enables causal relationships to be evaluated, by examining the relationship between genetic susceptibility to the risk factor in question, and the disease outcome of interest. This has been facilitated by the development of two-sample MR analysis, where the exposure and outcome are measured indifferent studies, and by exploiting summary result statistics from large well-powered genomewide association studies that are available for thousands of traits. Though MR has several inherent limitations, the field is rapidly evolving and at least 14 methodological extensions have been developed to overcome these. The present paper aims to discuss some of the limitations in the MR analytical framework, and how this method has been applied to the osteoporosis field, helping to reinforce conclusions about causality, and discovering potential new regulatory pathways, exemplified by our recent MR study of sclerostin.",
keywords = "bone mineral density (BMD), fractures - bone, pleiotropy, sclerostin, GWAS - genome-wide association study",
author = "Jie Zheng and Monika Frysz and Kemp, {John P} and David Evans and {Davey Smith}, George and Tobias, {Jonathan H}",
year = "2019",
month = "11",
day = "21",
doi = "10.3389/fendo.2019.00807",
language = "English",
volume = "10",
journal = "Frontiers in Endocrinology",
issn = "1664-2392",
publisher = "Frontiers Media S.A.",

}

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TY - JOUR

T1 - Use of Mendelian Randomization to examine causal inference in osteoporosis

AU - Zheng, Jie

AU - Frysz, Monika

AU - Kemp, John P

AU - Evans, David

AU - Davey Smith, George

AU - Tobias, Jonathan H

PY - 2019/11/21

Y1 - 2019/11/21

N2 - Epidemiological studies have identified many risk factors for osteoporosis, however it is unclear whether these observational associations reflect true causal effects, or the effects of latent confounding or reverse causality. Mendelian randomization (MR) enables causal relationships to be evaluated, by examining the relationship between genetic susceptibility to the risk factor in question, and the disease outcome of interest. This has been facilitated by the development of two-sample MR analysis, where the exposure and outcome are measured indifferent studies, and by exploiting summary result statistics from large well-powered genomewide association studies that are available for thousands of traits. Though MR has several inherent limitations, the field is rapidly evolving and at least 14 methodological extensions have been developed to overcome these. The present paper aims to discuss some of the limitations in the MR analytical framework, and how this method has been applied to the osteoporosis field, helping to reinforce conclusions about causality, and discovering potential new regulatory pathways, exemplified by our recent MR study of sclerostin.

AB - Epidemiological studies have identified many risk factors for osteoporosis, however it is unclear whether these observational associations reflect true causal effects, or the effects of latent confounding or reverse causality. Mendelian randomization (MR) enables causal relationships to be evaluated, by examining the relationship between genetic susceptibility to the risk factor in question, and the disease outcome of interest. This has been facilitated by the development of two-sample MR analysis, where the exposure and outcome are measured indifferent studies, and by exploiting summary result statistics from large well-powered genomewide association studies that are available for thousands of traits. Though MR has several inherent limitations, the field is rapidly evolving and at least 14 methodological extensions have been developed to overcome these. The present paper aims to discuss some of the limitations in the MR analytical framework, and how this method has been applied to the osteoporosis field, helping to reinforce conclusions about causality, and discovering potential new regulatory pathways, exemplified by our recent MR study of sclerostin.

KW - bone mineral density (BMD)

KW - fractures - bone

KW - pleiotropy

KW - sclerostin

KW - GWAS - genome-wide association study

U2 - 10.3389/fendo.2019.00807

DO - 10.3389/fendo.2019.00807

M3 - Article

C2 - 31824424

VL - 10

JO - Frontiers in Endocrinology

JF - Frontiers in Endocrinology

SN - 1664-2392

M1 - 807

ER -