Genome-Wide Association Study in Systemic Sclerosis
Biomarkers (7)
- ana - Anti Nuclear Antibody (phv00161563.v1.p1)
- la - Anti-Sjögren's syndrome B (Anti-SSB) (LA) (phv00161572.v1.p1)
- lv_crei - Serum creatinine level normal or abnormal (phv00161581.v1.p1)
- rnp - Anti-Ribonucleic Protein (RNP) (phv00161571.v1.p1)
- ro - Anti-Sjögren's syndrome A (Anti-SSA) (Ro) (phv00161573.v1.p1)
- sm - Anti Smith (anti SM) (phv00161570.v1.p1)
- topo - Anti -Topoisomerase( SCL 70) (phv00161575.v1.p1)
Demographics (18)
- bdage - Age at the time the whole blood sample was drawn (phv00161586.v1.p1)
- ct_ifed - Age of subject at the time of the chest CAT-scan report (phv00161615.v1.p1)
- dis_diagag - Age at physician's diagnosis (phv00161592.v1.p1)
- ec_hcedd - Age at Right Heart Catheterization test date (phv00161632.v1.p1)
- ec_lveed - Age when LV ejection fraction <45 noted (phv00161627.v1.p1)
- ec_phed - Age of subject at the time Pulmonary Hypertension was noted (phv00161622.v1.p1)
- ec_pheed - Age when Pericardial Effusion noted (phv00161629.v1.p1)
- gender - Subject's gender (phv00161583.v1.p1)
- hct_gged - Age of subject at the time of the report (phv00161617.v1.p1)
- hct_ifed - Age of subject at the time of the HRCT report (phv00161619.v1.p1)
- hr_srco - Age of the subject at the time of onset of SRC (phv00161580.v1.p1)
- nronsetage - Age of subject at the onset of first non-Raynaud's symptom (phv00161594.v1.p1)
- pf1_date - Age at Pulmonary Function test 1 (phv00161633.v1.p1)
- pf2_date - Age at Pulmonary Function test 2 (phv00161638.v1.p1)
- pf3_date - Age at Pulmonary Function test 3 (phv00161643.v1.p1)
- pf4_date - Age at Pulmonary Function test 4 (phv00161648.v1.p1)
- rayonset - Age of subject at the onset of Raynaud's phenomenon (phv00161593.v1.p1)
- xc_ifed - Age of subject at the time of the chest X-ray report (phv00161613.v1.p1)
Race and Ethnicity (2)
- ethnic - Identifies ethnic classifications (phv00161584.v1.p1)
- rcode - Represents racial background of the subject (phv00161585.v1.p1)
Respiratory (16)
- pf1_dlcp - PFT1 Diffusion Lung Capacity % predicted (phv00161635.v1.p1)
- pf1_fevp - PFT1 FEV1/FVC % predicted (phv00161636.v1.p1)
- pf1_fvcp - PFT1 Pulmonary Function FVC % predicted (phv00161634.v1.p1)
- pf1_tlcp - PFT1 Total lung volumes % predicted (phv00161637.v1.p1)
- pf2_dlcp - PFT2 Diffusion Lung Capacity % predicted (phv00161640.v1.p1)
- pf2_fevp - PFT2 FEV1/FVC % predicted (phv00161641.v1.p1)
- pf2_fvcp - PFT2 Pulmonary Function FVC % predicted (phv00161639.v1.p1)
- pf2_tlcp - PFT2 Total lung volumes % predicted (phv00161642.v1.p1)
- pf3_dlcp - PFT3 Diffusion Lung Capacity % predicted (phv00161645.v1.p1)
- pf3_fevp - PFT3 FEV1/FVC % predicted (phv00161646.v1.p1)
- pf3_fvcp - PFT3 Pulmonary Function FVC % predicted (phv00161644.v1.p1)
- pf3_tlcp - PFT3 Total lung volumes % predicted (phv00161647.v1.p1)
- pf4_dlcp - PFT4 Diffusion Lung Capacity % predicted (phv00161650.v1.p1)
- pf4_fevp - PFT4 FEV1/FVC % predicted (phv00161651.v1.p1)
- pf4_fvcp - PFT4 Pulmonary Function FVC % predicted (phv00161649.v1.p1)
- pf4_tlcp - PFT4 Total lung volumes % predicted (phv00161652.v1.p1)
Other (59)
- acr - Indicates whether the case fulfills the 1980 preliminary criteria for SSc with: no= does not meet criteria, 1= meets the major criterion, 2= meets at least 2 of 3 minor criteria This can be positive if the major or at least 2 of the minor criteria are present (phv00161590.v1.p1)
- AFFECTION_STATUS - Affection status (phv00161559.v1.p1)
- ANALYTE_TYPE - DNA (phv00161655.v2.p1)
- BODY_SITE - Sample source: Peripheral whole blood or serum (phv00161654.v2.p1)
- bros_full - Number of brothers related to subject with the same mother and father (phv00161602.v1.p1)
