Nasreen Maimoona, Lone Khalid Pervaiz, Khaliq Saba, Khaliq Shagufta
Department of Physiology & Cell Biology, University of Health Sciences, Lahore.
Department of Human Genetics, University of Health Sciences, Lahore, Pakistan.
J Pak Med Assoc. 2016 Oct;66(10):1215-1220.
To compare the pattern of Vitamin D receptor (VDR) polymorphisms (Apa I and Fok I) in Type I Diabetes mellitus (T1DM) as cases vs healthy population as control and to investigate the association of VDR polymorphism with vitamin D levels in cases and controls.
The hypothesis of the study was "VDR gene polymorphisms (Fok 1 and Apa 1) and vitamin D levels are associated with the T1DM". The case-control study was carried out on 44 cases and 44 controls. Clinically diagnosed unrelated cases were recruited from the Diabetic Clinic of Jinnah Hospital, Lahore during Aug. 2012 to Jan 2013. Unrelated controls with normal glucose levels and no first-degree family history of T1DM were selected by convenient sampling. Vitamin D levels of both cases and controls were measured using Enzyme Linked Immunosorbant Assay (ELISA). Genotyping was performed by Restriction Fragment Length Polymorphism (RFLP)-PCR method and the data were analyzed statistically with IBM-SPSS 21.
Our results demonstrated suboptimal vitamin D levels in whole of our sample population, whether control or cases (p = 0.529). There was no statistically significant difference in 25-Hydroxyvitamin D3 levels between cases (11.351 ± 5.92) and controls (12.335 ± 6.64). VDR polymorphism was not associated with susceptibility to T1DM in our sample population. Similarly, no association between VDR polymorphism and vitamin D levels was observed i.e. FokI p=0.507 and p=0.543 and ApaI p=0.986 and p=0.307 for cases and controls respectively.
There is an overall deficiency of Vitamin D levels in cases and control subjects while SNPs association studies suggested that in our sample population there was no association of VDR gene polymorphisms Fok I and Apa I with TIDM.
比较1型糖尿病（T1DM）患者与健康人群维生素D受体（VDR）基因多态性（Apa I和Fok I）的模式，并研究病例组和对照组中VDR基因多态性与维生素D水平的关联。
本研究的假设为“VDR基因多态性（Fok 1和Apa 1）及维生素D水平与T1DM相关”。采用病例对照研究，纳入44例病例和44例对照。2012年8月至2013年1月期间，从拉合尔真纳医院糖尿病门诊招募临床诊断为不相关的病例。通过方便抽样选择血糖水平正常且无T1DM一级家族史的不相关对照。采用酶联免疫吸附测定（ELISA）法检测病例组和对照组的维生素D水平。采用限制性片段长度多态性（RFLP）-PCR方法进行基因分型，并使用IBM-SPSS 21软件对数据进行统计学分析。
我们的结果表明，无论是对照组还是病例组，整个样本群体的维生素D水平均未达到最佳状态（p = 0.529）。病例组（11.351 ± 5.92）和对照组（12.335 ± 6.64）的25-羟基维生素D3水平无统计学显著差异。在我们的样本群体中，VDR基因多态性与T1DM易感性无关。同样，未观察到VDR基因多态性与维生素D水平之间的关联，即病例组和对照组的FokI分别为p=0.507和p=0.543，ApaI分别为p=0.986和p=0.307。
病例组和对照组总体上均存在维生素D水平缺乏的情况，而单核苷酸多态性关联研究表明，在我们的样本群体中，VDR基因多态性Fok I和Apa I与TIDM无关联。
