Kwak, So-Young
(Department of Public Health Sciences, BK21PLUS Program in Embodiment: Health-Society Interaction, Graduate School, Korea University)
Cho, Yoonsu (Department of Public Health Sciences, BK21PLUS Program in Embodiment: Health-Society Interaction, Graduate School, Korea University) Oh, Hannah (Department of Public Health Sciences, BK21PLUS Program in Embodiment: Health-Society Interaction, Graduate School, Korea University) Shin, Min-Jeong (Department of Public Health Sciences, BK21PLUS Program in Embodiment: Health-Society Interaction, Graduate School, Korea University) |
1 | Forman JP, Giovannucci E, Holmes MD, Bischoff-Ferrari HA, Tworoger SS, Willett WC, Curhan GC. Plasma 25-hydroxyvitamin D levels and risk of incident hypertension. Hypertension 2007;49:1063-9. DOI |
2 | Scragg R, Sowers M, Bell C; Third National Health and Nutrition Examination Survey. Serum 25-hydroxyvitamin D, diabetes, and ethnicity in the Third National Health and Nutrition Examination Survey. Diabetes Care 2004;27:2813-8. DOI |
3 | Awumey EM, Mitra DA, Hollis BW, Kumar R, Bell NH. Vitamin D metabolism is altered in Asian Indians in the southern United States: a clinical research center study. J Clin Endocrinol Metab 1998;83:169-73. DOI |
4 | Verbanck M, Chen CY, Neale B, Do R. Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases. Nat Genet 2018;50:693-8. DOI |
5 | Dastani Z, Li R, Richards B. Genetic regulation of vitamin D levels. Calcif Tissue Int 2013;92:106-17. DOI |
6 | Vimaleswaran KS, Cavadino A, Berry DJ; LifeLines Cohort Study Investigators, Jorde R, Dieffenbach AK, Lu C, Alves AC, Heerspink HJ, Tikkanen E, Eriksson J, Wong A, Mangino M, Jablonski KA, Nolte IM, Houston DK, Ahluwalia TS, van der Most PJ, Pasko D, Zgaga L, Thiering E, Vitart V, Fraser RM, Huffman JE, de Boer RA, Schottker B, Saum KU, McCarthy MI, Dupuis J, Herzig KH, Sebert S, Pouta A, Laitinen J, Kleber ME, Navis G, Lorentzon M, Jameson K, Arden N, Cooper JA, Acharya J, Hardy R, Raitakari O, Ripatti S, Billings LK, Lahti J, Osmond C, Penninx BW, Rejnmark L, Lohman KK, Paternoster L, Stolk RP, Hernandez DG, Byberg L, Hagstrom E, Melhus H, Ingelsson E, Mellstrom D, Ljunggren O, Tzoulaki I, McLachlan S, Theodoratou E, Tiesler CM, Jula A, Navarro P, Wright AF, Polasek O; International Consortium for Blood Pressure (ICBP); Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium; Global Blood Pressure Genetics (Global BPGen) Consortium; Caroline Hayward, Wilson JF, Rudan I, Salomaa V, Heinrich J, Campbell H, Price JF, Karlsson M, Lind L, Michaelsson K, Bandinelli S, Frayling TM, Hartman CA, Sorensen TI, Kritchevsky SB, Langdahl BL, Eriksson JG, Florez JC, Spector TD, Lehtimaki T, Kuh D, Humphries SE, Cooper C, Ohlsson C, Marz W, de Borst MH, Kumari M, Kivimaki M, Wang TJ, Power C, Brenner H, Grimnes G, van der Harst P, Snieder H, Hingorani AD, Pilz S, Whittaker JC, Jarvelin MR, Hypponen E. Association of vitamin D status with arterial blood pressure and hypertension risk: a mendelian randomisation study. Lancet Diabetes Endocrinol 2014;2:719-29. DOI |
