Haddadi Kaveh, Sahebi Mohammad, Mahrooz Abdolkarim, ShayestehAzar Masoud, Hashemi-Soteh Mohammad Bagher
Department of Neurosurgery, Orthopedic Research Center, Mazandaran University of Medical Sciences, Sari, Iran.
Student Research Committee, Mazandaran University of Medical Sciences, Sari, Iran.
Caspian J Intern Med. 2022 Spring;13(2):418-424. doi: 10.22088/cjim.13.2.418.
Low back pain is one of the most common causes of referral to physicians. Lumbar disc degeneration (LDD) is the main cause of back pain in different countries. It seems that genetic factors are more effective than environmental factors in the developing of degenerative phenomena. The aim of this investigation, therefore, was to study the association of the aggrecan gene () variable number tandem repeat (VNTR) and the vitamin D receptor (VDR) rs731236 () polymorphisms, with lumbar intervertebral disc degeneration in a population in the North of Iran.
In this study, 55 patients with symptomatic intervertebral disk degeneration and 55 control subjects were included. VDR gene polymorphism was genotyped by PCR-based RFLP. The isolated DNA was used to genotype the VNTR of ACAN gene via conventional PCR.
For VDR gene polymorphism, the CC genotype (OR=5.337, P=0.019) was significantly higher among the patients compared with the controls, revealing a higher frequency of the C allele in patients compared with controls (OR=2.707, P=0.005). The lower number of frequent repetitions in the VNTR aggrecan gene was associated with a six-time increase of lumbar disc degeneration. Also, high BMI can be considered as an independent factor in the incidence of this disease.
Aggrecan gene VNTR polymorphism had an association with degeneration of lumbar intervertebral discs that the shorter VNTR repeats increasing the chance of the disc degeneration in this population in the North of Iran. Moreover, an association between the mutant allele (C) of VDR gene polymorphism and disc degeneration is found.
下腰痛是患者转诊至医生处的最常见原因之一。腰椎间盘退变（LDD）是不同国家背痛的主要原因。在退行性病变的发生过程中，遗传因素似乎比环境因素更具影响力。因此，本研究的目的是探讨伊朗北部人群中聚集蛋白聚糖基因（）可变数目串联重复序列（VNTR）和维生素D受体（VDR）rs731236（）多态性与腰椎间盘退变之间的关联。
本研究纳入了55例有症状的椎间盘退变患者和55例对照受试者。通过基于PCR的限制性片段长度多态性分析对VDR基因多态性进行基因分型。分离的DNA用于通过常规PCR对ACAN基因的VNTR进行基因分型。
对于VDR基因多态性，患者中的CC基因型（OR = 5.337，P = 0.019）显著高于对照组，表明患者中C等位基因的频率高于对照组（OR = 2.707，P = 0.005）。聚集蛋白聚糖基因VNTR中重复次数较少与腰椎间盘退变增加6倍相关。此外，高体重指数可被视为该疾病发病的独立因素。
聚集蛋白聚糖基因VNTR多态性与腰椎间盘退变有关，在伊朗北部人群中，较短的VNTR重复序列增加了椎间盘退变的几率。此外，还发现了VDR基因多态性的突变等位基因（C）与椎间盘退变之间的关联。
