rs3129878
This is a regulatory region variant variant in the HLA-DRA gene.
▶Research that mentions this SNP (1)
▶HLA-DPB1*04:01 allele is associated with non-obstructive azoospermia in Japanese patientsAssociationN=1,402Timothy A. Jinam et al.(2013)· Human Genetics
This case-control study of 355 Japanese non-obstructive azoospermia (NOA) patients and 1,047 controls identified HLA-DPB1*04:01 as independently associated with NOA (P_c = 7.13×10⁻⁶, OR 2.52). Additionally, HLA-DRB1*13:02 (P_c = 4.93×10⁻⁴, OR 1.97), HLA-DQB1*06:04 (P_c = 8.94×10⁻⁴, OR 1.91), and rs3129878 (p = 3.98×10⁻⁴, OR 1.32) showed significant associations, but conditional logistic regression demonstrated that DPB1*04:01 is the primary independent risk factor, with other associations explained by linkage disequilibrium.
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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