Association of Complement Receptor 2 Gene Polymorphisms with Susceptibility to Osteonecrosis of the Femoral Head in Systemic Lupus Erythematosus

Kim, Sang Woo; Bae, Sang‐Cheol; Lee, Sang‐Han; Kim, Shin‐Yoon; Baek, Seung‐Hoon

doi:10.1155/2016/9208035

Cited by 8 publications

(8 citation statements)

References 25 publications

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“…However, the genetic predispositions associated with ON susceptibility in SLE patients, including ancestry effects, have not yet been demonstrated. Polymorphism of T786C NOS3 in the promoter was associated with idiopathic ON 128 but not with ON in SLE patients, 123 suggesting the influence of different ethnic groups on genetic variation. Investigation of the prevalence of genetic risk factors associated with ON susceptibility in both the general population and in patients of varying ancestries, is a consideration for a future study.…”

Section: Risk Factors For the Development Of On In Patients With Slementioning

confidence: 95%

“…Kim et al have identified that Asp258Asp (exon 6: rs1549758) and Glu298Asp (exon 7: G895T: rs1799983) polymorphisms in the nitric oxide synthase 3 (NOS3) gene may be related to ON susceptibility in SLE patients under the recessive model. 123 A case-control study demonstrated that rs3813946 in the 5′-UTR, rs311306 in intron 1, and the rs17615 in exon 10 of the CR2 (complement receptor type 2, complement C3d Receptor 2) gene. 124 A recent study has also identified that SNPs for ON risk in SLE patients include NOS3 (exon 6: c.814G > A, p.E272K), Collagen Type II Alpha 1 Chain (COL2A1, c.3508G > A, rs41263847: exon 29: c.1913C > T: p.T638I, exon 28: c.1706C > T: p.T569I, and rs371445823: exon 8: c.580G > A: p.A194T, exon 7: c.373G > A: p.A125T), 125 and CR2 (rs45573035: exon 2: c.200C > G: p.T67S).…”

Section: Risk Factors For the Development Of On In Patients With Slementioning

confidence: 99%

“…Kim et al. have identified that Asp258Asp (exon 6: rs1549758) and Glu298Asp (exon 7: G895T: rs1799983) polymorphisms in the nitric oxide synthase 3 (NOS3) gene may be related to ON susceptibility in SLE patients under the recessive model 123 . A case‐control study demonstrated that rs3813946 in the 5′‐UTR, rs311306 in intron 1, and the rs17615 in exon 10 of the CR2 (complement receptor type 2, complement C3d Receptor 2) gene 124 .…”

Section: Risk Factors For the Development Of On In Patients With Slementioning

confidence: 99%

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Glucocorticoid‐induced osteonecrosis in systemic lupus erythematosus patients

Kaneko

Chen

Kaufman

et al. 2021

Clinical & Translational Med

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Osteonecrosis (ON) is a complex and multifactorial complication of systemic lupus erythematosus (SLE). ON is a devastating condition that causes severe pain and compromises the quality of life. The prevalence of ON in SLE patients is variable, ranging from 1.7% to 52%. However, the pathophysiology and risk factors for ON in patients with SLE have not yet been fully determined. Several mechanisms for SLE patients’ propensity to develop ON have been proposed. Glucocorticoid is a widely used therapeutic option for SLE patients and high‐dose glucocorticoid therapy in SLE patients is strongly associated with the development of ON. Although the hips and knees are the most commonly affected areas, it may be present at multiple anatomical locations. Clinically, ON often remains undetected until patients feel discomfort and pain at specific sites at which point the process of bone death is already advanced. However, strategies for prevention and options for treatment are limited. Here, we review the epidemiology, risk factors, diagnosis, and treatment options for glucocorticoid‐induced ON, with a specific focus on patients with SLE.

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Section: Risk Factors For the Development Of On In Patients With Slementioning

confidence: 95%

Section: Risk Factors For the Development Of On In Patients With Slementioning

confidence: 99%

Section: Risk Factors For the Development Of On In Patients With Slementioning

confidence: 99%

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Glucocorticoid‐induced osteonecrosis in systemic lupus erythematosus patients

Kaneko

Chen

Kaufman

et al. 2021

Clinical & Translational Med

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“…Recent studies have indicated that single nucleotide polymorphisms (SNPs) are associated with an increased risk of ONFH [ 19 – 22 ]. The polymorphisms of MMP8 have been investigated in many diseases.…”

