Association of CYP2R1 gene polymorphisms in pulmonary tuberculosis

Harishankar, M.; Sampath, Pavithra; Sriram, Madhuvanthi; Raghuraman, Rajagopalan; Athikesavan, Veerasamy; Ponnuraja, C; Velayutham, Banurekha; Putcha, Uday Kumar; Tripathy, Srikanth; Ranganathan, Uma Devi; Selvaraj, P.; Bethunaickan, Ramalingam

doi:10.1016/j.mgene.2021.100875

Cited by 6 publications

(4 citation statements)

References 31 publications

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“…In our study, higher level of 25(OH)D was found in children with AA genotype of CYP2R1 whereas lower level was observed in GG genotype. These findings are in line with the results of another study where a higher level of 25(OH)D was found in the study participants with AA genotype while lower level was observed in GG genotype 54 . CYP27B1 gene encodes the vitamin-D-1α-hydroxylase which converts 25-(OH) D into active vitamin D metabolite 1,25(OH) 2 D .…”

Section: Discussionsupporting

confidence: 92%

Sunlight, dietary habits, genetic polymorphisms and vitamin D deficiency in urban and rural infants of Bangladesh

Das

Hasan

Mohsin

et al. 2022

Sci Rep

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We conducted an observational study to assess the prevalence and risk factors of vitamin D deficiency in 12–24 months old children living in urban and rural Bangladesh. Serum 25-hydroxyvitamin D (free 25(OH)D) level, socio-demographic status, anthropometric status, dietary intake, exposure to sunlight and single nucleotide polymorphisms in vitamin-D pathway genes were measured in 208 children. Vitamin D deficiency (free 25(OH)D < 50 nmol/l) was reported in 47% of the children. Multivariable logistic regression model identified duration to sunlight exposure (regression coefficient, β = − 0.01; 95% CI 0.00, − 0.02; p-value < 0.05), UV index (β = − 0.36; 95% CI 0.00, − 0.02; p-value < 0.05) and breast-feeding (β = − 1.15; 95% CI − 0.43, − 1.86; p-value < 0.05) to be negatively associated with vitamin D deficiency. We measured the role of single nucleotide polymorphisms in pathway genes (GC-rs7041 T > G, rs4588 C > A, CYP2R1-rs206793 A > G, CYP27B1-rs10877012 A > C and DHCR7-rs12785878 G > T) and found statistically significant differences in serum vitamin D levels between various genotypes. SNPs for CYP27B1 (CA & CC genotype) had statistically significant positive association (β = 1.61; 95% CI 2.79, 0.42; p-value < 0.05) and TT genotype of GC-rs7041 had negative association (β = − 1.33; 95% CI − 0.02, − 2.64; p-value < 0.05) with vitamin-D deficiency in the surveyed children.

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Section: Discussionsupporting

confidence: 92%

Sunlight, dietary habits, genetic polymorphisms and vitamin D deficiency in urban and rural infants of Bangladesh

Das

Hasan

Mohsin

et al. 2022

Sci Rep

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“…In this research, the most common frequency distribution for the heterozygous genotype was the GA genotype, with 33 people (39.3%), and the least common genotype was the AA genotype with 20 people (23.8%). This result is in accordance with a study on healthy individuals in Denmark, and a study on unhealthy individuals in Jordan, Serbia, and Chennai (India), where the GA genotype of CYP2R1 rs10741657 was the largest genotype amount that was reported, but it was not in accordance with a study with healthy subjects in Singapore, Jordan, and Bangladesh, that reported the GG genotype in CYP2R22 rs10741657 was the largest that was reported [25][26][27][28][29][30]. The difference in the genotype differences can be attributed due to the variance in the continent of origins, country of origins, and the population's race.…”