7 | Wang TJ, Zhang F, Richards JB, Kestenbaum B, van Meurs JB, Berry D, Kiel DP, Streeten EA, Ohlsson C, Koller DL, Peltonen L, Cooper JD, O'Reilly PF, Houston DK, Glazer NL, Vandenput L, Peacock M, Shi J, Rivadeneira F, McCarthy MI, Anneli P, de Boer IH, Mangino M, Kato B, Smyth DJ, Booth SL, Jacques PF, Burke GL, Goodarzi M, Cheung CL, Wolf M, Rice K, Goltzman D, Hidiroglou N, Ladouceur M, Wareham NJ, Hocking LJ, Hart D, Arden NK, Cooper C, Malik S, Fraser WD, Hartikainen AL, Zhai G, Macdonald HM, Forouhi NG, Loos RJ, Reid DM, Hakim A, Dennison E, Liu Y, Power C, Stevens HE, Jaana L, Vasan RS, Soranzo N, Bojunga J, Psaty BM, Lorentzon M, Foroud T, Harris TB, Hofman A, Jansson JO, Cauley JA, Uitterlinden AG, Gibson Q, Jarvelin MR, Karasik D, Siscovick DS, Econs MJ, Kritchevsky SB, Florez JC, Todd JA, Dupuis J, Hypponen E, Spector TD. Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet 2010;376:180-8. DOI |
8 | Kunutsor SK, Burgess S, Munroe PB, Khan H. Vitamin D and high blood pressure: causal association or epiphenomenon? Eur J Epidemiol 2014;29:1-14. DOI |
9 | Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ, Johansen CT, Fouchier SW, Isaacs A, Peloso GM, Barbalic M, Ricketts SL, Bis JC, Aulchenko YS, Thorleifsson G, Feitosa MF, Chambers J, Orho-Melander M, Melander O, Johnson T, Li X, Guo X, Li M, Shin Cho Y, Jin Go M, Jin Kim Y, Lee JY, Park T, Kim K, Sim X, Twee-Hee Ong R, Croteau-Chonka DC, Lange LA, Smith JD, Song K, Hua Zhao J, Yuan X, Luan J, Lamina C, Ziegler A, Zhang W, Zee RY, Wright AF, Witteman JC, Wilson JF, Willemsen G, Wichmann HE, Whitfield JB, Waterworth DM, Wareham NJ, Waeber G, Vollenweider P, Voight BF, Vitart V, Uitterlinden AG, Uda M, Tuomilehto J, Thompson JR, Tanaka T, Surakka I, Stringham HM, Spector TD, Soranzo N, Smit JH, Sinisalo J, Silander K, Sijbrands EJ, Scuteri A, Scott J, Schlessinger D, Sanna S, Salomaa V, Saharinen J, Sabatti C, Ruokonen A, Rudan I, Rose LM, Roberts R, Rieder M, Psaty BM, Pramstaller PP, Pichler I, Perola M, Penninx BW, Pedersen NL, Pattaro C, Parker AN, Pare G, Oostra BA, O'Donnell CJ, Nieminen MS, Nickerson DA, Montgomery GW, Meitinger T, McPherson R, McCarthy MI, McArdle W, Masson D, Martin NG, Marroni F, Mangino M, Magnusson PK, Lucas G, Luben R, Loos RJ, Lokki ML, Lettre G, Langenberg C, Launer LJ, Lakatta EG, Laaksonen R, Kyvik KO, Kronenberg F, Konig IR, Khaw KT, Kaprio J, Kaplan LM, Johansson A, Jarvelin MR, Janssens AC, Ingelsson E, Igl W, Kees Hovingh G, Hottenga JJ, Hofman A, Hicks AA, Hengstenberg C, Heid IM, Hayward C, Havulinna AS, Hastie ND, Harris TB, Haritunians T, Hall AS, Gyllensten U, Guiducci C, Groop LC, Gonzalez E, Gieger C, Freimer NB, Ferrucci L, Erdmann J, Elliott P, Ejebe KG, Doring A, Dominiczak AF, Demissie S, Deloukas P, de Geus EJ, de Faire U, Crawford G, Collins FS, Chen YD, Caulfield MJ, Campbell H, Burtt NP, Bonnycastle LL, Boomsma DI, Boekholdt SM, Bergman RN, Barroso I, Bandinelli S, Ballantyne CM, Assimes TL, Quertermous T, Altshuler D, Seielstad M, Wong TY, Tai ES, Feranil AB, Kuzawa CW, Adair LS, Taylor HA Jr, Borecki IB, Gabriel SB, Wilson JG, Holm H, Thorsteinsdottir U, Gudnason V, Krauss RM, Mohlke KL, Ordovas JM, Munroe PB, Kooner JS, Tall AR, Hegele RA, Kastelein JJ, Schadt EE, Rotter JI, Boerwinkle E, Strachan DP, Mooser V, Stefansson K, Reilly MP, Samani NJ, Schunkert H, Cupples LA, Sandhu MS, Ridker PM, Rader DJ, van Duijn CM, Peltonen L, Abecasis GR, Boehnke M, Kathiresan S. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010;466:707-13. DOI |
