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维生素 D 受体和甲状旁腺激素基因多态性在亚洲印第安人阻塞性睡眠呼吸暂停的发生和发展中的作用。

Polymorphisms in vitamin D receptor and parathyroid hormone genes in the development and progression of obstructive sleep apnea in Asian Indians.

机构信息

Department of Pulmonary, Critical Care and Sleep Medicine, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.

Department of Pulmonary, Critical Care and Sleep Medicine, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.

出版信息

Nutrition. 2021 Sep;89:111237. doi: 10.1016/j.nut.2021.111237. Epub 2021 Mar 7.

Abstract

OBJECTIVES

Vitamin D plays a role in multiple aspects of human physiology, and vitamin D receptor (VDR) and parathyroid hormone (PTH) genes are associated with obesity. No data are available, to our knowledge, on the possible relationship between obstructive sleep apnea (OSA) and genetic variations of VDR and PTH genes. This study aimed to assess the significance of vitamin D and PTH, as well as VDR, and PTH gene polymorphisms with body composition and biochemical investigations in Asian Indians with and without OSA.

METHODS

In this study, 120 obese subjects with OSA, 110 obese subjects without OSA, and 70 nonobese subjects without OSA were recruited. Clinical, body composition, anthropometry, and biochemical investigations, as well as a full overnight polysomnography were measured. Genotyping related to VDR (BsmI, ApaI FokI, and TaqI) and PTH (BstBI and DraII) genes were investigated with a quantitative real-time polymerase chain reaction.

RESULTS

The mean values of the lower serum 25(OH) D (12.9 ± 3.8; P = 0.0001) and higher serum PTH levels (61.9 ± 12.5; P = 0.0001) were observed in obese subjects with OSA. There was an indirect correlation between serum 25(OH) D levels and OSA severity (P < 0.001). VDR (BsmI and FokI) and PTH (BstBI and DraII) genes were significantly associated with OSA (P < 0.05). Analyses of VDR haplotype combination variants (BBFFAATt [odds ratio: 3.45; 95% confidence interval, 0.986-4.567] and BbFFAaTt [odds ratio: 2.86; 95% confidence interval, 1.345-4.981) were more frequent in obese subjects with OSA (P = 0.001). The BBDD and bbDd haplotypes of the PTH gene seems to be a predisposing factor for OSA (P < 0.05).

CONCLUSIONS

Lower serum 25(OH) D levels were significantly observed in patients with OSA and correlate with disease severity. Also, VDR and PTH mutations were found to be highly related with OSA in Asian Indians.

摘要

目的

维生素 D 在人体生理的多个方面发挥作用,维生素 D 受体(VDR)和甲状旁腺激素(PTH)基因与肥胖有关。据我们所知,目前尚无关于阻塞性睡眠呼吸暂停(OSA)与 VDR 和 PTH 基因遗传变异之间可能存在的关系的数据。本研究旨在评估维生素 D 和 PTH 以及 VDR 和 PTH 基因多态性与亚洲印度人肥胖和无 OSA 患者的身体成分和生化研究的相关性。

方法

本研究纳入了 120 例 OSA 肥胖患者、110 例非 OSA 肥胖患者和 70 例非 OSA 非肥胖患者。测量了临床、身体成分、人体测量学和生化检查以及整夜多导睡眠图。使用定量实时聚合酶链反应检测 VDR(BsmI、ApaI FokI 和 TaqI)和 PTH(BstBI 和 DraII)基因的相关基因多态性。

结果

OSA 肥胖患者的血清 25(OH)D 平均值较低(12.9 ± 3.8;P = 0.0001),血清 PTH 水平较高(61.9 ± 12.5;P = 0.0001)。血清 25(OH)D 水平与 OSA 严重程度呈间接相关性(P < 0.001)。VDR(BsmI 和 FokI)和 PTH(BstBI 和 DraII)基因与 OSA 显著相关(P < 0.05)。VDR 单倍型组合变异(BBFFAATt[比值比:3.45;95%置信区间,0.986-4.567]和 BbFFAaTt[比值比:2.86;95%置信区间,1.345-4.981)在 OSA 肥胖患者中更为常见(P = 0.001)。PTH 基因的 BBDD 和 bbDd 单倍型似乎是 OSA 的易感因素(P < 0.05)。

结论

OSA 患者的血清 25(OH)D 水平明显较低,且与疾病严重程度相关。此外,在亚洲印度人中,VDR 和 PTH 突变与 OSA 高度相关。

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