1. Contribution of ancient human remains analysis to the understanding of the variability in HLA-B gene variants in relation to the diagnosis of spondyloarthropathies.
- Author
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Laza IM, Ventades NG, Hervella M, and de-la-Rúa C
- Subjects
- Alleles, Arthritis, Rheumatoid genetics, Arthritis, Rheumatoid immunology, Arthritis, Rheumatoid pathology, Body Remains, Bone and Bones immunology, Bone and Bones pathology, Climate, Cold Temperature, DNA, Ancient analysis, Diagnosis, Differential, Female, Genetic Predisposition to Disease, HLA-B27 Antigen immunology, HLA-B35 Antigen immunology, HLA-B40 Antigen immunology, History, Medieval, Humans, Joints immunology, Joints pathology, Male, Osteoarthritis genetics, Osteoarthritis immunology, Osteoarthritis pathology, Paleopathology methods, Spain, Spondylarthropathies genetics, Spondylarthropathies immunology, Spondylarthropathies pathology, Arthritis, Rheumatoid diagnosis, HLA-B27 Antigen genetics, HLA-B35 Antigen genetics, HLA-B40 Antigen genetics, Osteoarthritis diagnosis, Polymorphism, Genetic, Spondylarthropathies diagnosis
- Abstract
Genetic investigations on ancient human remains affected by rheumatological pathologies are a research field of particular interest for identifying the pathogenesis of diseases, especially those having an autoimmune background such as spondyloarthopaties (SpA). Reliable studies concerning this topic require collaboration between multiple disciplines, usually starting from paleopathologic observations up to molecular genetic screening. Here, we focused our investigation in a medieval necropolis in the Basque Country (13th-15th century, N = 163), which presents a high frequency of joint pathologies through two approaches: on the one hand, the analysis of joint manifestations for the differential diagnosis of the SpA and, on the other hand, the determination of the alleles of the HLA-B gene. The morphological analysis allowed determining that 30% of the individuals had rheumatic bone manifestations, with SpA being the most frequent (45%). The genetic analysis of individuals with and without pathologies, based on the study of the HLA-B gene, allowed finding 17 alleles for this gene, with HLA-B40, HLA-B27 and HLA-B35 being the most frequent. Although these alleles have been traditionally described as genetic markers associated to the development of SpA, in this study they were also found in individuals with other rheumatic diseases (osteoarthritis and rheumatoid arthritis) and even in individuals without pathologies. These data confirm the complexity of the relationship of the HLA-B gene variants with SpA, since it is not possible to establish a diagnosis of SpA with these variants alone. However, we suggest that allele HLA-B40, in combination with some specific rheumatic bone manifestations, facilitates the diagnosis of SpA., (Copyright © 2018 Elsevier Ltd. All rights reserved.)
- Published
- 2018
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