Department of Anatomy, KMCH Institute of Health Sciences and Research (KMCH IHSR), Coimbatore, India.
Department of Orthopaedics, Karpagam Faculty of Medical Sciences and Research (KFMSR), Coimbatore, India.
Clin Anat. 2021 Jan;34(1):51-56. doi: 10.1002/ca.23641. Epub 2020 Jul 21.
Lumbar disc degeneration (LDD) is thought to be multifactorial in origin. Very recently the focus has shifted to the involvement of a family of candidate genes in the pathogenesis of LDD. There is particular emphasis on the vitamin D receptor gene (VDR gene). The VDR polymorphisms FOK1, TAQ1, and APO1 have been variably associated with LDD.
To evaluate the association between the FOK1/Taq1 genes and LDD.
One hundred unrelated healthy (asymptomatic) individuals who presented for routine health checkup and 93 consecutive patients (43 males and 50 females) with no history of low back pain were enrolled in the study after informed consent was obtained. The MRI images of cases and controls were graded and peripheral blood samples were collected from all participants and sent for genetic analysis.
Individuals with the dominant genotype for Taq1 had a significantly higher association with LDD than those without it. There was no association between LDD and the Fok1 genotype.
Genetic predisposition is an important risk factor for LDD.
腰椎间盘退变（LDD）被认为是多因素起源的。最近，人们的注意力已经转移到了候选基因家族在 LDD 发病机制中的作用。维生素 D 受体基因（VDR 基因）尤其受到关注。VDR 多态性 FOK1、TAQ1 和 APO1 与 LDD 有不同程度的关联。
评估 FOK1/Taq1 基因与 LDD 的关系。
在获得知情同意后，选择 100 名无腰痛史的无关健康（无症状）个体（对照组）和 93 例连续腰痛患者（43 名男性和 50 名女性，病例组）进行研究。对病例组和对照组的 MRI 图像进行分级，并采集所有参与者的外周血样进行遗传分析。
Taq1 显性基因型个体与 LDD 的相关性明显高于无 Taq1 基因型个体。Fok1 基因型与 LDD 无关。
遗传易感性是 LDD 的一个重要危险因素。
