Association analysis of vitamin D receptor gene polymorphisms in North England population with Type 2 diabetes mellitus

Sattar, Naila Abdul; Shaheen, Sumera; Hussain, Fatma; Jamil, Amer

doi:10.4314/ahs.v21i1.3

Cited by 5 publications

(4 citation statements)

References 36 publications

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“…Ultimately, they found no significant relationship between rs1544410 and T2D risk [24]. Also, a UK study found no significant correlation between rs1544410 and T2D risk [29]. In Malaysian patients, rs1544410 polymorphism was not associated with T2D, but in contrast, was an association between rs1544410 and the development of insulin resistance in T2D patients with poor glycemic control.…”

Section: Recent Findingsmentioning

confidence: 95%

“…Another published paper indicates that individuals with T2D and the C allele of rs2228570 may have an increased risk of periodontitis [28]. In contrast, some investigations show no significant association between rs2228570 and T2D [23,29] or glycemic status [23,39]. Also, a study in Malaysian patients with T2D with good or poor glycemic control indicated that rs2228570 was not associated with T2D.…”

Section: Recent Findingsmentioning

confidence: 99%

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Impact of vitamin D receptor polymorphisms in selected metabolic disorders

Fronczek

Osadnik

Banach

2023

Current Opinion in Clinical Nutrition &Amp; Metabolic Care

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Purpose of reviewVitamin D (vitD) can regulate metabolic pathways in adipose tissue and pancreatic β cells by interacting with its vitamin D receptor (VDR). The aim of this study was to review original publications published in the last months and verify the relationship between genetic variants in the VDR gene and type 2 diabetes (T2D), metabolic syndrome (MetS), overweight, and obesity.Recent findingsThe recent studies concern genetic variants located in the coding and noncoding regions of the VDR gene. Some of the described genetic variants may affect VDR expression or posttranslational processing altered functionality or vitD binding capacity of VDR. Nevertheless, the data collected in recent months on the assessment of the relationship between VDR genetic variants and the risk of T2D, MetS, overweight, and obesity still do not give a clear answer to whether they have a direct impact on these metabolic disorders.SummaryAnalysis of the potential association between VDR genetic variants and parameters such as glycemia, body mass index, body fat, and lipid levels improves the current understanding of the pathogenesis of T2D, MetS, overweight, and obesity. A thorough understanding of this relationship may provide important information for individuals with pathogenic variants and enable the implementation of appropriate prevention against the development of these disorders.

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Section: Recent Findingsmentioning

confidence: 95%

Section: Recent Findingsmentioning

confidence: 99%

Impact of vitamin D receptor polymorphisms in selected metabolic disorders

Fronczek

Osadnik

Banach

2023

Current Opinion in Clinical Nutrition &Amp; Metabolic Care

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“…It is imperative to know that none of the studies included in this review validated their genotyping results using sequencing. For quality control purposes and to ensure accuracy and precision, it is crucial to validate VDR gene variants using gene sequencing, as reported by previous studies (49)(50)(51). This gold-standard approach involves randomly selecting representative DNA samples for sequencing, which has the potential to effectively identify variations and reduce genotyping errors.…”

Section: Association Of Vdr Gene Variants With Hdp Detected Using Dif...mentioning

confidence: 99%

A plethora of laboratory protocols for vitamin D receptor (VDR) gene variants detection: a systematic review of associations with hypertensive disorders of pregnancy

