Matana Antonela, Popović Marijana, Torlak Vesela, Punda Ante, Barbalić Maja, Zemunik Tatijana
Department of Medical Biology, University of Split, School of Medicine Department of Nuclear Medicine, University Hospital Split, Split, Croatia.
Medicine (Baltimore). 2018 May;97(21):e10834. doi: 10.1097/MD.0000000000010834.
Parathyroid hormone (PTH) is one of the principal regulators of calcium homeostasis, crucial for normal functioning of the kidneys, bones, heart, and nervous system. Different pathologic conditions can affect serum PTH level resulting in hyperparathyroidism or hypoparathyroidism. Our study assessed the association of previously reported polymorphisms with the level of PTH (expressed in pg/mL) among individuals with different pathologic conditions affecting PTH level.
We searched Web of Science, MEDLINE, and Scopus to identify relevant articles published up to July 2017. The search yielded 6967 publications of which 44 fulfilled the inclusion criteria. We conducted meta-analyses for calcium-sensing receptor gene (CaSR) rs1801725 polymorphism in patients with primary hyperparathyroidism and vitamin D receptor gene (VDR) rs1544410 polymorphism in patients with end-stage renal disease (ESRD).
None of the polymorphisms were significantly associated with PTH levels in the overall population. In subgroup analysis by ethnicity for VDR rs1544410 gene polymorphism, we found significant differences under dominant model (SMD: -0.18 [-0.32, -0.05], P < .01) and AA versus GG comparison (SMD: -0.29 [-0.52, -0.06], P < .01) in Asian patients with ESRD, while nominally significant results (P < .05) were observed for AG versus GG and AA versus GG comparisons in European individuals with ESRD.
Scientific evidence of genetic association of serum PTH level among individuals with different pathologic conditions remains deficient and published results provide weak evidence. Further well-conducted studies on larger sample sets designed according to evidence-based principles are warranted to assure clinically applicable findings.
甲状旁腺激素（PTH）是钙稳态的主要调节因子之一，对肾脏、骨骼、心脏和神经系统的正常功能至关重要。不同的病理状况可影响血清PTH水平，导致甲状旁腺功能亢进或减退。我们的研究评估了先前报道的多态性与影响PTH水平的不同病理状况个体中PTH水平（以pg/mL表示）之间的关联。
我们检索了科学网、医学期刊数据库和Scopus，以识别截至2017年7月发表的相关文章。检索得到6967篇出版物，其中44篇符合纳入标准。我们对原发性甲状旁腺功能亢进患者的钙敏感受体基因（CaSR）rs1801725多态性和终末期肾病（ESRD）患者的维生素D受体基因（VDR）rs1544410多态性进行了荟萃分析。
在总体人群中，这些多态性均与PTH水平无显著关联。在按种族对VDR rs1544410基因多态性进行的亚组分析中，我们发现，在亚洲ESRD患者的显性模型下（标准化均数差：-0.18 [-0.32, -0.05]，P<0.01）以及AA与GG比较时（标准化均数差：-0.29 [-0.52, -0.06]，P<0.01）存在显著差异，而在欧洲ESRD个体中，AG与GG以及AA与GG比较时观察到名义上显著的结果（P<0.05）。
不同病理状况个体中血清PTH水平遗传关联的科学证据仍然不足，已发表的结果提供的证据薄弱。有必要根据循证原则设计更大样本量的进一步高质量研究，以确保获得临床适用的结果。
