文献检索文档翻译深度研究
Suppr Zotero 插件Zotero 插件
邀请有礼套餐&价格历史记录

新学期,新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

了解详情
不再提醒
插件&应用
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
高级版
套餐订阅购买积分包
AI 工具
文献检索文档翻译深度研究
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2025

生长激素缺乏症患者的维生素D状态与维生素D受体基因多态性:突尼斯一项病例对照研究。

Vitamin D status and VDR gene polymorphisms in patients with growth hormone deficiency: A case control Tunisian study.

作者信息

Tombari Sarra, Amri Yessine, Hasni Yosra, Hadj Fredj Sondess, Salem Yesmine, Ferchichi Salima, Essaddam Leila, Messaoud Taieb, Dabboubi Rym

机构信息

Biochemistry Laboratory (LR00SP03), Bechir Hamza Children's Hospital, Tunis, Tunisia.

University of Jendouba, Higher Institute of Applied Studies in Humanity Le Kef, Department of Educational Sciences, Kef, Tunisia.

出版信息

Heliyon. 2024 Jul 20;10(14):e34947. doi: 10.1016/j.heliyon.2024.e34947. eCollection 2024 Jul 30.


DOI:10.1016/j.heliyon.2024.e34947
PMID:39149044
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11325357/
Abstract

INTRODUCTION: Growth Hormone Deficiency (GHD) is a rare disease marked by a complete or partial reduction in the production of growth hormone. Vitamin D deficiency is frequent and may be associated with several pathologies. However, the association between GHD and vitamin D deficiency has not been extensively studied. This study aimed to analyse VDR gene polymorphisms related to vitamin D status to ensure better care for patients with GHD. MATERIAL AND METHODS: A case-control study was conducted at the Children's Hospital of Tunis in collaboration with the Farhat Hached's Hospital of Sousse, including patients with GHD and healthy subjects. Genetic analysis of the VDR gene polymorphisms was performed using PCR-RFLP technique. Haplotypes were examined with Haploview software, while statistical analyses were carried out using SPSS and R programming language. RESULTS: Our study revealed significant differences in vitamin D (p = 0, 049) and calcium concentrations between patients and healthy subjects, which were lower in the GHD group (p = 0,018). A comparison of allelic and genotypic frequencies of the five polymorphisms indicated an association between the I polymorphism and GHD. Furthermore, significant difference was observed between the I genotypes and PTH (p = 0,019) and ALP (p = 0,035). I genotypes were associated with phosphorus (p = 0,021). Additionally, One haplotype, CTAGT, exhibited a significant difference between the patients and healthy subjects (p = 0,002). CONCLUSION: Our study findings indicate that hypovitaminosis D is common among patients with GHD, even when undergoing treatment with rhGH. This underscores the critical importance of vitamin D supplementation during treatment.

摘要

引言:生长激素缺乏症(GHD)是一种罕见疾病,其特征是生长激素分泌完全或部分减少。维生素D缺乏症很常见,可能与多种疾病相关。然而,GHD与维生素D缺乏之间的关联尚未得到广泛研究。本研究旨在分析与维生素D状态相关的维生素D受体(VDR)基因多态性,以确保更好地治疗GHD患者。 材料与方法:在突尼斯儿童医院与苏塞的法哈特·哈谢德医院合作开展了一项病例对照研究,纳入了GHD患者和健康受试者。使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术对VDR基因多态性进行基因分析。使用Haploview软件检查单倍型,同时使用SPSS和R编程语言进行统计分析。 结果:我们的研究显示,患者与健康受试者之间的维生素D(p = 0.049)和钙浓度存在显著差异,GHD组较低(p = 0.018)。对五种多态性的等位基因和基因型频率进行比较,结果表明I多态性与GHD之间存在关联。此外,I基因型与甲状旁腺激素(PTH,p = 0.019)和碱性磷酸酶(ALP,p = 0.035)之间存在显著差异。I基因型与磷(p = 0.021)相关。此外,一种单倍型CTAGT在患者与健康受试者之间存在显著差异(p = 0.002)。 结论:我们的研究结果表明,即使接受重组人生长激素(rhGH)治疗,维生素D缺乏症在GHD患者中也很常见。这凸显了治疗期间补充维生素D的至关重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c199/11325357/19eab88f6efc/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c199/11325357/de0e85d4a239/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c199/11325357/773dcad0a951/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c199/11325357/ea04760f0e4e/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c199/11325357/dc52b0967f5b/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c199/11325357/08ebd5a35751/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c199/11325357/19eab88f6efc/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c199/11325357/de0e85d4a239/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c199/11325357/773dcad0a951/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c199/11325357/ea04760f0e4e/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c199/11325357/dc52b0967f5b/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c199/11325357/08ebd5a35751/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c199/11325357/19eab88f6efc/gr6.jpg

相似文献

[1]
Vitamin D status and VDR gene polymorphisms in patients with growth hormone deficiency: A case control Tunisian study.

