性早熟女童维生素D受体基因多态性的研究进展-国际临床研究杂志-科技核心数据库

相关机构

性早熟女童维生素D受体基因多态性的研究进展

Research progress of vitamin D receptor gene polymorphism in precocious girls

被引量： ES评分0 浏览量：354

全文阅读下载引用收藏

DOI	10.12208/j.ijcr.20230062
刊名	国际临床研究杂志 International Journal of Clinical Research
年，卷(期)	2023, 7(2)
作者	张慧敏,王爱萍*,
作者单位	昆明市第一人民医院儿童生长发育管理中心云南昆明 ;
摘要	性早熟是儿童常见的性发育异常疾病，可分为中枢性性早熟、外周性性早熟及不完全性性早熟。其中中枢性性早熟是最常见的，是由于下丘脑-垂体-性腺轴过早启动，下丘脑提前分泌和释放促性腺激素的释放激素，激活腺垂体分泌促性腺激素，使性腺增大和活动增强，从而青春期提前启动的疾病。目前性早熟的发病机制，特别是中枢性性早熟仍不明确，可能与基因及环境因素相关。维生素D受体在人体细胞中广泛表达，其基因的多态性也被证实与多种疾病相关，其中性早熟与VDR基因多态性的关系也逐渐受到越来越多的关注。现就性早熟女童维生素D受体基因多态性研究进展进行综述。 Precocious puberty is a common sexual development disorder in children, which can be divided into central precocious puberty, peripheral precocious puberty and incomplete precocious puberty. Among them, central precocious puberty is the most common, which is due to the premature initiation of the hypothalamic-pituitary-gonadal axis, the hypothalamus secretes and releases the releasing hormone of gonadotropin in advance, activates the adenohypophysis to secrete gonadotropin, and makes the gonadotropin enlarged and the activity enhanced, thus the early initiation of puberty. At present, the pathogenesis of precocious puberty, especially central precocious puberty, is still unclear, which may be related to genetic and environmental factors. Vitamin D receptor is widely expressed in human cells, and its gene polymorphism has been proved to be associated with a variety of diseases, among which the relationship between precocious puberty and VDR gene polymorphism has gradually attracted more and more attention. This article summarizes the research progress of vitamin D receptor gene polymorphism in girls with precocious puberty, among which central precocious puberty is the most common disease. Due to the premature initiation of hypothalamic- pituitary-gonadal axis, the hypothalamus secretes and releases gonadotropin releasing hormone in advance, activates the adenohypophysis to secrete gonadotropin, which increases the gonadotropin and enhances the activity of the gonadotropin, and thus the early initiation of puberty. At present, the pathogenesis of precocious puberty, especially central precocious puberty, is still unclear, which may be related to genetic and environmental factors. Vitamin D receptor is widely expressed in human cells, and its gene polymorphism has been proved to be associated with a variety of diseases, among which the relationship between precocious puberty and VDR gene polymorphism has gradually attracted more and more attention. This article reviews the research progress of vitamin D receptor gene polymorphism in girls with precocious puberty.
关键词	性早熟；维生素D受体；基因多态性 Precocious puberty; vitamin D receptor; Gene polymorphism
基金项目
页码	39-43

参考文献
相关文献

[1] Sakunthala Sahithi Tirumuru,Pratibha Arya, PallaviLatthe, Jeremy Kirk. Understanding precocious puberty in girls
[J]. The Obstetrician & Gynaecologist,2012,14(2).

[2] 柯江维,段荣.性早熟和性早熟危险因素研究进展
[J].实验与检验学,2012,30(03):243-247.

[3] 冯程钦, 曾平, 罗钧,等. 维生素D受体基因多态性与骨关节炎关系的Meta分析
[J]. 中国组织工程研究, 2020, 24(33):8.&

[4] Alfaqih MA, Araidah A, Amarin Z, et al. Association of vitamin D levels and polymorphisms in vitamin D receptor with type 2 diabetes mellitus
[J]. Biomed Rep. 2022;18(1):3.

[5] Francis, IssamAlAbdali, NooraKapila,et al. Vitamin D pathway related polymorphisms and vitamin D receptor expression in breast cancer
[J]. International Journal for Vitamin and Nutrition Research: Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung, 2021, 91(1a2).

[6] Mahyar Abolfazl, Ayazi Parviz, Sarkhosh Afshar Arshnoos, et al. Vitamin D receptor gene (FokI, TaqI, BsmI, and ApaI) polymorphisms in children with urinary tract infection.
[J]. Pediatric research,2018,84(4)

[7] 蒋亦冠.维生素D受体基因多态性与儿童单纯性肥胖的相关性分析
[J].中国妇幼保健,2021,36(07):1646-1648.

[8] 秦欣, 李爱民. 维生素D及其受体在儿童哮喘发病机制的研究进展
[J]. 山东医药, 2020, 60(13):4.&&

[9] Jose M. Valdivielso, Elvira Fernandez. Vitamin D receptor polymorphisms and diseases
[J]. Clinica Chimica Acta, 2006, 371(1).

[10] Bikle D D . Vitamin D Metabolism, Mechanism of Action, and Clinical Applications
[J]. Chemistry & biology, 2014, 21(3):319-329.

[11] Christakos Sylvia,Dhawan Puneet,Verstuyf Annemieke,et al. Vitamin D: Metabolism, Molecular Mechanism of Action, and Pleiotropic Effects.
[J]. Physiological reviews, 2016, 96(1).