10 | Cheng JB, Levine MA, Bell NH, Mangelsdorf DJ, Russell DW. Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. Proc Natl Acad Sci U S A 2004;101:7711-5. DOI |
11 | Ahn J, Yu K, Stolzenberg-Solomon R, Simon KC, McCullough ML, Gallicchio L, Jacobs EJ, Ascherio A, Helzlsouer K, Jacobs KB, Li Q, Weinstein SJ, Purdue M, Virtamo J, Horst R, Wheeler W, Chanock S, Hunter DJ, Hayes RB, Kraft P, Albanes D. Genome-wide association study of circulating vitamin D levels. Hum Mol Genet 2010;19:2739-45. DOI |
12 | Berry DJ, Vimaleswaran KS, Whittaker JC, Hingorani AD, Hypponen E. Evaluation of genetic markers as instruments for Mendelian randomization studies on vitamin D. PLoS One 2012;7:e37465. DOI |
13 | Bikle D. Vitamin D: production, metabolism, and mechanisms of action. In: Feingold KR, Anawalt B, Boyce A, Chrousos G, Dungan K, Grossman A, Hershman JM, Kaltsas G, Koch C, Kopp P, Korbonits M, McLachlan R, Morley JE, New M, Perreault L, Purnell J, Rebar R, Singer F, Trence DL, Vinik A, Wilson DP, editors. Endotext. South Dartmouth (MA): MDText.com, Inc.; 2000. |
14 | Burgess S, Bowden J, Fall T, Ingelsson E, Thompson SG. Sensitivity analyses for robust causal inference from Mendelian randomization analyses with multiple genetic variants. Epidemiology 2017;28:30-42. DOI |
15 | Nitsch D, Molokhia M, Smeeth L, DeStavola BL, Whittaker JC, Leon DA. Limits to causal inference based on Mendelian randomization: a comparison with randomized controlled trials. Am J Epidemiol 2006;163:397-403. DOI |
16 | Lu L, Bennett DA, Millwood IY, Parish S, McCarthy MI, Mahajan A, Lin X, Bragg F, Guo Y, Holmes MV, Afzal S, Nordestgaard BG, Bian Z, Hill M, Walters RG, Li L, Chen Z, Clarke R. Association of vitamin D with risk of type 2 diabetes: a Mendelian randomisation study in European and Chinese adults. PLoS Med 2018;15:e1002566. DOI |
17 | Mokry LE, Ross S, Ahmad OS, Forgetta V, Smith GD, Goltzman D, Leong A, Greenwood CM, Thanassoulis G, Richards JB. Vitamin D and risk of multiple sclerosis: a Mendelian randomization study. PLoS Med 2015;12:e1001866. DOI |
18 | Ong JS, Hwang LD, Cuellar-Partida G, Martin NG, Chenevix-Trench G, Quinn MCJ, Cornelis MC, Gharahkhani P, Webb PM, MacGregor S; Ovarian Cancer Association Consortium. Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study. Int J Epidemiol 2018;47:450-9. DOI |
19 | Afzal S, Brondum-Jacobsen P, Bojesen SE, Nordestgaard BG. Genetically low vitamin D concentrations and increased mortality: Mendelian randomisation analysis in three large cohorts. BMJ 2014;349:g6330. DOI |
20 | Jolliffe DA, Walton RT, Griffiths CJ, Martineau AR. Single nucleotide polymorphisms in the vitamin D pathway associating with circulating concentrations of vitamin D metabolites and non-skeletal health outcomes: review of genetic association studies. J Steroid Biochem Mol Biol 2016;164:18-29. DOI |
21 | Kweon S, Kim Y, Jang MJ, Kim Y, Kim K, Choi S, Chun C, Khang YH, Oh K. Data resource profile: the Korea National Health and Nutrition Examination Survey (KNHANES). Int J Epidemiol 2014;43:69-77. DOI |
