rs1150755 - TNXB

Magnitude 2.8 · 4 studies on file

Reported associations

  • Sex-Dimorphic Analyses Identify Novel and Sex-Specific Genetic Associations in Inflammatory Bowel Disease. - Inflammatory bowel diseases (2023) · Khrom M, Li D, Naito T, Lee HS, Botwin GJ, Potdar AA, Boucher G, Yang S, Mengesha E, Dube S, Song K, McGovern DPB, Haritunians T · PubMed 37262302

    Sex is an integral variable often overlooked in complex disease genetics. Differences between sexes have been reported in natural history, disease complications, and age of onset in inflammatory bowel disease (IBD). While association studies have identified >230 IBD loci, there have been a limited number of studies investigating sex differences underlying these genetic associations. We report the first investigation of sex-dimorphic associations via meta-analysis of a sex-stratified association study (34 579 IBD cases, 39 125 controls). In addition, we performed chromosome (chr) X-specific analyses, considering models of X inactivation (XCI) and XCI escape. Demographic and clinical characteristics were also compared between sexes. We identified significant differences between sexes for dis

  • Transancestral mapping and genetic load in systemic lupus erythematosus - Unknown journal (n.d.) · Unknown authors · PubMed 28714469

    ABSTRACT: Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58 distinct non-HLA regions in EA, 9 in AA and 16 in HA (∼50% of these regions have multiple independent associations); these include 24 novel SLE regions (P<5 × 10−8), refined association signals in established regions, extended associations to additional ancestries, and a disentangled complex HLA multigenic effect. The risk allele count (genetic load) exhibits an accelerating pattern of SLE risk, leading us to posit a cumulative hit hypothesis for autoimmune disease. Comparing res

  • Genome-wide association meta-analysis identifies two novel loci associated with dental caries - Unknown journal (n.d.) · Unknown authors · PubMed 39192244

    ABSTRACT: Background Tooth loss significantly impacts oral function and overall health deterioration. Dental caries and periodontal disease are major contributors to tooth loss, emphasizing the critical need to prevent these conditions. Genetic studies have played a crucial role in deepening our understanding of the underlying mechanisms of these diseases. While large-scale genome-wide association studies (GWAS) on dental caries and periodontal disease have been conducted extensively, research focusing on Asian populations remains limited. Given substantial genetic and lifestyle variations across ethnicities, conducting studies across diverse populations is imperative. This study aimed to uncover new insights into the genetic mechanisms of these diseases, contributing to broader knowledge

  • Identifying shared genetic loci and common risk genes of rheumatoid arthritis associated with three autoimmune diseases based on large-scale cross-trait genome-wide association studies - Unknown journal (n.d.) · Unknown authors · PubMed 37377963

    ABSTRACT: Introduction Substantial links between autoimmune diseases have been shown by an increasing number of studies, and one hypothesis for this comorbidity is that there is a common genetic cause. Methods In this paper, a large-scale cross-trait Genome-wide Association Studies (GWAS) was conducted to investigate the genetic overlap among rheumatoid arthritis, multiple sclerosis, inflammatory bowel disease and type 1 diabetes. Results and discussion Through the local genetic correlation analysis, 2 regions with locally significant genetic associations between rheumatoid arthritis and multiple sclerosis, and 4 regions with locally significant genetic associations between rheumatoid arthritis and type 1 diabetes were discovered. By cross-trait meta-analysis, 58 independent loci associate


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Bloodwork

  • baseline SLE serology including ANA and anti-dsDNA High

    genetic predisposition enables early detection of asymptomatic SLE before clinical manifestations develop

    order ANA, anti-dsDNA, C3, C4 complement levels as baseline assessment

Discuss with your doctor

  • SLE genetic risk and baseline assessment strategy High

    rs1150755 in TNXB confers 33% increased SLE risk (OR=1.33, p=3.10e-8) with consistent effect across ancestries; independent effect after HLA adjustment

    arrange rheumatology or genetics consultation to review results and plan SLE monitoring

Screening

  • SLE and rheumatoid arthritis symptom development High

    rs1150755 increases risk for both SLE and RA through immune dysregulation; early symptom recognition improves treatment outcomes

    promptly report photosensitivity, joint pain, rashes, oral ulcers, or systemic symptoms to healthcare provider