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MTHFR 基因遗传变异与波兰炎症性肠病患者叶酸水平和骨密度的关系。

Genetic variants of MTHFR gene in relation to folic acid levels and bone mineral density in Polish patients with inflammatory bowel disease.

机构信息

Department of Gastroenterology, Dietetics and Internal Diseases, Poznan University of Medical Sciences, Przybyszewskiego 49, 60-355, Poznan, Poland.

Doctoral School, Poznan University of Medical Sciences, Bukowska 70, 60-812, Poznan, Poland.

出版信息

J Appl Genet. 2024 Feb;65(1):73-81. doi: 10.1007/s13353-023-00792-6. Epub 2023 Oct 11.

DOI:10.1007/s13353-023-00792-6
PMID:37816983
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10789830/
Abstract

Lower bone mineral density (BMD) constitutes a common issue in inflammatory bowel disease (IBD). Studies often explore the association between BMD and folic acid level. The presented study aimed to evaluate the impact of MTHFR gene polymorphism and folic acid levels on BMD in patients with IBDs: Crohn's disease (CD) and ulcerative colitis (UC). The study group comprised IBD patients and a healthy control group. BMD, T-score, and Z-score of the lumbar spine (L1-L4) and femoral neck (FN) were assessed using dual-energy X-ray absorptiometry. Folic acid level was determined using direct chemiluminescence, and the MTHFR 677C > T (rs1801133) and 1298A > C (rs1801131) genotyping were performed by HRMA. Our study found no significant differences in the folic acid levels between the groups. Patients with CD and UC presented a lower BMD, T-score, and Z-score of the FN and L1-L4 than the CG. UC patients who were homozygotes AA in loci c.1298A>C presented lower than controls lumbar spine L1-L4 BMD and T-score values. Regarding MTHFR 677 polymorphism, we found that IBD patients carrying CC genotype demonstrated lower than controls femoral neck Z-score, lumbar spine L1-L4 BMD, T-score and Z-score. MTHFR polymorphisms were found to have no impact on folic acid concentrations. IBD patients presented a higher risk of low BMD than the healthy controls, regardless of MTHFR 677 and 1298 genotypes. However, MTHFR polymorphism may influence on bone in IBD patients. Nevertheless, it appears essential to conduct further studies.

摘要

骨密度(BMD)降低是炎症性肠病(IBD)的常见问题。研究通常探讨 BMD 与叶酸水平之间的关系。本研究旨在评估 MTHFR 基因多态性和叶酸水平对 IBD 患者(克罗恩病(CD)和溃疡性结肠炎(UC))BMD 的影响。研究组包括 IBD 患者和健康对照组。使用双能 X 射线吸收法评估腰椎(L1-L4)和股骨颈(FN)的 BMD、T 评分和 Z 评分。使用直接化学发光法测定叶酸水平,通过 HRMA 进行 MTHFR 677C> T(rs1801133)和 1298A> C(rs1801131)基因分型。我们的研究发现组间叶酸水平无显著差异。CD 和 UC 患者的 FN 和 L1-L4 的 BMD、T 评分和 Z 评分均低于 CG。在 c.1298A>C 位点纯合 AA 的 UC 患者的腰椎 L1-L4 BMD 和 T 评分值低于对照组。关于 MTHFR 677 多态性,我们发现携带 CC 基因型的 IBD 患者的股骨颈 Z 评分、腰椎 L1-L4 BMD、T 评分和 Z 评分均低于对照组。MTHFR 多态性对叶酸浓度没有影响。与健康对照组相比,IBD 患者的低 BMD 风险更高,无论 MTHFR 677 和 1298 基因型如何。然而,MTHFR 多态性可能会影响 IBD 患者的骨骼。尽管如此,似乎有必要进行进一步的研究。