rs2239803
This variant is located in the HLA-DRA gene.
▶Research that mentions this SNP (1)
▶Efficient Generalized Least Squares Method for Mixed Population and Family-based Samples in Genome-wide Association StudiesMethodsN=1,877Jia Li et al.(2014)· Genetic Epidemiology
This paper presents a novel Generalized Least Squares (GLX) method for genome-wide association studies of mixed population and family-based samples with the ability to test SNP-by-environment (G×E) interactions. Applied to a sarcoidosis study of 1,877 African Americans, the method identified two significant SNP-by-insecticide interactions in the FUT9 gene: rs10499003 (intronic, OR=2.06, 95% CI: 1.88-2.25 with insecticide exposure) and rs7745248 (3'UTR). GLX demonstrated superior power and computational efficiency compared to existing methods (GEE, EMMAX, WQLS, MQLS) while properly controlling Type I error across diverse pedigree structures.
About HLA-DRA
HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. This molecule is expressed on the surface of various antigen presenting cells such as B lymphocytes, dendritic cells, and monocytes/macrophages, and plays a central role in the immune system and response by presenting peptides derived from extracellular proteins, in particular, pathogen-derived peptides to T cells. The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. [provided by RefSeq, Aug 2020]
View all HLA-DRA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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