Supplementary file 1_Genetic variants associated with Sjögren’s disease subtypes stratifie

594 Sjögren’s disease patients, 1,264 symptomatic controls, and 41 healthy controls were analyzed to identify single-nucleotide polymorphisms (SNPs) associated with disease subtypes. The dataset, authored by Nitesh Enduru and last updated in May 2026, stratifies patients by four diagnostic markers: anti-Ro/SSA and anti-La/SSB antibodies, IgG levels, and lymphocyte foci. It reports SNPs with an adjusted p-value less than 5x10^-8 for groups defined by autoantibody and clinical factor status.

Use Cases

• Identify genetic risk factors for Sjögren’s disease based on autoantibody status (anti-SSA/SSB).
• Investigate genotype-phenotype correlations based on clinical markers like IgG levels and lymphocyte foci.
• Train models for precision diagnosis by associating genetic variants with specific clinical subtypes.
• Perform meta-analysis of autoimmune disease genetics using the reported SNP associations.

Strengths

• Dataset includes 594 Sjögren’s disease patients and 1,305 total controls, providing a substantial cohort for analysis.
• Findings are based on a genotype-phenotype dataset from NCBI dbGaP (phs000672.v1.p1), suggesting a reputable source.
• Results are reported with a stringent genome-wide significance threshold (adjusted p-value < 5x10^-8).

Limitations

• Column-level documentation is absent; field semantics must be inferred after download.
• Row count for the genetic association results is unknown, which may limit suitability assessment.
• The data is presented in a 3.3 MB PDF, which may require extraction to be used computationally.

Provenance

Source

NCBI dbGaP phs000672.v1.p1

Collection Method

Genome-wide association study (GWAS) categorizing patients by diagnostic markers.

Freshness

Last updated 2026-05-04 05:32:54; freshness should be verified.