- bros_half - Number of half brothers related to subject with one mother or father in common (phv00161604.v1.p1)
- centromere - ANA Pattern - centromere (phv00161565.v1.p1)
- child_tota - Total number of children (live births) of female subject (phv00161606.v1.p1)
- CONSENT - Consent type (phv00161556.v1.p1)
- crest - Number of CREST features documented in medical record (phv00161591.v1.p1)
- ct_ifi - Evidence of interstitial fibrosis on chest CAT-scan (phv00161614.v1.p1)
- ec_hci - Right Heart Catheterization (phv00161631.v1.p1)
- ec_lvei - LV Ejection Fraction (<45) (phv00161626.v1.p1)
- ec_normal - Echocardiogram - normal (phv00161620.v1.p1)
- ec_pei - Pericardial effusion (phv00161628.v1.p1)
- ec_phdi - Pulmonary Hypertension - moderate (Systolic PAP 50-60) (phv00161624.v1.p1)
- ec_phi - Pulmonary hypertension (phv00161621.v1.p1)
- ec_phmi - Pulmonary Hypertension - mild (Systolic PAP 40-50) (phv00161623.v1.p1)
- ec_phsi - Pulmonary Hypertension - severe (Systolic PAP >61) (phv00161625.v1.p1)
- ec_vdi - Valvular disease (phv00161630.v1.p1)
- hc_pahi - Diagnosis of Pulmonary Arterial Hypertension (phv00161611.v1.p1)
- hct_ggai - Evidence of ground glass on HRCT-scan (phv00161616.v1.p1)
- hct_ifi - Evidence of fibrosis on HRCT-scan (phv00161618.v1.p1)
- hgi_bcdi - Diagnosis of Primary Biliary Cirrhosis (phv00161578.v1.p1)
- homogenous - ANA Pattern - homogeneous (phv00161567.v1.p1)
- hp_ildi - Chart Diagnosis of Interstitial or Restrictive lung disease (phv00161610.v1.p1)
- hr_srci - Diagnosis of Scleroderma Renal Crisis (SRC) as specifically designated in the medical record (phv00161579.v1.p1)
- juve_onset - At time of disease onset less than 16 years old (phv00161587.v1.p1)
- mito - ANA Pattern - Anti Mitochondrial (M2) antibody (phv00161574.v1.p1)
- mult_birth - Number of multiple births in a pregnancy (phv00161597.v1.p1)
- nucleolar - ANA Pattern - nucleolar (phv00161566.v1.p1)
- peripheral - ANA Pattern - peripheral (phv00161569.v1.p1)
- preg_termi - Number of pregnancy terminations (phv00161598.v1.p1)
- qty_births - Number of live births of female subject (phv00161596.v1.p1)
- qty_boys - Number of sons (live births) of female subjects (phv00161607.v1.p1)
- qty_girls - Number of daughters (live births) of female subjects (phv00161608.v1.p1)
- qty_lost - Number of miscarriages (phv00161599.v1.p1)
- rna_ind - RNA polymerase III (phv00161576.v1.p1)
- sampid - Sample id (phv00161562.v1.p1)
- sampid - Sample ID (phv00161561.v1.p1)
- sampid - Sample ID (phv00161653.v1.p1)
- SAMPLE_USE - Sample Use (phv00395447.v1.p1)
- sis_full_q - Number of sisters related to subject with the same mother and father (phv00161603.v1.p1)
- sis_half_q - Number of half sisters related to subject with one mother or father in common (phv00161605.v1.p1)
- SOURCE_SUBJID - Subject id at source (phv00161558.v1.p1)
- speckled - ANA Pattern - speckled (phv00161568.v1.p1)
- ssctype - Identifies the type of scleroderma as 'limited' or 'diffuse' or 'sine' or 'unknown' (phv00161589.v1.p1)
- status_ver - Verifies if the case meets criteria for the diagnosis of scleroderma and medical records reviewed by the PI (phv00161588.v1.p1)
- stillborn - Number of stillborns of female subjects (phv00161600.v1.p1)
- SUBJ_SOURCE - Source of subject (phv00161557.v1.p1)
- subjid - Subject ID (phv00161609.v1.p1)
- subjid - Subject ID (phv00161582.v1.p1)
- subjid - Subject ID (phv00161555.v1.p1)
- subjid - Subject ID (phv00161577.v1.p1)
- subjid - Subject ID (phv00161560.v1.p1)
- times_preg - Number of pregnancies of female subject (phv00161595.v1.p1)
- titer - Anti Nuclear Antibody titer (phv00161564.v1.p1)
- tubal - Number of tubal pregnancies of female subjects (phv00161601.v1.p1)
- xc_ifi - Evidence of interstitial fibrosis on chest X-ray (phv00161612.v1.p1)