Vitamin D Receptor (VDR) Genetic Variants: Relationship of FokI Genotypes with VDR Expression and Clinical Disease Activity in Systemic Lupus Erythematosus Patients

被引：18

作者：

Meza-Meza, Monica R. ^{[1
,2
]}

Vizmanos, Barbara ^{[1
,3
]}

Rivera-Escoto, Melissa ^{[1
,2
]}

Ruiz-Ballesteros, Adolfo, I ^{[1
,2
]}

Pesqueda-Cendejas, Karen ^{[1
,2
]}

Parra-Rojas, Isela ^{[1
,4
]}

Montoya-Buelna, Margarita ^{[1
,5
]}

Luquin, Sonia ^{[2
]}

Campos-Lopez, Bertha ^{[1
,2
]}

Mora-Garcia, Paulina E. ^{[1
,2
]}

Cerpa-Cruz, Sergio ^{[6
]}

De la Cruz-Mosso, Ulises ^{[1
,2
]}

机构：

[1] Univ Guadalajara, Ctr Univ Ciencias Salud, Red Inmunonutr & Genom Nutr Enfermedades Autoinmu, Guadalajara 44340, Jalisco, Mexico

[2] Univ Guadalajara, Ctr Univ Ciencias Salud, Inst Neurociencias Traslac, Dept Neurociencias, Guadalajara 44340, Jalisco, Mexico

[3] Univ Guadalajara, Ctr Univ Ciencias Salud, Dept Clin Reprod Humana Crecimiento & Desarrollo, Lab Evaluac Estado Nutr, Guadalajara 44340, Jalisco, Mexico

[4] Univ Autonoma Guerrero, Fac Ciencias Quim Biol, Lab Invest Obesidad & Diabet, Chilpancingo De Los Brav 39087, Mexico

[5] Univ Guadalajara, Ctr Univ Ciencias Salud, Lab Inmunol, Guadalajara 44340, Jalisco, Mexico

[6] OPD Hosp Civil Guadalajara Fray Antonio Alcalde, Dept Reumatol, Guadalajara 44280, Jalisco, Mexico

来源：

GENES | 2022年 / 13卷 / 11期

关键词：

VDR; polymorphism; FokI; BsmI; ApaI; TaqI; vitamin D; calcidiol; calcitriol; ASSOCIATION; POLYMORPHISMS; LINKAGE; INDEX; RISK; TNF;

D O I：

10.3390/genes13112016

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Vitamin D (VD) deficiency is more frequent in systemic lupus erythematosus (SLE) patients than in control subjects (CS); genetic variants in the VD receptor (VDR) could contribute to the clinical disease activity. This study was aimed to determine the association of the VDR variants FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) with susceptibility to the disease, VD status, VDR mRNA expression, and clinical disease activity in SLE patients. A cross-sectional study was conducted in 194 SLE and 196 CS Mexican women. Immunoassays quantified serum calcidiol and calcitriol. Genotyping was performed by allelic discrimination assays and mRNA VDR expression by qPCR. The FokI variant was not in linkage disequilibrium with BsmI, ApaI, and TaqI VDR variants. SLE patient carriers of the TT FokI genotype showed higher clinical disease activity scores. Notably, the mRNA VDR expression was higher in SLE patients vs. CS, in active vs. inactive SLE patients, and in participants of both study groups with vitamin D deficiency, higher calcitriol levels, and TT FokI genotype carriers. In conclusion, the TT FokI VDR genotype was related to high VDR expression and clinical disease activity in systemic lupus erythematosus patients.

引用

页数：20

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