Contribution of CYP24A1 variants in coronary heart disease among the Chinese population

Peng, Qian; Cao, Xin; Xu, Xianjing; Duan, Mingqin; Zhang, Qian; Huang, Gairong

doi:10.1186/s12944-020-01356-x

Cited by 13 publications

(9 citation statements)

References 27 publications

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“…In addition to the classic risk factors such as age, smoking, drinking, hypertension, diabetes, and hypercholesterolemia [ 9 ], a large number of studies have confirmed that genetic factors play an important role in the occurrence and development of CHD [ 10 ]. Besides, many genetic variants such as LPA [ 11 ], CYP24A1 [ 12 ], CYP2C19 [ 13 ], PNPLA3 I148M [ 14 ], and IL-7 / 7R [ 15 ] can significantly affect the susceptibility of CHD.…”

Section: Introductionmentioning

confidence: 99%

The effect of CYP7B1 polymorphisms on the risk of coronary heart disease in Hainan Han population

et al. 2021

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Background Coronary heart disease (CHD) is the leading cause of human death worldwide. Genetic factors play an important role in the occurrence of CHD. Our study is designed to investigate the influence of CYP7B1 polymorphisms on CHD risk. Methods In this case–control study, 508 CHD patients and 510 healthy individuals were recruited to determine the correlation between CYP7B1 polymorphisms (rs7836768, rs6472155, and rs2980003) and CHD risk. The associations were evaluated by computing odds ratios (OR) and 95% confidence intervals (CI) with logistic regression analysis. The association between SNP-SNP interaction and CHD susceptibility was carried out by multifactor dimensionality reduction analyses. Results Our study found that rs6472155 is significantly associated with an increased risk of CHD in age > 60 years (OR 2.20, 95% CI = 1.07–4.49, p = 0.031), women (OR 3.17, 95% CI = 1.19–8.44, p = 0.021), and non-smokers (3.43, 95% CI = 1.16–10.09, p = 0.025). Rs2980003 polymorphism has a lower risk of CHD in drinkers (OR 0.47, 95% CI = 0.24–0.91, p = 0.025). Further analyses based on false-positive report probability validated these significant results. Besides, it was found that rs6472155 polymorphism was associated with uric acid level (p = 0.034). Conclusion Our study indicated that CYP7B1 polymorphisms are related to the risk of CHD, which provides a new perspective for prevent of CHD.

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Section: Introductionmentioning

confidence: 99%

The effect of CYP7B1 polymorphisms on the risk of coronary heart disease in Hainan Han population

et al. 2021

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“…Although no studies have shown a relationship between the polymorphisms of CYP24A1, CYP27B1, and NAFLD, these variants have been extensively investigated in other diseases, such as organ-specific autoimmune endocrine diseases (Ma et al, 2020), CVD (Qian et al, 2020), metabolic diseases (Yu et al, 2020), and multiple cancers (Hibler et al, 2015;Torkko et al, 2020). Our results also confirmed that NAFLD patients with a combined load of unfavorable alleles (rs2296241-A, rs2248359-T, and rs4646536-T) exhibited an association with the increase in NAFLD risk, and this association was also in a dose-dependent manner.…”

Section: Discussionmentioning

confidence: 99%

“…On the other hand, 1,25(OH) 2 D 3 can be decomposed by 1,25-hydroxyvitamin-D3-24-hydroxylase encoded by cytochrome P450 family 24 subfamily A member 1 (CYP24A1) gene, maintaining the balance of vitamin D metabolism in vivo. Several genetic studies have reported that common single nucleotide polymorphisms (SNPs) in vitamin D pathway genes are associated with low-level serum 25(OH)D, including vitamin D receptor (VDR), vitamin D-binding protein (VDBP), CYP2R1, CYP24A1, and CYP27B1 (Bedogni et al, 2006;Angulo et al, 2007;Wang et al, 2010;Boyle et al, 2012;Visscher et al, 2012;Zhu and DeLuca, 2012;Dastani et al, 2013;Braithwaite et al, 2015;Hibler et al, 2015;Woods et al, 2015;Jolliffe et al, 2016;Jung and Shin, 2016;Cheng et al, 2017;Thacher and Levine, 2017;Gibson et al, 2018; National Workshop on Fatty Liver and Alcoholic Liver Disease, Chinese Society of Hepatology, Association et al, 2018;Arai et al, 2019;Cho et al, 2019;Younossi, 2019;Zhang et al, 2019;Liu et al, 2020;Ma et al, 2020;Qian et al, 2020;Torkko et al, 2020;Yu et al, 2020). Genome-wide association studies (GWAS) have also identified that variants near these genes are associated with vitamin D status (Wang et al, 2010;Visscher et al, 2012).…”

