Case-control study of vitamin D receptor gene polymorphism in Pakistani rheumatoid arthritis patients

John, Peter; Bhatti, Attya; Ain, Noor ul; Iqbal, Tahir; Sadaf, Tayyaba; Malik, Javed Mehmood

doi:10.1016/j.rbre.2015.07.003

Cited by 2 publications

(3 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The reason may be the single-nucleotide polymorphisms (SNPs) of VDR, which prevents effective uptake of synthesized vitamin D from serum to the cells. However, contrasting evidence has been found, opposing the perception that VDR mutation somehow reduces vitamin D absorption by the cells, and leads to a myriad of diseases, associated with VDD (John et al , 2017; Junaid et al , 2016). Further investigation, in terms of analyzing other SNPs of VDR, and conducting larger scale analyses, may be able to give us some direction as to why VDD is so prevalent in a country with ample sunshine.…”

Section: Discussionmentioning

confidence: 96%

“…Awareness regarding the causes and prevention of VDD is an avenue that should be explored by the public health offices, which should begin by conducting conclusive studies to determine the public knowledge regarding this issue (Clark et al , 2018). Another emerging concept is the role of SNPs that may affect biosynthesis and physiology of vitamin D. In this regard, two small-scale studies were conducted (John et al , 2017; Junaid et al , 2016), which were not quite conclusive. So, this is another avenue that can be explored, which may help us determine the root cause for such low levels of vitamin D among the Pakistani population.…”

Section: Future Prospectsmentioning

confidence: 99%

See 1 more Smart Citation

Vitamin D deficiency in Pakistani population: critical overview from 2008 to 2018

Syed

Latif

Ahmed

et al. 2019

NFS

View full text Add to dashboard Cite

Purpose The purpose of this paper is to access the present situation of the Pakistani population that suffers from vitamin D deficiency. Design/methodology/approach A review-based study was conducted based on publications from Pakistan between the years 2008 and 2018. The publications were archived from Pub Med and Google Scholar databases. A total of 18 publications were shortlisted, based on the cutoff values of vitamin D sufficiency, insufficiency and deficiency. Findings As per the data, 38.5 per cent of the participants were males, 48.7 per cent were females and 12.8 per cent of the studies have not mentioned the genders of the participants. The cumulative results show that 58.17 per cent (95 per cent CI: 52.17, 64.16) of the population is vitamin D-deficient and 26.65 per cent (95 per cent CI: 21.63, 31.66) is insufficient in vitamin D. The highest level of vitamin D deficiency was reported from Sindh (62.15 per cent), followed by Khyber Pakhtunkhwa (60.57 per cent), Punjab (51.75 per cent) and the Federal Capital (49.25 per cent). Moreover, Cochran’s Q test indicated considerable heterogeneity (p = >0.001) with regard to Vitamin D deficiency (VDD) prevalence found among samples from the selected studies. Originality/value The present analysis suggests that more than half of the Pakistani population suffers from VDD, which, thus, should be considered as an epidemic and treated likewise.

show abstract

Section: Discussionmentioning

confidence: 96%

Section: Future Prospectsmentioning

confidence: 99%

Vitamin D deficiency in Pakistani population: critical overview from 2008 to 2018

Syed

Latif

Ahmed

et al. 2019

NFS

View full text Add to dashboard Cite

show abstract

“…Conversely, inconsistency among the different studies exists regarding TNF-α promoter polymorphisms’ association with RA outcome [14, 15]. There are limited data available concerning SNPs and RA disease susceptibility association in Pakistan [16, 17]. Still, there is a great need to explore the association studies of RA susceptible genes’ polymorphism not only in our study group but also in different ethnic groups due to conflicting results.…”

Section: Introductionmentioning

confidence: 96%

Lack of association of –863C/A (rs1800630) polymorphism of tumor necrosis factor-α gene with rheumatoid arthritis

Sadaf

John

Bhatti

et al. 2019

aoms

Self Cite

View full text Add to dashboard Cite

IntroductionMultifunctional pro-inflammatory cytokine tumor necrosis factor-α (TNF-α) has been implicated in a variety of inflammatory diseases including rheumatoid arthritis (RA). TNF-α polymorphisms are mostly located in its promoter region and play a significant role in disease susceptibility and severity. We therefore sought to investigate TNFA –863C/A (rs1800630) polymorphism association with RA activity in our Pakistani study group.Material and methodsA total of 268 human subjects were enrolled. Among them, 134 were RA patients and 134 were controls. In this study the physical parameters of RA patients were collected, and the disease activity was measured by DAS28. The genotypes were determined following the allele-specific PCR along with the pre-requisite internal amplification controls. Subsequently, data were analyzed statistically for any significant association including χ2/Fisher’s exact test using GraphPad prism 6 software.ResultsWe found that the TNF-α –863 C/A (rs1800630) variant was not differentially segregated between cases and controls in either genotype frequency, with χ2 of 2.771 and a p-value of 0.2502, or allele frequency, with χ2 of 2.741 and a p-value of 0.0978, with an odds ratio (95% CI) of 0.7490 (0.5317–1.055).ConclusionsThe lack of positive association of TNF-α –863(rs1800630) polymorphism in our study group implies that TNF-α –863 polymorphism is not a susceptible marker to RA and cannot serve as a genetic factor for screening RA patients in Pakistan. There might be other factors that may influence disease susceptibility. However, further investigations on additional larger and multi-regional population samples are required to determine the consequences of genetic variations for disease prognosis.

show abstract

Case-control study of vitamin D receptor gene polymorphism in Pakistani rheumatoid arthritis patients

Cited by 2 publications

References 12 publications

Vitamin D deficiency in Pakistani population: critical overview from 2008 to 2018

Vitamin D deficiency in Pakistani population: critical overview from 2008 to 2018

Lack of association of –863C/A (rs1800630) polymorphism of tumor necrosis factor-α gene with rheumatoid arthritis

Contact Info

Product

Resources

About