Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Feb;50(1):12-18.
doi: 10.1111/iji.12609. Epub 2022 Dec 21.

Association of class II HLA alleles with susceptibility to develop immune-mediated diseases in Paraguayan patients

Isabel Acosta-Colman  1 , Sonia Cabrera-Villalba  1 , Ana Ayala-Lugo  2 , Valerie Jolly  2 , Marcos Vazquez  1 , Zoilo Morel  1 , Patricia Langjahr  3 , Margarita Duarte  1 , Ruth Zarate  4 , Maria Eugenia Acosta  2 , Gabriela Avila-Pedretti  1 , Antonio Julià  5 , María Teresa Martinez  4 , Sara Marsal  5
Affiliations

Association of class II HLA alleles with susceptibility to develop immune-mediated diseases in Paraguayan patients

Isabel Acosta-Colman et al. Int J Immunogenet. 2023 Feb.

Abstract

Genetic and nongenetic factors are involved in the pathogenesis of immune-mediated inflammatory diseases (IMIDs). The best-known genetic factor for susceptibility to IMIDs is the human leukocyte antigen (HLA). The aim of the present study was to evaluate the association of HLA class II genes with the risk of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and systemic sclerosis (SSc) in the Paraguayan population. We included 254 patients with IMIDs (101 SLE, 103 RA, and 50 SSc) and 50 healthy controls. The haplotypes of five genes corresponding to HLA class II genes and their relationship to the IMIDs studied were determined. Note that 84.6% were women, with a mean age of 43.4 ± 14 years. Among the associated HLA alleles, we found the previously identified risk factors in other populations like HLA-DRB1*03:01 and HLA-DRB1*14:02 for RA, as well as new ones not previously identified, such as DPA1*02:01 for SLE and, DB1*02:01 for RA and SSc. In the genetic association analysis, already known associations have been replicated, and unpublished associations have been identified in Paraguayan patients with IMIDs. This is the first genetic association study in Paraguayan patients with IMIDs.

Keywords: human leukocyte antigen (HLA); major histocompatibility complex (MHC); paraguayans; rheumatoid arthritis; systemic lupus erythematosus; systemic sclerosis.

PubMed Disclaimer

References

REFERENCES

    1. Achour, Y., Ben Hamad, M., Chaabane, S., Rebai, A., Marzouk, S., Mahfoudh, N., Bahloul, Z., Keskes, L., & Maalej, A. (2017). Analysis of two susceptibility SNPs in HLA region and evidence of interaction between rs6457617 in HLA-DQB1 and HLA-DRB1*04 locus on Tunisian rheumatoid arthritis. Journal of Genetics, 96(6), 911-918. https://doi.org/10.1007/s12041-017-0855-y
    1. Agarwal, S. K., & Reveille, J. D. (2010). The genetics of scleroderma (systemic sclerosis). Current Opinion in Rheumatology, 22(2), 133-138. https://doi.org/10.1097/BOR.0b013e3283367c17
    1. Alarcón-Riquelme, M. E., Ziegler, J. T., Molineros, J., Howard, T. D., Moreno-Estrada, A., Sánchez-Rodríguez, E., Ainsworth, H. C., Ortiz-Tello, P., Comeau, M. E., Rasmussen, A., Kelly, J. A., Adler, A., Acevedo-VáZquez, E. M., Mariano Cucho-Venegas, J., García­A-De La Torre, I., Cardiel, M. H., Miranda, P., Catoggio, L. J., & … Jacob, C. O. (2016). Genome-wide association study in an Amerindian ancestry population reveals novel systemic lupus erythematosus risk loci and the role of European admixture. Arthritis & Rheumatology, 68(4), 932-943. https://doi.org/10.1002/art.39504
    1. Aletaha, D., Neogi, T., Silman, A. J., Funovits, J., Felson, D. T., Bingham, C. O. 3rd, Birnbaum, N. S., Burmester, G. R., Bykerk, V. P., Cohen, M. D., Combe, B., Costenbader, K. H., Dougados, M., Emery, P., Ferraccioli, G., Hazes, J. M. W., Hobbs, K., Huizinga, T. W. J., Kavanaugh, A., & … Hawker, G. (2010). 2010 Rheumatoid arthritis classification criteria: An American College of Rheumatology/European League Against Rheumatism collaborative initiative. Arthritis and Rheumatism, 62(9), 2569-2581. https://doi.org/10.1002/art.27584
    1. Anukul, N., Pathanapitoon, K., Leetrakool, N., Guntiya, T., Wita, R., Palacajornsuk, P., & Klangsinsirikul, P. (2021). HLA-DRB1*04:05 and HLA-DQB1*04:01: Alleles potentially associated with Vogt-Koyanagi-Harada in northern Thai patients. Ocular Immunology and Inflammation, 29(2), 260-263. https://doi.org/10.1080/09273948.2020.1813315