Section: Introductionmentioning

confidence: 99%

Genetic Polymorphism of Vitamin D Family Genes CYP2R1, CYP24A1, and CYP27B1 Are Associated With a High Risk of Non-alcoholic Fatty Liver Disease: A Case-Control Study

et al. 2021

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BackgroundPrevious studies have highlighted the important role of vitamin D and calcium pathway genes in immune modulation, cell differentiation and proliferation, and inflammation regulation, all closely implicated in the pathogenesis of non-alcoholic fatty liver disease (NAFLD).ObjectiveThis study aims to investigate whether 11 candidate single nucleotide polymorphisms (SNPs) in vitamin D and calcium pathway genes (CYP2R1, CYP24A1, and CYP27B1) are associated with the risk of NAFLD.MethodsIn this case-control study, a total of 3,023 subjects were enrolled, including 1,114 NAFLD cases and 1,909 controls. Eleven genetic variants in CYP2R1, CYP24A1, and CYP27B1 genes were genotyped. Logistic regression analysis was used to assess the effects of these variants on NAFLD risk. The functional annotations of positive SNPs were further evaluated by bioinformatics analysis.ResultsAfter adjusting for age, gender, and metabolic measures, we identified that CYP24A1 rs2296241 variant genotypes (recessive model: OR, 1.316; 95% CI, 1.048–1.653; p = 0.018), rs2248359 variant genotypes (recessive model: OR, 1.315; 95% CI, 1.033–1.674; p = 0.026), and CYP27B1 rs4646536 variant genotypes (additive model: OR, 1.147; 95% CI, 1.005–1.310; p = 0.042) were associated with an elevated risk of NAFLD. In combined effects analysis, we found that NAFLD risk significantly increased among patients carrying more rs2296241-A, rs2248359-T, and rs4646536-T alleles (ptrend = 0.049). Multivariate stepwise analysis indicated that age, visceral obesity, ALT, γ-GT, hypertriglyceridemia, hypertension, low HDL-C, hyperglycemia, and unfavorable alleles were independent predictors of NAFLD (all p < 0.05). The area under the receiver operating characteristic curve was 0.789 for all the above factors.ConclusionThe polymorphisms of vitamin family genes CYP24A1 (rs2296241, CYP24A1, and rs2248359) and CYP27B1 (rs4646536) were associated with NAFLD risk in Chinese Han population, which might provide new insight into NAFLD pathogenesis and tools for screening high-risk population.

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“…Genome-wide studies have emphasized the role of vitamin D pathway genes in many processes that are strongly linked to NAFLD, such as immunological alteration, cellular differentiation, and inflammatory processes [133,134]. Various genetic studies have revealed frequent single nucleotide polymorphisms (SNPs) in vitamin D pathway genes and highlighted their association with low serum vitamin D levels both in healthy subjects and those with hepatitis, such as the genes for CYP2R1 and CYP27B1 [133], while mutations in the CYP24A1 gene, responsible to vitamin D degradation [135], causes calcitriol elevation [136]. A case-control study that investigated the effect of vitamin D gene SNPs has shown that alleles CYP24A1 rs2296241-A, rs2248359-T, and CYP27B1 rs4646536-T were all considered a risk factor for NAFLD when combined with other clinical factors [134].…”

Section: The Association Between Nafld and Vddmentioning

confidence: 99%

The Interplay of Vitamin D Deficiency and Cellular Senescence in The Pathogenesis of Obesity-Related Co-Morbidities

et al. 2021

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This scoping review aims to clarify the interplay between obesity, vitamin D deficiency, cellular senescence, and obesity-related metabolic consequences, mainly subclinical atherosclerosis, and non-alcoholic fatty liver disease (NAFLD). Obesity is a significant global health problem that involves cellular, environmental, behavioral, and genetic elements. The fundamental cause of obesity throughout all life stages is an energy imbalance, and its consequences are countless and, foremost, very common. Obesity has been comprehensively studied in the literature given its association with low serum vitamin D, with many proposed mechanisms linking the two conditions. Moreover, markers of exaggerated cellular senescence have been proven to accumulate in obese individuals. Subclinical atherosclerosis initiates an early stage that ends in serious cardiac events, and obesity, low vitamin D, and senescent cells largely contribute to its associated chronic low-grade inflammation. Furthermore, NAFLD signifies the hepatic manifestation of metabolic syndrome, and studies have highlighted the important role of obesity, vitamin D deficiency, and cellular senescence in its development. Therefore, we outlined the most important mechanisms tying these conditions to one another.

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Contribution of CYP24A1 variants in coronary heart disease among the Chinese population

Cited by 13 publications

References 27 publications

The effect of CYP7B1 polymorphisms on the risk of coronary heart disease in Hainan Han population

The effect of CYP7B1 polymorphisms on the risk of coronary heart disease in Hainan Han population

Genetic Polymorphism of Vitamin D Family Genes CYP2R1, CYP24A1, and CYP27B1 Are Associated With a High Risk of Non-alcoholic Fatty Liver Disease: A Case-Control Study

The Interplay of Vitamin D Deficiency and Cellular Senescence in The Pathogenesis of Obesity-Related Co-Morbidities

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