The Lupus Family Registry and Repository

Rasmussen, Astrid; Sevier, Sydney T.; Kelly, Jennifer A.; Glenn, Stuart B.; Aberle, Teresa; Cooney, Carisa M.; Grether, Anya; James, Ellen; Ning, Jared; Tesiram, Joanne; Morrisey, Jean; Powe, Tiny; Drexel, Mark; Daniel, William W.; Namjou, Bahram; Ojwang, Joshua O.; Nguyen, Kim‐Lien; Cavett, J. W.; Te, Jeannie L.; James, Judith A.; Scofield, R. Hal; Moser, Kathy L.; Gilkeson, Gary S.; Kamen, Diane L.; Carson, Craig W.; Quintero-Del-Rio, Ana I.; Ballesteros, Maria; Punaro, Marilynn; Karp, David R.; Wallace, Daniel J.; Weisman, Michael H.; Merrill, Joan T.; Rivera, Roberto; Petri, Michelle; Albert, Daniel A.; Espinoza, Luis R.; Utset, Tammy O.; Shaver, Timothy S.; Arthur, Eugene; Anaya, Juan Manuel; Bruner, Gail R.; Harley, John B.

doi:10.1093/rheumatology/keq302

Cited by 79 publications

(94 citation statements)

References 62 publications

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“…De-identified plasma samples and patient data were obtained from the Lupus Family Registry and Repository (LFRR) [34]. Plasma samples for 300 patients meeting the revised criteria of the American College of Rheumatology for SLE [35] and 300 healthy controls matched demographically by sex, ethnicity and age were received and kept at −80 °C until thawed for DSC analysis.…”

Section: Methodsmentioning

confidence: 99%

Differential scanning calorimetry as a complementary diagnostic tool for the evaluation of biological samples

Garbett

Brock

2016

Biochimica et Biophysica Acta (BBA) - General Subjects

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Background Differential scanning calorimetry (DSC) is a tool for measuring the thermal stability profiles of complex molecular interactions in biological fluids. DSC profiles (thermograms) of biofluids provide specific signatures which are being utilized as a new diagnostic approach for characterizing disease but the development of these approaches is still in its infancy. Methods This article evaluates several approaches for the analysis of thermograms which could increase the utility of DSC for clinical application. Thermograms were analyzed using localized thermogram features and principal components (PCs). The performance of these methods was evaluated alongside six models for the classification of a data set comprised of 300 systemic lupus erythematosus (SLE) patients and 300 control subjects obtained from the Lupus Family Registry and Repository (LFRR). Results Classification performance was substantially higher using the penalized algorithms relative to localized features / PCs alone. The models were grouped into two sets, the first having smoother solution vectors but lower classification accuracies than the second with seemingly noisier solution vectors. Conclusions Coupling thermogram technology with modern classification algorithms provides a powerful diagnostic approach for analysis of biological samples. The solution vectors from the models may reflect important information from the thermogram profiles for discriminating between clinical groups. General significance DSC thermograms show sensitivity to changes in the bulk plasma proteome that correlate with clinical status. To move this technology towards clinical application the development of new approaches is needed to extract discriminatory parameters from DSC profiles for the comparison and diagnostic classification of patients.

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Section: Methodsmentioning

confidence: 99%

Differential scanning calorimetry as a complementary diagnostic tool for the evaluation of biological samples

Garbett

Brock

2016

Biochimica et Biophysica Acta (BBA) - General Subjects

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“…Study participants were previously enrolled to the Lupus Family Registry and Repository (LFRR) 5 and provided written informed consent, detailed clinical questionnaire information, connective tissue disease screening questionnaire responses, 6 demographic information, blood samples and medical records, which were reviewed for ACR 1 and SLICC 3 criteria and for medication history (see online supplementary methods, supplementary figure 1).…”

Section: Study Subjectsmentioning

confidence: 99%

Use of SLICC criteria in a large, diverse lupus registry enables SLE classification of a subset of ACR-designated subjects with incomplete lupus

