Genetic variations of CYP2R1 (rs10741657) in Bangladeshi adults with low serum 25(OH)D level—A pilot study

Rahman, Kazi Lutfar; Akhter, Qazi Shamima; Rahman, Md. Shafiqur; Rahman, Ridwana; Rahman, Samina; Mukta, Farzana Yeasmin; Sarker, Sudipta

doi:10.1371/journal.pone.0260298

Cited by 4 publications

(4 citation statements)

References 27 publications

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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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Section: Resultssupporting

confidence: 72%

Untitled

2023

J. Med. Chem. Sci.

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“…An SNP (rs1041657) in the CYP2R1 gene has been correlated with vitamin D differences in serum. For instance, studies have reported that individuals carrying the G allele had lower vitamin D levels in serum, concluding that the rs1041657 has a vital role in determining vitamin D levels ( 40 , 41 ). The frequency of the G allele in Latin America is 0.64, whereas for the A allele is 0.36 ( 20 ).…”

Section: Genetics In Obesity In the Latin American Populationmentioning

confidence: 99%

“…Various human genetics studies have associated PCSK1 with metabolic phenotypes such as early onset obesity, intestinal malabsorption, gastrointestinal complications, diabetes, and reactive hypoglycemia ( 38 , 39 ). The availability of various PCSK1 mouse models made it possible to investigate its function and expression in different tissues (brain, brainstem, pancreas, intestine, stomach, and immune cells) ( 40 , 41 ).…”

Section: Genomics and Diet Interaction In Obesity In The Latin Americ...mentioning

confidence: 99%

Genetics, genomics, and diet interactions in obesity in the Latin American environment

et al. 2022

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Obesity is a chronic disease characterized by abnormal or excessive fat accumulation that could impact an individual’s health; moreover, the World Health Organization (WHO) has declared obesity a global epidemic since 1997. In Latin America, in 2016, reports indicated that 24.2% of the adult population was obese. The environmental factor or specific behaviors like dietary intake or physical activity have a vital role in the development of a condition like obesity, but the interaction of genes could contribute to that predisposition. Hence, it is vital to understand the relationship between genes and disease. Indeed, genetics in nutrition studies the genetic variations and their effect on dietary response; while genomics in nutrition studies the role of nutrients in gene expression. The present review represents a compendium of the dietary behaviors in the Latin American environment and the interactions of genes with their single nucleotide polymorphisms (SNPs) associated with obesity, including the risk allele frequencies in the Latin American population. Additionally, a bibliographical selection of several studies has been included; these studies examined the impact that dietary patterns in Latin American environments have on the expression of numerous genes involved in obesity-associated metabolic pathways.

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“…Связь полиморфизма РВD rs10741657 с уровнем витамина D в сыворотке крови была подтверждена в двух исследованиях (одно -среди европейцев, другое -азиатов) [8,9]. В исследовании, прове денном в в Республике Бангладеш, показано, что носители двух аллелей G (G/G) имеют более низкий уровень витамина D, чем носители одного аллеля (A/G), которые, в свою очередь, в среднем имеют более низкий уровень витамина D, чем индивидуу мы с генотипом A/A [10].…”

Section: Introductionunclassified

Analysis of Molecular Genetic Markers of Osteoporosis in Residents of the Russian Federation

Polibin,

Lomonosova,

Glushkova

et al. 2023

Epidemiology and Vaccinal Prevention

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Relevance. Osteoporosis is a multifactorial disease with a high level of disability, which is a serious health problem worldwide. High prevalence and disability rates are associated not only with the peculiarities of the course of this pathology, but also with the untimely diagnosis and initiation of therapy. Therefore, it is extremely relevant to search for specific and accessible markers of osteoporosis, such as molecular genetic markers or single-nucleotide polymorphisms, analysis of which will help identify risk factors for disease development before clinical symptoms manifest during patient examinations.Aims. This study is aimed at finding risk factors for the development of HCG in patients with gastritis and the relationship of polymorphisms of various genes with the development of this pathology.Materials and methods. A search was made for the association with osteoporosis of singlenucleotide polymorphisms of the genes: COL1A1, CYP2R1, ESR1, LCT, LRP5, VDR in residents of the Russian Federation (n = 669). Polymorphic markers of candidate genes were selected for research based on the presence of associations with osteoporosis according to previously conducted studies published in the RSCI, PubMed, Web of Science, MEDLINE, Scopus databases, as well as on the results of monitoring polymorphisms included in the panels of genetic predisposition to osteoporosis of companies engaged in genetic testing in the Russian Federation. Two groups were formed for the study: the main (case) – 234 patients with an established diagnosis of Osteoporosis, the control – 435 patients selected using a random number generator from conditionally healthy individuals from the Basis Genomic Group database (Basis Genomics LLC). The groups were comparable in age and gender (p > 0.05).Statistical analysis was carried out using the StatTech v. 3.1.6. program (developed by Stattech LLC, Russia). The nature of the distribution of quantitative data was checked by the Shapiro-Wilk, Kolmogorov-Smirnov criteria, the statistical significance of differences in 2 independent groups was assessed using the Mann-Whitney U-test. The ꭓ2 Pearson criterion was used to evaluate the associations of alleles of selected genes with the risk of osteoporosis.Results and discussions. Analysis of the maps of 669 patients showed that for residents of the Russian Federation, the polymorphism rs3736228 of the LRP5 gene can be used as a genetic marker of osteoporosis, since there were significant differences in the frequency of occurrence of CT and TT allele variants in the group of patients with osteoporosis and in the control group. Results of studies of single-nucleotide polymorphisms COL1A1_rs1800012_G/T, CYP2R1_rs10741657_A/G, ESR1_rs2234693_C/T, ESR1_rs9340799_A/G, LCT_rs4988235_C/T, VDR_rs1544410_A/G, VDR_rs2228570_C/T in residents of the Russian Federation The federations did not show significant differences between the groups, therefore, in the future, the results of studies of these polymorphisms to assess the risk of osteoporosis in patients should be evaluated with caution.Conclusions. According to the results of the study conducted on residents of the Russian Federation, only one of the eight alleles in candidate genes for the risk of osteoporosis showed a significant relationship in patients in the Russian Federation. It has been shown that variants of TT and CT polymorphism rs3736228 of the LRP5 gene are the risk genotype for osteoporosis.

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Genetic variations of CYP2R1 (rs10741657) in Bangladeshi adults with low serum 25(OH)D level—A pilot study

Cited by 4 publications

References 27 publications

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Genetics, genomics, and diet interactions in obesity in the Latin American environment

Analysis of Molecular Genetic Markers of Osteoporosis in Residents of the Russian Federation

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