22 | Lee SH, Kang MI, Ahn SH, Lim KH, Lee GE, Shin ES, Lee JE, Kim BJ, Cho EH, Kim SW, Kim TH, Kim HJ, Yoon KH, Lee WC, Kim GS, Koh JM, Kim SY. Common and rare variants in the exons and regulatory regions of osteoporosis-related genes improve osteoporotic fracture risk prediction. J Clin Endocrinol Metab 2014;99:E2400-11. DOI |
23 | Anderson D, Holt BJ, Pennell CE, Holt PG, Hart PH, Blackwell JM. Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study. Genes Immun 2014;15:578-83. DOI |
24 | Sapkota BR, Hopkins R, Bjonnes A, Ralhan S, Wander GS, Mehra NK, Singh JR, Blackett PR, Saxena R, Sanghera DK. Genome-wide association study of 25(OH) vitamin D concentrations in Punjabi Sikhs: results of the Asian Indian diabetic heart study. J Steroid Biochem Mol Biol 2016;158:149-56. DOI |
25 | Friedewald WT, Levy RI, Fredrickson DS. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chem 1972;18:499-502. DOI |
26 | Holick MF. Vitamin D deficiency. N Engl J Med 2007;357:266-81. DOI |
27 | Cuellar-Partida G, Williams KM, Yazar S, Guggenheim JA, Hewitt AW, Williams C, Wang JJ, Kho PF, Saw SM, Cheng CY, Wong TY, Aung T, Young TL, Tideman JW, Jonas JB; Consortium for Refractive Error and Myopia (CREAM), Mitchell P, Wojciechowski R, Stambolian D, Hysi P, Hammond CJ, Mackey DA, Lucas RM, MacGregor S. Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study. Int J Epidemiol 2017;46:1882-90. DOI |
28 | Ke L, Mason RS, Kariuki M, Mpofu E, Brock KE. Vitamin D status and hypertension: a review. Integr Blood Press Control 2015;8:13-35. DOI |
29 | Kunutsor SK, Apekey TA, Steur M. Vitamin D and risk of future hypertension: meta-analysis of 283,537 participants. Eur J Epidemiol 2013;28:205-21. DOI |
30 | Korea Centers for Disease Control and Prevention. Standard Operating Procedures of Korea Biobank Network. Cheongju: Korea Centers for Disease Control and Prevention; 2015. |
31 | Kim OY, Moon J, Jo G, Kwak SY, Kim JY, Shin MJ. Apolipoprotein A5 3'-UTR variants and cardiometabolic traits in Koreans: results from the Korean genome and epidemiology study and the Korea National Health and Nutrition Examination Survey. Nutr Res Pract 2018;12:61-8. DOI |
32 | Autier P, Boniol M, Pizot C, Mullie P. Vitamin D status and ill health: a systematic review. Lancet Diabetes Endocrinol 2014;2:76-89. DOI |
33 | Golzarand M, Shab-Bidar S, Koochakpoor G, Speakman J R, Djafarian K. Effect of vitamin D3 supplementation on blood pressure in adults: an updated meta-analysis. Nutr Metab Cardiovasc Dis 2016;26:663-73. DOI |
34 | Vimaleswaran KS, Berry DJ, Lu C, Tikkanen E, Pilz S, Hiraki LT, Cooper JD, Dastani Z, Li R, Houston DK, Wood AR, Michaelsson K, Vandenput L, Zgaga L, Yerges-Armstrong LM, McCarthy MI, Dupuis J, Kaakinen M, Kleber ME, Jameson K, Arden N, Raitakari O, Viikari J, Lohman KK, Ferrucci L, Melhus H, Ingelsson E, Byberg L, Lind L, Lorentzon M, Salomaa V, Campbell H, Dunlop M, Mitchell BD, Herzig KH, Pouta A, Hartikainen AL, Streeten EA, Theodoratou E, Jula A, Wareham NJ, Ohlsson C, Frayling TM, Kritchevsky SB, Spector TD, Richards JB, Lehtimaki T, Ouwehand WH, Kraft P, Cooper C, Marz W, Power C, Loos RJ, Wang TJ, Jarvelin MR, Whittaker JC, Hingorani AD, Hypponen E; Genetic Investigation of Anthropometric Traits-GIANT Consortium. Causal relationship between obesity and vitamin D status: bi-directional Mendelian randomization analysis of multiple cohorts. PLoS Med 2013;10:e1001383. DOI |
