Genetic variants of VDR and CYP2R1 affect BMI independently of serum vitamin D concentrations

被引：5

作者：

Bakos, Bence ^{[1
]}

Szili, Balazs ^{[1
]}

Szabo, Boglarka ^{[1
]}

Horvath, Peter ^{[2
]}

Kirschner, Gyongyi ^{[1
]}

Kosa, Janos P. ^{[1
]}

Toldy, Erzsebet ^{[3
]}

Lakatos, Peter ^{[1
]}

Tabak, Adam G. ^{[1
,4
,5
]}

Takacs, Istvan ^{[1
]}

机构：

[1] Semmelweis Univ, Dept Internal Med & Oncol, Fac Med, 1098 Koranyi S U 2-A, Budapest, Hungary

[2] Semmelweis Univ, Dept Pulmonol, Fac Med, Budapest, Hungary

[3] SYNLAB Diagnost Ctr, Clin Chem & Immunol Labs, Budapest, Hungary

[4] UCL, Dept Epidemiol & Publ Hlth, London, England

[5] Semmelweis Univ, Dept Publ Hlth, Fac Med, Budapest, Hungary

来源：

BMC MEDICAL GENETICS | 2020年 / 21卷 / 01期

关键词：

Vitamin D; BMI; Genetics; VDR; BODY-MASS INDEX; D-RECEPTOR; D DEFICIENCY; ASSOCIATION ANALYSIS; 25-HYDROXYVITAMIN D; METABOLIC SYNDROME; ADIPOSE-TISSUE; OBESITY; POLYMORPHISMS; FAT;

D O I：

10.1186/s12881-020-01065-3

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background Vitamin D metabolism and obesity have been linked by several studies, however the reason for this association is unclear. Our objective was to investigate potential correlations between genetic variants in key enzymes of vitamin D metabolism and the body mass index on a representative and random sample of Hungarian adults. Methods Altogether 462 severely vitamin D deficient individuals were studied at the end of winter in order to decrease environmental and maximize any relevant genetic effect. Furthermore, participants with lifestyle factors known to affect vitamin D homeostasis were also excluded. We selected 23 target SNPs in five genes that encode key proteins of vitamin D metabolism (NADSYN1, GC, CYP24A1, CYP2R1, VDR). Results Variants in 2 genetic polymorphisms; rs2853564 (VDR) and rs11023374 (CYP2R1) showed a significant association with participants' BMI. These associations survived further adjustment for total-, free-, or bioactive-25(OH) vitamin D levels, although the variance explained by these 2 SNPS in BMI heterogeneity was only 3.2%. Conclusion Our results show two novel examples of the relationship between genetics of vitamin D and BMI, highlighting the potential role of vitamin D hormone in the physiology of obesity.

引用

页数：8

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