Section: Resultssupporting

confidence: 72%

Untitled

2023

J. Med. Chem. Sci.

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Background: Vitamin D levels are affected by several vitamin D metabolism gene. The genetic variations of vitamin D metabolism gene, such as the CYP gene, plays a role in the first and the second vitamin D hydroxylation pathway, in which this will affect the levels of vitamin D serum. Low levels of vitamin D can play a role in the risk development of chronic infection diseases, and even malignancy; one of the aforementioned infections is the M. tuberculosis infection, so that on pregnant with LTBI are at a higher risk of developing into an active TB infection, especially if they are experiencing vitamin D deficiency. Methods: The design used in this study is a case control study that follows 84 pregnant mothers on their third trimester from three hospitals in Medan, North Sumatera. The subject of this study is 42 pregnant mothers with LTBI and 42 pregnant mothers without LTBI. This study was conducted throughout December 2021 until July 2022. The assessed parameters are the IGRA and the vitamin D levels on pregnant mothers, which then will be further correlated with the CYP2R1 rs10741657 and CYP27B1 rs10877012 gene polymorphism. Further analysis utilized the Chi-squared test and the Fisher test.Results: This study reported that 42,85% pregnant mothers with LTBI experienced vitamin D deficiency. This study also reported that there is not a significant correlation between CYP2R1 rs10741657 and CYP27B1 rs10877012 gene polymorphism and vitamin D levels (p = 0.541 and 0.057), and there is not a signification correlation between CYP2R1 rs10741657 and CYP27B1 rs10877012 gene polymorphism and the incidence of LTBI (p = 0.03; p = 0.001). Conclusions: There is no signification correlation between CYP2R1 rs10741657 and CYP27B1 rs10877012 gene polymorphism on the incidence of LTBI and the vitamin D levels on pregnant with LTBI.

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“…Genetic changes in genes involved in the metabolism, transport, or binding of vitamin D, may result in its deficiency [4,[39][40][41][42][43][44]. The major single nucleotide polymorphisms (SNPs) of the VDR gene have been suggested to be associated with an increased risk of lower respiratory tract and viral infections in children [44][45][46][47][48].…”

Section: Discussionmentioning

confidence: 99%

“…The major single nucleotide polymorphisms (SNPs) of the VDR gene have been suggested to be associated with an increased risk of lower respiratory tract and viral infections in children [44][45][46][47][48]. In parallel, published evidence supports a major role of the rs10741657 polymorphism of the CYP2R1 gene in vitamin D deficiency [42,43,49,50].…”

Section: Discussionmentioning

confidence: 99%

Role of Vitamin D and Vitamin D Polymorphisms in COVID-19 Risk and Severity in Children: A Systematic Review

Giatraki,

Galanakis,

Perdikogianni

2024

Cureus

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The role of vitamin D in the susceptibility to coronavirus disease 2019 (COVID-19) disease has been investigated since the beginning of the pandemic, but there is still scarce data on children. We investigated the impact of vitamin D status and the related genetic variants on COVID-19 vulnerability and severity of the disease in children. A systematic review was performed in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, to identify reports on vitamin D status and genetic polymorphisms, their association with the susceptibility of children to COVID-19 and multisystem inflammatory syndrome in children (MIS-C), and the effect of supplementation on the clinical course. Of an initial total of 279 articles, 26 studies, published between September 2020 and May 2023, were finally included in this review according to inclusion criteria. Quantitative data provided by 11 studies revealed that 43.05% of pediatric COVID-19 patients had low vitamin D levels. Mean serum 25(OH)D levels were observed to be significantly low in COVID-19 cases, with an estimated pooled mean value of 17 ng/mL, as provided by 16 studies. Vitamin D deficiency and the vitamin D receptor (VDR) FokI polymorphism may suggest independent risk factors for susceptibility to COVID-19 in the pediatric population. The 25(OH)D level may constitute a significant biomarker associated with the COVID-19 severity and MIS-C. While supplementation of COVID-19 cases with vitamin D showed favorable results, the effect on the outcome of the disease remains uncertain.

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Association of CYP2R1 gene polymorphisms in pulmonary tuberculosis

Cited by 6 publications

References 31 publications

Sunlight, dietary habits, genetic polymorphisms and vitamin D deficiency in urban and rural infants of Bangladesh

Sunlight, dietary habits, genetic polymorphisms and vitamin D deficiency in urban and rural infants of Bangladesh

Untitled

Role of Vitamin D and Vitamin D Polymorphisms in COVID-19 Risk and Severity in Children: A Systematic Review

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