Expressive

rs11229 - PRRC2A

Magnitude 4.5 · 2 studies on file

Reported associations

  • Phage display sequencing reveals that genetic, environmental, and intrinsic factors influence variation of human antibody epitope repertoire. - Immunity (2023) · Andreu-Sánchez S, Bourgonje AR, Vogl T, Kurilshikov A, Leviatan S, Ruiz-Moreno AJ, Hu S, Sinha T, Vich Vila A, Klompus S, Kalka IN, de Leeuw K, Arends S, Jonkers I, Withoff S, Brouwer E, Weinberger A, Wijmenga C, Segal E, Weersma RK, Fu J, Zhernakova A · PubMed 37164013

    Phage-displayed immunoprecipitation sequencing (PhIP-seq) has enabled high-throughput profiling of human antibody repertoires. However, a comprehensive overview of environmental and genetic determinants shaping human adaptive immunity is lacking. In this study, we investigated the effects of genetic, environmental, and intrinsic factors on the variation in human antibody repertoires. We characterized serological antibody repertoires against 344,000 peptides using PhIP-seq libraries from a wide range of microbial and environmental antigens in 1,443 participants from a population cohort. We detected individual-specificity, temporal consistency, and co-housing similarities in antibody repertoires. Genetic analyses showed the involvement of the HLA, IGHV, and FUT2 gene regions in antibody-bou

  • Whole Exome Sequencing Revealed Variants That Predict Pulmonary Artery Involvement in Patients with Takayasu Arteritis - Unknown journal (n.d.) · Unknown authors · PubMed 36046661

    ABSTRACT: Purpose To conduct the first whole exome sequencing (WES) on Takayasu arteritis (TAK) to identify common and rare variants responsible for disease susceptibility. Patients and Methods A total of 200 patients and 1675 healthy controls from China were recruited for this study. Site-based association analysis for common variants and gene-based burden analysis for rare variants were conducted. A weighted genetic risk score (wGRS) was calculated for each patient with TAK based on the independent risk alleles identified in the association analyses. The ability of the patient wGRS to discriminate between different phenotypes was evaluated. Results In the site-based analysis, the top association signal was CCHCR1 (rs1265067, p = 8.27 × 10−12, OR = 2.41), a proxy for HLA-B*52:01. HLA-D

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Lifestyle context

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

Discuss with your doctor

  • Takayasu arteritis screening and risk assessment Moderate

    PRRC2A rs11229 G allele shows strong association (OR=2.56, p=8.26e-11) with Takayasu arteritis, a large-vessel vasculitis affecting the aorta and major arteries.

    Discuss TAK screening, especially for symptoms (fatigue, fever, chest pain, reduced pulses) if under 40 and female.

Screening

  • Cardiovascular imaging for large vessel vasculitis Moderate

    TAK causes arterial wall thickening, stenosis, and progressive occlusion. Early detection improves outcomes.

    Consider imaging of aorta and major branches if symptoms develop or high genetic risk burden.

  • Monitor for pulmonary arterial involvement symptoms Moderate

    Genetic risk burden (including rs11229) predicts pulmonary artery involvement in TAK, which carries high mortality risk if undetected.

    Report shortness of breath, chest pain, syncope, or reduced leg pulses to healthcare provider immediately.