Genome-wide association study of 25(OH) Vitamin D concentrations in Punjabi Sikhs: Results of the Asian Indian diabetic heart study

Sapkota, Bishwa Raj; Hopkins, Ruth; Bjonnes, Andrew; Ralhan, Sarju; Wander, Gurpreet Singh; Mehra, N. K.; Singh, Jai Rup; Blackett, Piers R.; Saxena, Richa; Sanghera, Dharambir K.

doi:10.1016/j.jsbmb.2015.12.014

Cited by 46 publications

(44 citation statements)

References 44 publications

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“…Another association with a locus was suggested at rs11586313 in the regulatory region of the IVL gene located on chromosome 1q21.3. In addition, this study replicated known genes related with serum 25(OH)D concentrations adjusted for age, gender, body mass index, and type 1 diabetes status including GC (rs2282679) and CYP2R1 (rs12794714) reported in Europeans and the DAB1 (rs6680429), reported in Hispanics (Sapkota et al, ).…”

Section: Genetic Studies Of Vitamin Dsupporting

confidence: 73%

Genetic and epigenetic factors influencing vitamin D status

Bahrami

Sadeghnia

Tabatabaeizadeh

et al. 2017

Journal Cellular Physiology

105

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The global prevalence of vitamin D deficiency appears to be increasing, and the impact of this on human health is important because of the association of vitamin D insufficiency with increased risk of osteoporosis, cardiovascular disease and some cancers. There are few studies on the genetic factors that can influence vitamin D levels. In particular, the data from twin and family-based studies have reported that circulating vitamin D concentrations are partially determined by genetic factors. Moreover, it has been shown that genetic variants (e.g., mutation) and alteration (e.g., deletion, amplification, inversion) in genes involved in the metabolism, catabolism, transport, or binding of vitamin D to it receptor, might affect vitamin D level. However, the underlying genetic determinants of plasma 25-hydroxyvitamin D3 [25(OH)D] concentrations remain to be elucidated. Furthermore, the association between epigenetic modifications such as DNA methylation and vitamin D level has now been reported in several studies. The aim of current review was to provide an overview of the possible value of loci associated to vitamin D metabolism, catabolism, and transport as well epigenetic modification and environmental factors influencing vitamin D status.

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Section: Genetic Studies Of Vitamin Dsupporting

confidence: 73%

Genetic and epigenetic factors influencing vitamin D status

Bahrami

Sadeghnia

Tabatabaeizadeh

et al. 2017

Journal Cellular Physiology

105

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“…In Table 5, we showed that DL-GAP2 and DAB1 were involved with diabetes mellitus [25, 26]; HOXC4, HOXC5, and HOXC6 were related to obesity and fat accumulation in differentiated brown adipocytes [27-30]; MECOM was associated with hypertension [31]. It is interesting to note that, of these 288 DMPs, two probes (cg22151644 and cg18473521) were both annotated to gene HOXC4.…”

Section: Resultsmentioning

confidence: 99%

Genome-Wide DNA Methylation Profiles of Phlegm-Dampness Constitution

Yao¹,

Mo²,

Wang³

et al. 2018

Cell Physiol Biochem

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Background/Aims: Metabolic diseases are leading health concerns in today’s global society. In traditional Chinese medicine (TCM), one body type studied is the phlegm-dampness constitution (PC), which predisposes individuals to complex metabolic disorders. Genomic studies have revealed the potential metabolic disorders and the molecular features of PC. The role of epigenetics in the regulation of PC, however, is unknown. Methods: We analyzed a genome-wide DNA methylation in 12 volunteers using Illumina Infinium Human Methylation450 BeadChip on peripheral blood mononuclear cells (PBMCs). Eight volunteers had PC and 4 had balanced constitutions. Results: Methylation data indicated a genome-scale hyper-methylation pattern in PC. We located 288 differentially methylated probes (DMPs). A total of 256 genes were mapped, and some of these were metabolic-related. SQSTM1, DLGAP2 and DAB1 indicated diabetes mellitus; HOXC4 and SMPD3, obesity; and GRWD1 and ATP10A, insulin resistance. According to Ingenuity Pathway Analysis (IPA), differentially methylated genes were abundant in multiple metabolic pathways. Conclusion: Our results suggest the potential risk for metabolic disorders in individuals with PC. We also explain the clinical characteristics of PC with DNA methylation features.

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“…According to the latest conducted genome-wide association studies and candidate gene studies [19][20][21][22], some of the most remarkable associations include genes such as Hydroxyvitamin D-1-α hydroxylase (CYP27B1), vitD 25-hydroxylase (CYP2R1), vitD binding protein (DBP/GC), vitD receptor (VDR), vitD 24-hydroxylase (CYP24A1), 7-dehydrocholesterol reductase (DHCR7), retinoid X receptors (RXR), calcium-sensing receptor (CASR), NPY, FOXA2, SSTR4, and IVL. Several review articles illustrating and detailing all these findings have been published by Jolliffe et al [18] and by Bahrami et al [17].…”

Section: Genetic Mechanisms Influencing Vitd Statusmentioning

confidence: 99%

Genetic Factors and Molecular Mechanisms of Vitamin D and Obesity Relationship

et al. 2018

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Vitamin D (vitD) deficiency is associated with a wide range of chronic diseases and conditions, including obesity, and with an increasing severity of metabolic dysregulation, such as insulin resistance, hyperlipidemia, liver disease, and hypertension, both in children and adults. However, the nature of the association between low vitD status and obesity remains unclear. This fact has motivated the scientific community to conduct genetic association analyses between 25-hydroxyvitamin D (25[OH]D)-related genes and obesity traits. In this line, the variation in the vitD receptor (VDR) gene represents the bulk of the findings. Specifically, polymorphisms in the VDR gene have been associated with obesity traits in some but not all, studies. Thus, results regarding this matter remain inconclusive. Other genes aside from VDR have also been investigated in relation to obesity-related traits. However, again, findings have been inconsistent. In general, results point to the fact that the DBP/GC gene could be an important protein-linking obesity and vitD status. On the other hand, several studies have attempted to determine the molecular mechanism of the relationship between 25(OH)-D levels and obesity. Some of these studies suggest that vitD, due to its fat-soluble characteristic, is retained by the adipose tissue and has the capacity to metabolize 25(OH)-D locally, and this can be altered during obesity. Additionally, vitD is capable of regulating the gene expression related to adipogenesis process, inflammation, oxidative stress, and metabolism in mature adipocytes. Therefore, the aim of the present review was to evaluate the association between obesity and vitD deficiency describing the main molecular mechanism of the relationship and the link with genetic factors. Key Messages: Low serum 25(OH)-D is positively associated with obesity or BMI in adults and children. Circulating vitD concentrations are, at least, partially determined by genetic factors. VitD plays an important role in the adipogenesis process and inflammation status in adipocytes and adipose tissue.

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Genome-wide association study of 25(OH) Vitamin D concentrations in Punjabi Sikhs: Results of the Asian Indian diabetic heart study

Cited by 46 publications

References 44 publications

Genetic and epigenetic factors influencing vitamin D status

Genetic and epigenetic factors influencing vitamin D status

Genome-Wide DNA Methylation Profiles of Phlegm-Dampness Constitution

Genetic Factors and Molecular Mechanisms of Vitamin D and Obesity Relationship

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