Association of polymorphic variants of PTPN22, TNF and VDR systems in children with lupus nephritis: a study in trios of Colombian families

Garavito, Gloria; Egea, Eduardo; Mercado, Luis Fang; Malagón, Clara; Olmos, Carlos; González, Lino; Guarnizo, Pilar; Aroca, Gustavo; López, Guillermo; Iglesias, Antonio

doi:10.7705/biomedica.v37i3.3247

Cited by 7 publications

(5 citation statements)

References 27 publications

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“…A strong LD indicates that their alleles are segregated in a block (called a haplotype) from one generation to another and may confer a similar risk [ 40 ]. Similar to our study, in various populations, such as Caucasian subjects with liver cirrhosis [ 42 ], children with lupus nephritis from Colombia [ 43 ], and postmenopausal women from western Mexico [ 33 ], the Bsml , Apal , and Taql have been described with strong linkage disequilibrium. In contrast, Fokl is on a low DL with the other VDR variants [ 33 , 42 , 43 ].…”

Section: Discussionsupporting

confidence: 86%

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

Meza-Meza

Vizmanos

Rivera-Escoto

et al. 2022

Genes

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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.

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Section: Discussionsupporting

confidence: 86%

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

Meza-Meza

Vizmanos

Rivera-Escoto

et al. 2022

Genes

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“…Due to the closeness of these four VDR SNPs, they were studied to determine their LD. In various populations of SLE, RA, and MS patients, the BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) VDR SNPs were described with a strong LD [94,95], which infers that the alleles of these three polymorphisms could segregate into haplotypes from one generation of persons to another. In the case of FokI (rs2228570), it was described in a low LD with the other three VDR SNPs, which suggests that FokI does not segregate in blocks with others downstream VDR SNPs [94,95].…”

Section: Taqi (Rs731236) Vdr Snpmentioning

confidence: 99%

“…In various populations of SLE, RA, and MS patients, the BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) VDR SNPs were described with a strong LD [94,95], which infers that the alleles of these three polymorphisms could segregate into haplotypes from one generation of persons to another. In the case of FokI (rs2228570), it was described in a low LD with the other three VDR SNPs, which suggests that FokI does not segregate in blocks with others downstream VDR SNPs [94,95]. However, because the genetic recombination points vary between populations, FokI was also studied in haplotypes together with the BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) VDR SNPs in several populations [96][97][98].…”

Section: Taqi (Rs731236) Vdr Snpmentioning

confidence: 99%

“…In addition to risk alleles and genotypes in key enzymes of vitamin D metabolism to SLE, several studies have analyzed these VDR polymorphisms in their haplotype conformation. In a study of genetic association in children with lupus nephritis from Colombia, BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) VDR SNPs presented a high LD (D = 0.807), in which no association between the genetic variables with the endotype of lupus nephritis was demonstrated [94]. In a southeast Iranian population of SLE patients and control subjects, where only TaqI (rs731236) and ApaI (rs7975232) VDR SNPs were reported in DL (D = 0.42).…”

Section: Systemic Lupus Erythematosus (Sle)mentioning

confidence: 99%

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Association of Vitamin D Metabolism Gene Polymorphisms with Autoimmunity: Evidence in Population Genetic Studies

Ruiz-Ballesteros

Meza-Meza

Vizmanos

et al. 2020

IJMS

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A high prevalence of vitamin D (calcidiol) serum deficiency has been described in several autoimmune diseases, including multiple sclerosis (MS), rheumatoid arthritis (AR), and systemic lupus erythematosus (SLE). Vitamin D is a potent immunonutrient that through its main metabolite calcitriol, regulates the immunomodulation of macrophages, dendritic cells, T and B lymphocytes, which express the vitamin D receptor (VDR), and they produce and respond to calcitriol. Genetic association studies have shown that up to 65% of vitamin D serum variance may be explained due to genetic background. The 90% of genetic variability takes place in the form of single nucleotide polymorphisms (SNPs), and SNPs in genes related to vitamin D metabolism have been linked to influence the calcidiol serum levels, such as in the vitamin D binding protein (VDBP; rs2282679 GC), 25-hydroxylase (rs10751657 CYP2R1), 1α-hydroxylase (rs10877012, CYP27B1) and the vitamin D receptor (FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) VDR). Therefore, the aim of this comprehensive literature review was to discuss the current findings of functional SNPs in GC, CYP2R1, CYP27B1, and VDR associated to genetic risk, and the most common clinical features of MS, RA, and SLE.

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“…OPN is a proinflammatory cytokine, and its overexpression is observed in the blood and affected tissues of SLE patients. High levels of OPN have been associated with the presence and severity of SLE; it contributes to immune dysregulation by promoting the activation of immune cells and the production of proinflammatory molecules and plays a role in the formation of autoantibodies, which are a hallmark of SLE [6]. Autoantibodies are produced by the immune system and target the body's own proteins and DNA.…”

Section: Introductionmentioning

confidence: 99%

Association of the rs1126616 and rs9138 Variants in the SPP1 Gene among Mexican Patients with Systemic Lupus Erythematosus and Lupus Nephritis

Rivera-Cameras,

Gallegos-Arreola,

Morán-Moguel

et al. 2024

IJMS

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Systemic lupus erythematosus (SLE) is a multisystem disease considered a prototype of the main autoimmune disease and presents serious complications, such as lupus nephritis (LN), which generates a significant impact on morbidity and mortality. The SPP1 gene encodes the osteopontin (OPN) protein, which plays a crucial role in the regulation of inflammation and immunity. The variants rs1126616 and rs9138 of this gene have been associated with the inflammatory response. The study aims to analyze the association of the rs1126616 and rs9138 variants of the SPP1 gene in SLE Mexican-Mestizo patients without LN (SLE-LN). In this cross-sectional study, a total of 171 genomic DNA samples from SLE patients were clinically confirmed, of which 111 were SLE without LN, 60 were SLE with LN, and 100 healthy individuals were included as reference group. The rs1126616 variant was genotyped using PCR-RFLPs, and the rs9138 variant was genotyped using qPCR TaqMan. The TT genotype, the recessive model [OR 2.76 (95% CI 1.31–5.82), p = 0.011], and the T allele [OR 2.0 (95% CI 1.26–3.16), p = 0.003] of the rs1126616 variant are risk factors for SLE with LN. By contrast, the rs9138 variant did not show statistically significant differences among SLE patients stratified by LN. In our study of SLE Mexican-Mestizo patients with and without NL, demographic and clinical characteristics do not differ from other SLE populations, and the TT genotype of the rs1126616 variant of the SPP1 gene confers a risk factor for the presentation of LN. Otherwise, the rs9138 variant did not show association with NL.

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Association of polymorphic variants of PTPN22, TNF and VDR systems in children with lupus nephritis: a study in trios of Colombian families

Abstract: Iglesias: componente clínico del proyecto Guillermo López: interpretación de los resultados Todos los autores participaron por igual en el desarrollo y la elaboración del manuscrito. Asociación de variantes polimorfas de los genes

Cited by 7 publications

References 27 publications

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

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

Association of Vitamin D Metabolism Gene Polymorphisms with Autoimmunity: Evidence in Population Genetic Studies

Association of the rs1126616 and rs9138 Variants in the SPP1 Gene among Mexican Patients with Systemic Lupus Erythematosus and Lupus Nephritis

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