Genome-Wide Association Study of Serum 25-Hydroxyvitamin D in US Women
O'Brien KM, Sandler DP, Shi M, Harmon QE, Taylor JA, Weinberg CR
Frontiers in genetics · 32 citas
Cómo se estudió
- Diseño
- Estudio de cohortes (clasificado por nuestro filtro de IA)
- Estudiado en
- Personas
- Resultado principal
- Marcadores de salud y funcionamiento
Quién lo pagó
- Financiación
- Financiación independiente
- Gobierno
- Office of Dietary Supplements
- Gobierno
- National Institutes of Health
- Gobierno
- Intramural NIH HHS
- Subvenciones
- National Institutes of Health (Z01-ES102245); National Institutes of Health (Z01 ES049033); National Institutes of Health (Z01‐ES044005)
Según 3 financiadores declarados.
Publicación
- Publicado
- 2018-03-01 · Front Genet · vol. 9 · pág. 67
- Editorial
- Frontiers Media
- Citado
- 43 citas · más que el 94% de estudios similares · 3.7× el promedio de su campo
- Impacto
- Entre el 10 % más citado de su campo
- Referencias
- 58 trabajos
- Acceso
- Acceso abierto (revista) · CC-BY
- Áreas de investigación
- Vitamin D Research Studies · Nutrition, Genetics, and Disease
- Palabras clave
- Single-nucleotide polymorphism, Vitamin D and neurology, Minor allele frequency, Vitamin D-binding protein, Breast cancer, vitamin D deficiency, Internal medicine, Genetics, Biology, Medicine, Genotype, Cancer, Gene
6 autores
- Katie M. O’Brien🇺🇸 · autor de correspondenciaNational Institute of Environmental Health Sciences
- Dale P. Sandler🇺🇸National Institute of Environmental Health Sciences
- Min Shi🇺🇸National Institute of Environmental Health Sciences
- Quaker E. Harmon🇺🇸National Institute of Environmental Health Sciences
- Jack A. Taylor🇺🇸National Institute of Environmental Health Sciences
- Clarice Ring Weinberg🇺🇸National Institute of Environmental Health Sciences
Resumen
El texto original del estudio, en el idioma en que se publicó.
Genetic factors likely influence individuals' concentrations of 25-hydroxyvitamin D [25(OH)D], a biomarker of vitamin D exposure previously linked to reduced risk of several chronic diseases. We conducted a genome-wide association study of serum 25(OH)D (assessed using liquid chromatography-tandem mass spectrometry) and 386,449 single nucleotide polymorphisms (SNPs). Our sample consisted of 1,829 participants randomly selected from the Sister Study, a cohort of women who had a sister with breast cancer but had never had breast cancer themselves. 19,741 SNPs were associated with 25(OH)D (p p -8). These were located in or near GC, the vitamin D binding protein, or CYP2R1, a cytochrome P450 enzyme that hydroxylates vitamin D to form 25(OH)D. The top hit was rs4588, a missense GC polymorphism associated with a 3.5 ng/mL decrease in 25(OH)D per copy of the minor allele (95% confidence interval [CI]: -4.1, -3.0; p = 4.5 × 10-38). The strongest SNP near CYP2R1 was rs12794714, a synonymous variant (p = 3.8 × 10-12; β = 1.8 ng/mL decrease in 25(OH)D per minor allele [CI: -2.2, -1.3]). Serum 25(OH)D concentrations from samples collected from some participants 3-10 years after baseline (811 cases, 780 non-cases) were also strongly associated with both loci. These findings augment our understanding of genetic influences on 25(OH)D and the possible role of vitamin D binding proteins and cytochrome P450 enzymes in determining measured levels. These results may help to identify individuals genetically predisposed to vitamin D insufficiency.
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