Introduction Sjögren’s disease (SjD) is a chronic autoimmune disorder characterized by dry mouth (xerostomia) and dry eyes (xerophthalmia) due to inflammation in exocrine glands, particularly the salivary and lacrimal glands. The condition presents a wide variety of clinical features, suggesting that it may involve heterogeneous conditions without a clear boundary. Although genome-wide association studies (GWAS) have identified several genetic variants associated with SjD, their roles in SjD pathogenesis remain unclear. Methods In this study, we aimed to identify single-nucleotide polymorphisms (SNPs) associated with SjD by categorizing patients based on four diagnostic markers: anti-Ro/SSA and anti-La/SSB antibodies, IgG levels, and lymphocyte foci, using a genotype-phenotype dataset (NCBI dbGaP phs000672.v1.p1) which included 594 SjD patients, 1,264 sicca symptomatic individuals without SjD diagnosis (as a control group), and 41 healthy individuals (as another control group) . Results and Discussion We identified SNPs associated with each subtype of SjD, organized by two factors of diagnostic markers, X (anti-SSA and/or anti-SSB autoantibody) and Y (IgG or lymphocyte foci), with an adjusted p-value less than 5x10 -8 . The SjD subtypes were classified as follows: Group A (Factors X+ and Y+), Group B (X+ and Y-), Group C (X- and Y+), and Group D (X- and Y-). We found distinct SNPs associated with each group of SjD patients. This study can help advance the SjD subtype investigation, supporting precision diagnosis and treatment of SjD.
Enduru et al. (Mon,) studied this question.