Section: Introductionmentioning

confidence: 99%

MMP8polymorphism is associated with susceptibility to osteonecrosis of the femoral head in a Chinese Han population

Cao

et al. 2017

Oncotarget

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Osteonecrosis of the femoral head (ONFH) is an orthopedic refractory disease that adversely affects quality of life. Matrix metalloproteinase-8 (MMP-8) produced by the bone marrow has been implicated in the degradation of collagen during bone development. We assessed whether MMP8 polymorphisms are associated with ONFH. In a case-control study, using χ2 tests and genetic model analyses, we genotyped 5 MMP8 single-nucleotide polymorphisms (SNPs) in 585 ONFH patients and 507 healthy control subjects in a Chinese Han population. The MMP8 rs11225394 SNP was associated with an increased risk of ONFH in an allele model (OR=1.34; 95% CI, 1.003-1.786, P=0.047). In addition, rs11225394 was associated with an increased risk of ONFH in a dominant model (OR =1.39, 95% CI, 1.02–1.89, P=0.036), over-dominant model (OR=1.39, 95% CI, 1.02–1.89, P=0.038), and log-additive model (OR =1.36, 95% CI, 1.01–1.84, P=0.039). After adjusting for age and gender, rs11225394 was associated with ONFH in a dominant (OR =1.44, 95% CI, 1.05–1.96, P=0.023), over-dominant (OR =1.44, 95% CI, 1.05–1.98, P=0.022), and log-additive model (OR =1.40, 95% CI, 1.04–1.90, P=0.027). These results provide the first evidence that MMP8 SNP at the rs11225394 locus is associated with the increased risk of ONFH in Chinese Han population.

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“…10 A previous study demonstrated that CR2 could bind C3 degradation products during complement activation, 10 suggesting that CR2 might play an essential role in immunity. 11 Additional studies showed that polymorphisms of the CR2 gene were associated with osteonecrosis in SLE 12 and that polymorphisms such as rs3813946, rs1048971, and rs17615 were associated with lupus susceptibility in Caucasian and Chinese lupus patients. 13 Next-generation sequencing technologies have been widely used for sequencing exomes, transcriptomes, and genomes, 14 particularly in the mutant landscape of genetic diseases.…”

mentioning

confidence: 99%

Identification of a novel mutation in complement receptor 2 in Chinese familial systemic lupus erythematosus

Tang¹,

Luo²

2022

Arch Rheumatol

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Objectives: This study aims to analyze the relationship between complement receptor 2 (CR2) gene mutation and the clinical phenotype in Chinese familial systemic lupus erythematosus (SLE). Patients and methods: A total of one Chinese familial SLE patients (median age: 30.25 years; range, 22 to 49 years) were included between January 2017 and December 2018. The clinical features and diagnoses of familial SLE patients were analyzed using whole-exome sequencing (WES) of genomic deoxyribonucleic acid (DNA) samples. Sanger sequencing was used to verify candidate mutations detected in the examined family. Results: The mother and her three daughters were diagnosed with SLE. The clinical characteristics showed that the patient and her mother were diagnosed with lupus nephritis. The eldest daughter had decreased renal function and lower serum albumin levels. Immunological index analysis showed that all four patients were positive for anti-SSA and antinuclear antibody (ANA), but that only the second daughter was positive for anti-double-stranded DNA (dsDNA). Complement 3 (C3) was significantly decreased in all patients, while evaluation of the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) showed that the second and third daughters had mild active SLE. The mother and eldest daughter were treated with prednisolone combined with cyclophosphamide, while the other two daughters were treated with prednisolone alone. The WES and Sanger sequencing analyses revealed an unreported missense T>C mutation c.2804 in the 15th exon of the CR gene in all four patients. Conclusion: We identified a novel c.2804 (exon 15) T>C mutation in the CR gene of Chinese familial SLE. This mutation was previously reported, suggesting that the CR gene c.2804 (exon 15) T>C mutation is the probable cause of SLE in this family.

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Association of Complement Receptor 2 Gene Polymorphisms with Susceptibility to Osteonecrosis of the Femoral Head in Systemic Lupus Erythematosus

Cited by 8 publications

References 25 publications

Glucocorticoid‐induced osteonecrosis in systemic lupus erythematosus patients

Glucocorticoid‐induced osteonecrosis in systemic lupus erythematosus patients

MMP8polymorphism is associated with susceptibility to osteonecrosis of the femoral head in a Chinese Han population

Identification of a novel mutation in complement receptor 2 in Chinese familial systemic lupus erythematosus

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