et al. 2017

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ObjectiveSLE is traditionally classified using the American College of Rheumatology (ACR) criteria. The Systemic Lupus International Collaborating Clinics (SLICC) recently validated an alternative system. This study examined large cohorts of subjects with SLE and incomplete lupus erythematosus (ILE) to compare the impact of ACR and SLICC criteria.MethodsMedical records of subjects in the Lupus Family Registry and Repository were reviewed for documentation of 1997 ACR classification criteria, SLICC classification criteria and medication usage. Autoantibodies were assessed by indirect immunofluorescence (ANA, antidouble-stranded DNA), precipitin (Sm) and ELISA (anticardiolipin). Other relevant autoantibodies were detected by precipitin and with a bead-based multiplex assay.ResultsOf 3575 subjects classified with SLE under at least one system, 3312 (92.6%) were classified as SLE by both systems (SLEboth), 85 only by ACR criteria (SLEACR-only) and 178 only by SLICC criteria (SLESLICC-only). Of 440 subjects meeting 3 ACR criteria, 33.9% (149/440) were SLESLICC-only, while 66.1% (n=291, designated ILE) did not meet the SLICC classification criteria. Under the SLICC system, the complement criterion and the individual autoantibody criteria enabled SLE classification of SLESLICC-only subjects, while SLEACR-only subjects failed to meet SLICC classification due to the combined acute/subacute cutaneous criterion. The SLICC criteria classified more African-American subjects by the leucopenia/lymphopenia criterion than did ACR criteria. Compared with SLEACR-only subjects, SLESLICC-only subjects exhibited similar numbers of affected organ systems, rates of major organ system involvement (∼30%: pulmonary, cardiovascular, renal, neurological) and medication history.ConclusionsThe SLICC criteria classify more subjects with SLE than ACR criteria; however, individuals with incomplete lupus still exist under SLICC criteria. Subjects who gain SLE classification through SLICC criteria exhibit heterogeneous disease, including potential major organ involvement. These results provide supportive evidence that SLICC criteria may be more inclusive of SLE subjects for clinical studies.

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“…Study participants were enrolled in the Lupus Family Registry and Repository (LFRR) 46 or Systemic Lupus Erythematosus in Gullah Health (SLEIGH) 47 studies and provided informed consent prior to enrolment. Letters were sent to individuals who reported having a relative with SLE and who did not meet ≥4 American College of Rheumatology (ACR) 45 criteria for SLE at the time of their LFRR or SLEIGH baseline visit.…”

Section: Study Populationmentioning

confidence: 99%

“…Detailed demographic, environmental, clinical and therapeutic data were collected by questionnaire 46 and participants completed the SLE portion of the Connective Tissue Disease Screening Questionnaire. 48 Body mass index (BMI) was calculated as reported weight (kg)/height (m 2 ).…”

Section: Study Populationmentioning

confidence: 99%

Combined role of vitamin D status and CYP24A1 in the transition to systemic lupus erythematosus

et al. 2016

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Objective We examined whether measures of vitamin D were associated with transitioning to systemic lupus erythematosus (SLE) in individuals at risk for SLE. Methods 436 individuals who reported having a relative with SLE but who did not have SLE themselves were evaluated at baseline and again an average of 6.3 (± 3.9) years later. Fifty-six individuals transitioned to SLE (≥4 cumulative ACR criteria). 25-hydroxyvitamin D (25[OH]D) levels were measured by ELISA. Six single nucleotide polymorphisms (SNPs) in four vitamin D genes were genotyped. Generalized estimating equations, adjusting for correlation within families, were used to test associations between the vitamin D variables and the outcome of transitioning to SLE. Results Mean baseline 25[OH]D levels (p=0.42) and vitamin D supplementation (p=0.65) were not different between those who did and did not transition to SLE. Vitamin D deficiency (25[OH]D <20 ng/ml) was greater in those who transitioned compared to those who did not transition to SLE (46% versus 33%, p=0.05). The association between 25[OH]D and SLE was modified by CYP24A1 rs4809959, where for each additional minor allele, increased 25[OH]D was associated with decreased SLE risk: 0 minor alleles (adjusted OR:1.03, CI:0.98,1.09), 1 minor allele (adjusted OR:1.01, CI:0.97,1.05), 2 minor alleles (adjusted OR:0.91, CI:0.84,0.98). Similarly, vitamin D deficiency significantly increased the risk of transitioning to SLE in those with two minor alleles at rs4809959 (adjusted OR:4.90, CI: 1.33,18.04). Conclusions Vitamin D status and CYP24A1 may have a combined role in the transition to SLE in individuals at increased genetic risk for SLE.

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The Lupus Family Registry and Repository

Cited by 79 publications

References 62 publications

Differential scanning calorimetry as a complementary diagnostic tool for the evaluation of biological samples

Differential scanning calorimetry as a complementary diagnostic tool for the evaluation of biological samples

Use of SLICC criteria in a large, diverse lupus registry enables SLE classification of a subset of ACR-designated subjects with incomplete lupus

Combined role of vitamin D status and CYP24A1 in the transition to systemic lupus erythematosus

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