Half the Genetic Variance in Vitamin D Concentration is Shared with Skin Colour and Sun Exposure Genes

Mitchell, Brittany; Zhu, Gu; Medland, Sarah E.; Rentería, Miguel E.; Eyles, Darryl W.; Grasby, Katrina L.; McGrath, John J.; Martin, Nicholas G.

doi:10.1007/s10519-019-09954-x

Cited by 17 publications

(16 citation statements)

References 45 publications

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“…= 0.02) ( Fig. 2), as found for estimates of twin heritability 6 . The genetic correlation between the seasons was 0.80 (s.e.…”

Section: Resultssupporting

confidence: 70%

“…With respect to the genetic architecture of 25OHD, twin and family studies have reported a wide range of heritability estimates (from 0% 4 to 90% 5 ). A recent multivariate twin study demonstrated that approximately half of the total additive genetic variation in 25OHD may reflect genetic variation in skin colour and sun exposure behaviour 6 . Genome-wide association studies (GWAS) have identified common single-nucleotide polymorphisms (SNPs) located in biologically plausible genes 7 .…”

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confidence: 99%

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Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration

et al. 2020

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Vitamin D deficiency is a candidate risk factor for a range of adverse health outcomes. In a genome-wide association study of 25 hydroxyvitamin D (25OHD) concentration in 417,580 Europeans we identify 143 independent loci in 112 1-Mb regions, providing insights into the physiology of vitamin D and implicating genes involved in lipid and lipoprotein metabolism, dermal tissue properties, and the sulphonation and glucuronidation of 25OHD. Mendelian randomization models find no robust evidence that 25OHD concentration has causal effects on candidate phenotypes (e.g. BMI, psychiatric disorders), but many phenotypes have (direct or indirect) causal effects on 25OHD concentration, clarifying the epidemiological relationship between 25OHD status and the health outcomes examined in this study.

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“…= 0.02) ( Fig. 2), as found for estimates of twin heritability 6 . The genetic correlation between the seasons was 0.80 (s.e.…”

Section: Resultssupporting

confidence: 70%

mentioning

confidence: 99%

Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration

et al. 2020

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“…= 0.02 vs. 0.10, s.e. = 0.02) (Figure 2), as found for estimates of twin heritability 8 . The genetic correlation between the seasons was 0.80 (s.e.…”

Section: Heritability and Snp-based Heritabilitysupporting

confidence: 67%

“…We used the Brisbane-based twin and family sample (N = 6,223) 8 pre-regressed on sex, age, month of collection, 10 ancestry PCs and imputation batch. We selected a set of 1,632 unrelated individuals from the Brisbane cohort and estimated the proportion of variance explained by the UKB genome-wide significant SNPs (or their proxies) when fitted jointly by using only these SNPs to construct a GRM and conducting a GREML analysis in GCTA.…”

Section: Replication and Out-of-sample Genetic Risk Predictionmentioning

confidence: 99%

“…With respect to the genetic architecture of 25OHD, twin and family studies have reported a wide range of heritability estimates (from 0% 6 to 90% 7 ). A recent multivariate twin study demonstrated that approximately half of the total additive genetic variation in 25OHD may reflect genetic variation in skin colour and sun exposure behaviour 8 . Genome-wide association studies (GWAS) have identified common single nucleotide polymorphisms (SNPs) located in biologically plausible genes 9 .…”

Section: Introductionmentioning

confidence: 99%

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Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration

Revez

Tian

Qiao

et al. 2019

Preprint

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AbstractVitamin D deficiency is a candidate risk factor for a range of adverse health outcomes. In a genome-wide association study of 25 hydroxyvitamin D (25OHD) concentration in 417,580 Europeans we identified 143 independent loci in 112 1-Mb regions providing new insights into the physiology of vitamin D and implicating genes involved in (a) lipid and lipoprotein metabolism, (b) dermal tissue properties, and (c) the sulphonation and glucuronidation of 25OHD. Mendelian randomization models found no robust evidence that 25OHD concentration had causal effects on candidate phenotypes (e.g. BMI, psychiatric disorders), but many phenotypes had (direct or indirect) causal effects on 25OHD concentration, clarifying the relationship between 25OHD status and health.

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What can Mendelian randomization contribute to biological anthropology?

Bonilla

Herrera

Sans

2023

American Journal of Biological Anthropology

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Uncovering causal relationships between exposures and outcomes can be difficult in observational studies because of the potential for confounding and reverse causation to produce biased estimates. Conversely, randomized controlled trials (RCTs) provide the strongest evidence for causality but they are not always feasible. Mendelian randomization (MR) is a method that aims to strengthen causal inference using genetic variants as proxies or instrumental variables (IVs) for exposures, to overcome the above-mentioned biases. Since allele segregation occurs at random from parents to offspring, and alleles for a trait assort independently from those for other traits, MR studies have frequently been compared to "natural" RCTs. In biological anthropology (BA) relationships between variables of interest are usually evaluated using observational data, often remaining descriptive, and other approaches to causal inference have seldom been implemented. Here, we propose the use of MR to investigate cause and effect relationships in BA studies and provide examples to show how that can be done across areas of BA relevance, such as adaptation to the environment, nutrition and life history theory. While we consider MR a useful addition to the biological anthropologist's toolbox, we advocate the adoption of a wide range of methods, affected by different types of biases, in order to better answer the important causal questions for the discipline.

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Half the Genetic Variance in Vitamin D Concentration is Shared with Skin Colour and Sun Exposure Genes

Cited by 17 publications

References 45 publications

Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration

Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration

Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration

What can Mendelian randomization contribute to biological anthropology?

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