类风湿关节炎患者的一些遗传差异。

Some genetic differences in patients with rheumatoid arthritis.

机构信息

Biotechnology and Life Sciences Department, Faculty of Post Graduate Studies for Advanced Sciences, Beni-Suef University, Beni-Suef, 61511, Egypt.

Internal Medicine and Biomedical Chemistry Departments, Egypt Ministry of Health and Population, Minia, Egypt.

出版信息

BMC Res Notes. 2023 Oct 17;16(1):274. doi: 10.1186/s13104-023-06559-w.

DOI:10.1186/s13104-023-06559-w

PMID:37849009

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10580500/

Abstract

OBJECTIVE

Vitamin D is important for bone and cartilage metabolism. Changes in vitamin D blood level may be related to pathological disorders such as rheumatoid arthritis (RA). The main aim of this study is to investigate the association between RA and the vitamin D receptor (VDR) genes FokI and TaqI polymorphisms. One hundred RA patients and fifty healthy matched controls were assessed for VDR FokI and TaqI genotyping. Intact parathyroid hormone (PTH) and calcium (Ca) levels were measured, categorized, and compared between the cases and control groups.

RESULTS

We found that the FokI genotype frequencies for the RA cases and control groups were FF:Ff:ff = 46%:52%:2% and 50%:50%:0%, respectively (P = 0.76). The TaqI genotype frequencies for the RA cases and control groups were TT:Tt:tt = 45%:44%:11% and 42%:42%:16%, respectively (P = 0.69). A statistically significant high serum PTH level was associated with the ff genotype (p = 0.03), and a significantly low serum Ca level was associated with the TT genotype (p = 0.003). In comparison with controls, no influence of VDR FokI and TaqI genotypes on RA susceptibility or risk was demonstrated.

摘要

目的

维生素 D 对骨骼和软骨代谢很重要。维生素 D 血液水平的变化可能与类风湿关节炎（RA）等病理紊乱有关。本研究的主要目的是探讨 RA 与维生素 D 受体（VDR）基因 FokI 和 TaqI 多态性之间的关系。评估了 100 名 RA 患者和 50 名健康匹配对照者的 VDR FokI 和 TaqI 基因分型。测量、分类并比较了病例组和对照组的完整甲状旁腺激素（PTH）和钙（Ca）水平。

结果

我们发现，RA 病例组和对照组的 FokI 基因型频率分别为 FF:Ff:ff=46%:52%:2%和 50%:50%:0%（P=0.76）。RA 病例组和对照组的 TaqI 基因型频率分别为 TT:Tt:tt=45%:44%:11%和 42%:42%:16%（P=0.69）。血清 PTH 水平显著升高与 ff 基因型相关（p=0.03），血清 Ca 水平显著降低与 TT 基因型相关（p=0.003）。与对照组相比，VDR FokI 和 TaqI 基因型对 RA 易感性或风险没有影响。