Vitamin D binding protein genotype is associated with plasma 25OHD concentration in West African children.
Vitamin D binding protein genotype is associated with plasma 25OHD concentration in West African children.
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DOI：
10.1016/j.bone.2014.12.068
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发表时间：
2015-05
期刊：
影响因子：
4.1
通讯作者：
Hennig, B. J.
中科院分区：
文献类型：
--
作者：
Braithwaite, V. S.;Jones, K. S.;Schoenmakers, I.;Silver, M.;Prentice, A.;Hennig, B. J.
维生素D以其促进骨骼健康的作用而闻名。维生素D状态通常通过循环25-二羟维生素D（25 OHD）浓度来确定。有证据表明，循环25 OHD浓度受Gc（编码维生素D结合蛋白（DBP）的基因）变化的影响。两个单核苷酸多态性（rs7041和rs 4588）的复合基因型导致不同的DBP同种型（Gc 1f、Gc 1 s和Gc 2）。DBP同种型之间的蛋白质构型差异影响DBP底物结合亲和力。本研究的目的是确定1）Gc变异频率在人口从一个孤立的农村地区的冈比亚，西非（n = 3129），全年皮肤维生素D合成的机会和2）Gc变体对25 OHD浓度的影响（n = 237）在遗传代表性的儿童亚组（平均（SD）年龄：11.9（4.8）岁）。Gc变体的分布为Gc 1f：0.86，Gc 1 s：0.11和Gc 2：0.03。25 OHD的平均（SD）浓度为59.6（12.9）nmol/L，与其他Gc变异体相比，Gc 1f纯合子患者的25 OHD浓度显著更高（60.7（13.1）vs. 56.6（12.1）nmol/L，P = 0.03）。血浆25 OHD和1，25（OH）2D浓度与Gc 1f-1f中的甲状旁腺激素显著相关，但与其他Gc变体组合无关。这项研究表明，不同的Gc变体与不同的25 OHD浓度在农村冈比亚人口。Gc 1f-1f被认为对25 OHD具有最高亲和力，与亲和力较低的Gc变体相比，其25 OHD浓度最高。在冈比亚人中观察到的Gc 1f频率与其他非西非人群的显著差异以及血浆25 OHD浓度的相关差异，可能会对不同祖先群体中维生素D状态的解释方式产生影响。我们对3129名冈比亚农村居民的维生素D结合蛋白（Gc）进行了基因分型。GC变体分布为Gc 1f：0.86，Gc 1 s：0.11和Gc 2：0.03。Gc 1f-1f中的25 OHD浓度高于其他Gc变体。
Vitamin D is well known for its role in promoting skeletal health. Vitamin D status is determined conventionally by circulating 25-dihydroxyvitamin D (25OHD) concentration. There is evidence indicating that circulating 25OHD concentration is affected by variation in Gc, the gene encoding the vitamin D binding protein (DBP). The composite genotype of two single nucleotide polymorphisms (rs7041 and rs4588) results in different DBP isotypes (Gc1f, Gc1s and Gc2). The protein configurational differences among DBP isotypes affect DBP substrate binding affinity. The aims of this study were to determine 1) Gc variant frequencies in a population from an isolated rural region of The Gambia, West Africa (n = 3129) with year-round opportunity for cutaneous vitamin D synthesis and 2) the effects of Gc variants on 25OHD concentration (n = 237) in a genetically representative sub-group of children (mean (SD) age: 11.9 (4.8) years). The distribution of Gc variants was Gc1f: 0.86, Gc1s: 0.11 and Gc2: 0.03. The mean (SD) concentration of 25OHD was 59.6 (12.9) nmol/L and was significantly higher in those homozygous for Gc1f compared to other Gc variants (60.7 (13.1) vs. 56.6 (12.1) nmol/L, P = 0.03). Plasma 25OHD and 1,25(OH)2D concentration was significantly associated with parathyroid hormone in Gc1f-1f but not in the other Gc variants combined. This study demonstrates that different Gc variants are associated with different 25OHD concentrations in a rural Gambian population. Gc1f-1f, thought to have the highest affinity for 25OHD, had the highest 25OHD concentration compared with lower affinity Gc variants. The considerable difference in Gc1f frequency observed in Gambians compared with other non-West African populations and associated differences in plasma 25OHD concentration, may have implications for the way in which vitamin D status should be interpreted across different ancestral groups. We genotyped vitamin D binding protein (Gc) in 3129 rural Gambians. GC variant distribution is Gc1f: 0.86, Gc1s: 0.11 and Gc2: 0.03. 25OHD concentrations are higher in Gc1f-1f compared to the other Gc variants.
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影响因子：
168.9
作者：
Wang, Thomas J.;Zhang, Feng;Richards, J. Brent;Kestenbaum, Bryan;van Meurs, Joyce B.;Berry, Diane;Kiel, Douglas P.;Streeten, Elizabeth A.;Ohlsson, Claes;Koller, Daniel L.;Peltonen, Leena;Cooper, Jason D.;O'Reilly, Paul F.;Houston, Denise K.;Glazer, Nicole L.;Vandenput, Liesbeth;Peacock, Munro;Shi, Julia;Rivadeneira, Fernando;McCarthy, Mark I.;Anneli, Pouta;de Boer, Ian H.;Mangino, Massimo;Kato, Bernet;Smyth, Deborah J.;Booth, Sarah L.;Jacques, Paul F.;Burke, Greg L.;Goodarzi, Mark;Cheung, Ching-Lung;Wolf, Myles;Rice, Kenneth;Goltzman, David;Hidiroglou, Nick;Ladouceur, Martin;Wareham, Nicholas J.;Hocking, Lynne J.;Hart, Deborah;Arden, Nigel K.;Cooper, Cyrus;Malik, Suneil;Fraser, William D.;Hartikainen, Anna-Liisa;Zhai, Guangju;Macdonald, Helen M.;Forouhi, Nita G.;Loos, Ruth J. F.;Reid, David M.;Hakim, Alan;Dennison, Elaine;Liu, Yongmei;Power, Chris;Stevens, Helen E.;Jaana, Laitinen;Vasan, Ramachandran S.;Soranzo, Nicole;Bojunga, Joerg;Psaty, Bruce M.;Lorentzon, Mattias;Foroud, Tatiana;Harris, Tamara B.;Hofman, Albert;Jonsson, John-Olov;Cauley, Jane A.;Uitterlinden, Andre G.;Gibson, Quince;Jarvelin, Marjo-Riitta;Karasik, David;Siscovick, David S.;Econs, Michael J.;Kritchevsky, Stephen B.;Florez, Jose C.;Todd, John A.;Dupuis, Josee;Hyppoenen, Elina;Spector, Timothy D.
通讯作者：
Spector, Timothy D.
DOI：
10.1073/pnas.87.14.5474
发表时间：
1990-07-01
影响因子：
11.1
作者：
SANGER, JM;DABIRI, G;SANGER, JW
通讯作者：
SANGER, JW
影响因子：
3.6
作者：
Jones, Kerry S.;Schoenmakers, Inez;Bluck, Les J. C.;Ding, Shujing;Prentice, Ann
通讯作者：
Prentice, Ann
影响因子：
56.9
作者：
Gabriel, SB;Schaffner, SF;Altshuler, D
通讯作者：
Altshuler, D
影响因子：
5.3
作者：
COOKE, NE;WILLARD, HF;GEORGE, DL
通讯作者：
GEORGE, DL