35 |
Scragg R, Holdaway I, Jackson R, Lim T. Plasma 25-hydroxyvitamin |
36 | Davey Smith G, Hemani G. Mendelian randomization: genetic anchors for causal inference in epidemiological studies. Hum Mol Genet 2014;23:R89-98. DOI |
37 | Jiang X, O'Reilly PF, Aschard H, Hsu YH, Richards JB, Dupuis J, Ingelsson E, Karasik D, Pilz S, Berry D, Kestenbaum B, Zheng J, Luan J, Sofianopoulou E, Streeten EA, Albanes D, Lutsey PL, Yao L, Tang W, Econs MJ, Wallaschofski H, Volzke H, Zhou A, Power C, McCarthy MI, Michos ED, Boerwinkle E, Weinstein SJ, Freedman ND, Huang WY, Van Schoor NM, van der Velde N, Groot LC, Enneman A, Cupples LA, Booth SL, Vasan RS, Liu CT, Zhou Y, Ripatti S, Ohlsson C, Vandenput L, Lorentzon M, Eriksson JG, Shea MK, Houston DK, Kritchevsky SB, Liu Y, Lohman KK, Ferrucci L, Peacock M, Gieger C, Beekman M, Slagboom E, Deelen J, Heemst DV, Kleber ME, Marz W, de Boer IH, Wood AC, Rotter JI, Rich SS, Robinson-Cohen C, den Heijer M, Jarvelin MR, Cavadino A, Joshi PK, Wilson JF, Hayward C, Lind L, Michaelsson K, Trompet S, Zillikens MC, Uitterlinden AG, Rivadeneira F, Broer L, Zgaga L, Campbell H, Theodoratou E, Farrington SM, Timofeeva M, Dunlop MG, Valdes AM, Tikkanen E, Lehtimaki T, Lyytikainen LP, Kahonen M, Raitakari OT, Mikkila V, Ikram MA, Sattar N, Jukema JW, Wareham NJ, Langenberg C, Forouhi NG, Gundersen TE, Khaw KT, Butterworth AS, Danesh J, Spector T, Wang TJ, Hypponen E, Kraft P, Kiel DP. Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels. Nat Commun 2018;9:260. DOI |
38 | Skaaby T, Husemoen LL, Martinussen T, Thyssen JP, Melgaard M, Thuesen BH, Pisinger C, Jorgensen T, Johansen JD, Menne T, Carlsen B, Szecsi PB, Stender S, Fenger RV, Fenger M, Linneberg A. Vitamin D status, filaggrin genotype, and cardiovascular risk factors: a Mendelian randomization approach. PLoS One 2013;8:e57647. DOI |
39 | Gama R, Waldron JL, Ashby HL, Cornes MP, Bechervaise J, Razavi C, Thomas OL, Chugh S, Deshpande S, Ford C. Hypovitaminosis D and disease: consequence rather than cause? BMJ 2012;345:e5706. DOI |
40 | Guessous I. Role of vitamin D deficiency in extraskeletal complications: predictor of health outcome or marker of health status? BioMed Res Int 2015;2015:563403. DOI |
41 | Smith GD, Ebrahim S. 'Mendelian randomization': can genetic epidemiology contribute to understanding environmental determinants of disease? Int J Epidemiol 2003;32:1-22. DOI |
42 | Davies NM, Holmes MV, Davey Smith G. Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians. BMJ 2018;362:k601. DOI |
43 | Kim MK, Il Kang M, Won Oh K, Kwon HS, Lee JH, Lee WC, Yoon KH, Son HY. The association of serum vitamin D level with presence of metabolic syndrome and hypertension in middle-aged Korean subjects. Clin Endocrinol (Oxf) 2010;73:330-8. DOI |
44 | Kim D, Kim J. Age and sex differences in the relationship between serum 25-hydroxyvitamin D and hypertension in the general Korean population. Eur J Clin Nutr 2016;70:326-32. DOI |
![]() |