Heliyon. 2024-7-20

[2]
Vitamin D Receptor Polymorphisms Associated with Autism Spectrum Disorder.

Autism Res. 2020-5

[3]
Vitamin D deficiency and the vitamin D receptor (VDR) gene polymorphism rs2228570 (FokI) are associated with an increased susceptibility to hypertension among the Bangladeshi population.

PLoS One. 2024

[4]
Association of polymorphisms in the vitamin D receptor gene and serum 25-hydroxyvitamin D levels in children with autism spectrum disorder.

Gene. 2016-8-22

[5]
Relationship between vitamin D receptor gene FokI and ApaI polymorphisms and serum levels of fetuin-A, vitamin D, and parathyroid hormone in patients on hemodialysis.

Iran J Kidney Dis. 2014-9

[6]
Vitamin D status, vitamin D receptor gene polymorphism, and haplotype in patients with cutaneous leishmaniasis: Correlation with susceptibility and parasite load index.

PLoS Negl Trop Dis. 2023-6

[7]
Frequency of Vitamin D Receptor Gene Polymorphisms in a Population with a very High Prevalence of Vitamin D Deficiency, Obesity, Diabetes and Hypertension.

Biomedicines. 2023-4-18

[8]
Association of vitamin D receptor gene polymorphisms with susceptibility to asthma in Tunisian children: A case control study.

Hum Immunol. 2012-11-29

[9]
Association of genetic polymorphisms in vitamin D receptor (, and ) with vitamin D and glycemic status in type 2 diabetes patients from Southern India.

Drug Metab Pers Ther. 2021-3-17

[10]
Association of vitamin D receptor FokI and ApaI polymorphisms with lung cancer risk in Tunisian population.

Mol Biol Rep. 2014-10

引用本文的文献

[1]
Importance of selected genetic determinants on endurance performance and physical strength: a narrative review.

Front Physiol. 2025-6-26

本文引用的文献

[1]
Resolution of Secondary Hyperparathyroidism After Kidney Transplantation and the Effect on Graft Survival.

Ann Surg. 2023-9-1

[2]
Vitamin D Metabolism Gene Polymorphisms and Their Associated Disorders: A Literature Review.

Curr Drug Metab. 2022

[3]
Vitamin D and Parathyroid Hormone during Growth Hormone Treatment.

Children (Basel). 2022-5-15

[4]
Vitamin D in healthy Tunisian population: Preliminary results.

J Med Biochem. 2022-4-8

[5]
Association of Vitamin D Deficiency and Vitamin D Receptor Genetic Variants With Coronary Artery Disease in Type 2 Diabetic Saudi Patients.

In Vivo. 2022

[6]
Long-term effectiveness of growth hormone therapy in children born small for gestational age: An analysis of LG growth study data.

PLoS One. 2022

[7]
Osteoporosis and its Association with Vitamin D Receptor, Oestrogen α Receptor, Parathyroid Receptor and Collagen Type I alpha Receptor Gene Polymorphisms with Bone Mineral Density: A Pilot Study from South Indian Postmenopausal Women of Tamil Nadu.

Biochem Genet. 2022-12

[8]
Vitamin D Receptor () Gene Polymorphisms Modify the Response to Vitamin D Supplementation: A Systematic Review and Meta-Analysis.

Nutrients. 2022-1-15

[9]
Advances in differential diagnosis and management of growth hormone deficiency in children.

Nat Rev Endocrinol. 2021-10

[10]
Association of Vitamin D Receptor Gene Polymorphisms with Serum Vitamin D Levels in a Greek Rural Population (Velestino Study).

Lifestyle Genom. 2021

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

推荐工具

医学文档翻译智能文献检索