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1.	Jakobsson, J., et al. (author) Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 2021 In: Autophagy. - : Informa UK Limited. - 1554-8635 .- 1554-8627. ; 17:1, s. 1-382 Journal article (peer-reviewed)
2.	Bronson, PG, et al. (author) SELECTIVE IMMUNOGLOBULIN A DEFICIENCY IS ASSOCIATED WITH IFIH1, PVT1, FAS, CDH13 AND KIF3 IN A GENOMEWIDE ASSOCIATION STUDY AND META-ANALYSIS 2012 In: TISSUE ANTIGENS. - 0001-2815. ; 79:6, s. 413-414 Conference paper (other academic/artistic)
3.	Lim, CK, et al. (author) STXBP6 and B3GNT6 Genes are Associated With Selective IgA Deficiency 2021 In: Frontiers in genetics. - : Frontiers Media SA. - 1664-8021. ; 12, s. 736235- Journal article (peer-reviewed)abstract Immunoglobulin A Deficiency (IgAD) is a polygenic primary immune deficiency, with a strong genetic association to the human leukocyte antigen (HLA) region. Previous genome-wide association studies (GWAS) have identified five non-HLA risk loci (IFIH1, PVT1, ATG13-AMBRA1, AHI1 and CLEC16A). In this study, we investigated the genetic interactions between different HLA susceptibility haplotypes and non-MHC genes in IgAD. To do this, we stratified IgAD subjects and healthy controls based on HLA haplotypes (N = 10,993), and then performed GWAS to identify novel genetic regions contributing to IgAD susceptibility. After replicating previously published HLA risk haplotypes, we compared individuals carrying at least one HLA risk allele (HLA-B08:01-DRB103:01-DQB102:01 or HLA-DRB107:01-DQB102:02 or HLA-DRB101-DQB1*05:01) with individuals lacking an HLA risk allele. Subsequently, we stratified subjects based on the susceptibility alleles/haplotypes and performed gene-based association analysis using 572,856 SNPs and 24,125 genes. A significant genome-wide association in STXBP6 (rs4097492; p = 7.63 × 10−9) was observed in the cohort carrying at least one MHC risk allele. We also identified a significant gene-based association for B3GNT6 (PGene = 2.1 × 10–6) in patients not carrying known HLA susceptibility alleles. Our findings indicate that the etiology of IgAD differs depending on the genetic background of HLA susceptibility haplotypes.

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Type of publication: journal article (2); conference paper (1)

Type of content: peer-reviewed (2); other academic/artistic (1)

Author/Editor: Liu, X (1); Chen, L (1); Alonso, A. (1); Chen, S. (1); Chen, X. (1); Chen, Y. (1); show more...; Donadelli, M. (1); Gupta, S. (1); Hu, D. (1); Jiang, Y. (1); Jin, S. (1); Kim, H. (1); Kono, T. (1); Li, B. (1); Li, S. (1); Li, Y. (1); Liu, Y. (1); Meyer, C. (1); Mohapatra, S. (1); Nakamura, K. (1); Nilsson, P. (1); Shimizu, S. (1); Takahashi, Y. (1); Wang, C. (1); Wang, F. (1); Wang, H. (1); Wang, J. (1); Wang, K. (1); Wu, M. (1); Xu, L. (1); Yamamoto, A. (1); Yan, Z. (1); Yang, H. (1); Yang, Y. (1); Yu, J. (1); Zhang, H. (1); Zhang, L. (1); Zhang, X. (1); Zhang, Z. (1); Zhou, B. (1); Zhu, H. (1); Liu, J. (1); Zhao, Y. (1); Lange, C. (1); Li, X. (1); Zhao, L. (1); Liu, C. (1); Liu, H. (1); Saito, T (1); Banerjee, S. (1); show less...

University: Karolinska Institutet (3); Umeå University (1); Stockholm University (1); Linköping University (1); Lund University (1); Swedish University of Agricultural Sciences (1)

Language: English (3)

Research subject (UKÄ/SCB): Natural sciences (1); Medical and Health Sciences (1)

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