Ibrahim,

Basri,

Jamil

et al. 2023

Preprint

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Introduction: Hypertensive disorders of pregnancy constitute the major cause of maternal morbidity and mortality. Genetic variation involving VDR gene variants was thought to play a significant role in aetiopathogenesis of HDP. Vitamin D receptor (VDR) gene polymorphisms are thought to be implicated in the development of hypertensive disorders of pregnancy (HDP). However, the association of the variants with HDP is inconsistently reported. The study aims to review the laboratory protocols of VDR variant detection and association with HDP. Methods This study involved one or more of the major VDR gene variants (FokI, BsmI, ApaI, and TaqI) in HDP. The Web of Science, PubMed, Scopus, MEDLINE and CINAHL databases were searched for articles. Preferred Reporting Items for Systematic Review and Meta-analysis (PRISMA) was used. The study was registered in the PROSPERO database (registration number CRD42022362561). Results Our analysis of VDR variant detection protocols revealed that approximately 6 (67%) studies used polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP), of which 3 (33%) reported a significant association with the FokI variant. Two (22%) of the studies used TaqMan PCR and found an association with the FokI variant. Only 1 (11%) study utilized allele-specific PCR (AS-PCR) to genotype the ApaI variant. Based on the analysis of the variants with populations, 4 studies (44%) reported an association with the FokI variant in Asians. Two studies (22%) reported that the BsmI variant is common among Caucasians. Conclusions The detection protocols evaluated were found to be sensitive in detecting some variants in certain populations but not in others, however, the variants were found to be population-specific. Our findings could potentially be useful in stimulating the discovery of distinct biomarkers specific to various populations and could as well prompt the personalised management of hypertension in pregnancy.

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“…The absence of significant differences in the occurrence of various FokI genotypes between patients with T2DM and healthy adults is shown in the works of N.A. Sattar [47], and I. Mahjoubi [31], as well as M.T. Malecki et al [34].…”

Section: Notes: Hom P -Homozygous Variant (Biallelic Single Nucleotid...mentioning

confidence: 99%

Генетично Детермінована Рецепція Вітаміну D При Метаболічно Нездоровому Ожирінні В Дітей

Абатуров¹,

Никулина²

2023

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Актуальність. Геномні ефекти вітаміну D визначаються конформаційними змінами в структурі рецептора вітаміну D (vitamin D receptor — VDR), детермінованими однонуклеотидними варіантами (single nucleotide variants — SNV) гена VDR. Метою нашого дослідження є вивчення асоціації SNV гена VDR із метаболічно нездоровим ожирінням (МНО) в дітей. Матеріали та методи. Обстежено 252 дитини з ожирінням віком 6–18 років. Основну групу (n = 152) становили діти з МНО. Контрольну групу (n = 100) представили діти з метаболічно здоровим ожирінням. У 31 дитини основної та 21 дитини контрольної груп проведено повногеномне секвенування (CeGat, Germany). В усіх пацієнтів вимірювали рівень сироваткового 25-гідроксивітаміну D (Synevo, Ukraine). Для верифікації результатів застосовували розрахунок коефіцієнта кореляції Спірмена (r) і p-значення для кожної змінної, а також біоінформаційний аналіз. Результати. Ідентифіковано п’ять SNV гена VDR: rs2228570 (1 варіація числа копій ДНК (CNV): c.2T>C у 94,23 %); rs731236 (2 CNV: c.11056T>C, c.1206T>C у 65,38 %); rs10783218 (2 CNV: c.296+8C>T, c.146+8C>T у 7,69 %); rs2228572 (2 CNV: c.57C>T, c.207C>T в 1,92 %); rs12721365 (2 CNV: c.1059C>T, c.909C>T в 1,92 % пацієнтів). Кореляція між дефіцитом вітаміну D і SNV VDR відзначена для таких генотипів: AA rs12721365 (r = 0,41), AA rs2228572 (r = 0,39) та GG rs 2228570 (r = –0,27), p < 0,05. Кореляція між SNV VDR та МНО спостерігалася при таких генотипах: AA rs12721365 (r = 0,21), AA rs2228572 (r = 0,21), GG rs731236 (r = –0,15) та GG rs2228570 (r = –0,31), p < 0,05. Висновки. Генотипи AG SNV VDR rs12721365, rs2228572 високо асоційовані з розвитком МНО.

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Association analysis of vitamin D receptor gene polymorphisms in North England population with Type 2 diabetes mellitus

Cited by 5 publications

References 36 publications

Impact of vitamin D receptor polymorphisms in selected metabolic disorders

Impact of vitamin D receptor polymorphisms in selected metabolic disorders

A plethora of laboratory protocols for vitamin D receptor (VDR) gene variants detection: a systematic review of associations with hypertensive disorders of pregnancy

Генетично Детермінована Рецепція Вітаміну D При Метаболічно Нездоровому Ожирінні В Дітей

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