[12] Yongji Wang, Jinge Zhu, Hector F. DeLuca. Where is the vitamin D receptor?
[J]. Archives of Biochemistry and Biophysics,2012,523(1).

[13] Baker A R, McDonnell D P, Hughes M, et al. Cloning and expression of full-length cDNA encoding human vitamin D receptor.
[J]. Proceedings of the National Academy of Sciences of the United States of America,1988,85(10).

[14] Miyamoto K, Kesterson R A, Yamamoto H, et al. Structural organization of the human vitamin D receptor chromosomal gene and its promoter.
[J]. Molecular endocrinology (Baltimore, Md.),1997,11(8).

[15] Protas, V, Pogossyan, G, Li, K, et al. Vitamin D receptor gene polymorphisms characteristic Bul. Kar. Univ. “BioMedGeo” Ser. 2021; 104 (4): 60-70

[16] 潘小红, 杨春燕, 王小红,等. 多囊卵巢综合征与血清维生素D和维生素D受体基因多态性的关系研究
[J]. 临床和实验医学杂志, 2019, 18(15):5

[17] Zmuda J M, Cauley J A, Ferrell R E. Molecular epidemiology of vitamin D receptor gene variants.
[J]. Epidemiologic reviews,2000,22(2).&

[18] AndréG. Uitterlinden, Yue Fang, Joyce B.J. van Meurs, et al. Genetics and biology of vitamin D receptor polymorphisms
[J]. Gene,2004,338(2).

[19] Hadi S M , Al-Zubaidy R . Genotyping of Vitamin D Receptor FOKI Polymorphismas a predictor for Type 2 diabetes Mellitus by a Tetra primer-ARMS-PCR Assay
[J]. Gene Reports, 2019, 15

[20] KulsoomUme, Khan Amber, Saghir Tahir, etal. Vitamin D Receptor Gene Polymorphism TaqI (rs731236) and its Association with the Susceptibility to Coronary Artery Disease among Pakistani Population.
[J]. The journal of gene medicine,2021,23(12).

[21] Ye W Z, Reis A F, Velho G. Identification of a novel Tru9 I polymorphism in the human vitamin D receptor gene.
[J]. Journal of human genetics,2000,45(1).

[22] Arai H, Miyamoto K I, Yoshida M, et al. The polymorphism in the caudal-related homeodomain protein Cdx-2 binding element in the human vitamin D receptor gene.
[J]. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2001, 16(7).

[23] 杨润娇,李磊,郭晖.维生素D与性腺关系的研究进展
[J].中国全科医学,2017,20(08):1015-1018.

[24] Cary, L, Dicken, et al. Peripubertal vitamin D(3) deficiency delays puberty and disrupts the estrous cycle in adult female mice.
[J]. Biology of Reproduction, 2012.

[25] 陈霞, 商宇伟, 王林晓,等. 维生素D缺乏模型小鼠子宫转录组的测序分析
[J]. 中国组织工程研究, 2022, 26(26):6.

[26] 万彦伶,郝翠芳.维生素D与女性生殖激素及妊娠结局关系的研究进展
[J].生殖医学杂志,2018,27(12):1255-1259.

[27] Villamor Eduardo, Marin Constanza, Mora-Plazas Mercedes, Baylin Ana. Vitamin D deficiency and age at menarche: a prospective study.
[J]. The American journal of clinical nutrition,2011,94(4).

[28] Hua A. Vitamin D Status and Age of Menarche: NHANES 2001-2010 Analysis of Adolescent and Early Adult Females in the United States. 2016.

[29] Al-Taiar, A, Al-Sabah, R, Shaban, L, et al. Is age of menarche directly related to vitamin D levels? AM J HUM BIOL. 2022; 34 (6): e23731.&

[30] Lee HS, Kim YJ, Shim YS, et al. Associations between serum vitamin D levels and precocious puberty in girls
[J]. Annals of Pediatric Endocrinology & Metabolism, 2014, 19(2).

[31] Chew Anna, Harris Susan S. Does vitamin D affect timing of menarche?
[J]. Nutrition reviews,2013,71(3).

[32] Johnson Abby L, Zinser Glendon M, Waltz Susan E. Loss of vitamin D receptor signaling from the mammary epithelium or adipose tissue alters pubertal glandular development.
[J].American journal of physiology. Endocrinology and metabolism,2014,307(8).

[33] Kitagawa I,Kitagawa Y, Kawase Y, et al. Advanced onset of menarche and higher bone mineral density depending on vitamin D receptor gene polymorphism.
[J]. European journal of endocrinology,1998,139(5).

[34] Santos B R, Mascarenhas L P G, Satler F, Boguszewski M C S, Spritzer P M. Vitamin D receptor gene polymorphisms and sex steroid secretion in girls with precocious pubarche in Southern Brazil: a pilot study.
[J]. Journal of endocrinological investigation,2012,35(8).

[35] 钟龙青. 维生素D水平以及其受体基因多态性与女童性早熟关系的研究
[J].实验与检验医学,2019.

[36] Li, Y, Zhang, H, Li, Q, et al. Association of the KISS1, LIN28B, VDR and ERαgene polymorphisms with early and fast puberty in Chinese girls. GYNECOL Endocrinol. 2023; 2181653.&

[37] Li, Y, Tao, N, Chen, M, et al. Gene Polymorphisms Associated with Central Precocious Puberty and Hormone Levels in Chinese Girls. INT J ENDOCRINOL. 2022; 2022 9450663.&

相关学者

相关机构