ArticleHuman genetics2013
HLA-DPB1*04:01 allele is associated with non-obstructive azoospermia in Japanese patients.
Article in Human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 15 citations in OpenAlex.
- Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.Reproductive biology and endocrinology : RB&E · 2025Review
- Associations between HLA class II alleles and IgE sensitization to allergens in the Qatar Biobank cohort.The journal of allergy and clinical immunology. Global · 2023Article
- Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic.Journal of clinical medicine · 2020Review
- Anti-neutrophil Cytoplasmic Antibodies (ANCA) as Disease Activity Biomarkers in a "Personalized Medicine Approach" in ANCA-Associated Vasculitis.Current rheumatology reports · 2019Review
- Semen quality is affected by HLA class I alleles together with sexually transmitted diseases.Andrology · 2019Article
- Association of single nucleotide polymorphisms in the USF1, GTF2A1L and OR2W3 genes with non-obstructive azoospermia in the Chinese population.Journal of assisted reproduction and genetics · 2015Article
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Authors and funding
8 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Azoospermia is defined by absence of sperm in the semen and can either be caused by obstruction of the seminal tract (obstructive azoospermia) or by defects in spermatogenesis (non-obstructive azoospermia, NOA). Previous studies reported that specific alleles and single nucleotide polymorphisms (SNPs) in the human leukocyte antigen (HLA) region were associated with NOA in East Asians. We attempt to expand upon previous findings by genotyping more HLA genes and to replicate SNP associations by focusing on Japanese NOA patients. HLA typing of six genes (HLA-A, -B, -C, -DRB1, -DQB1, and -DPB1) was done on 355 NOA patients using SSO-Luminex assay while genotyping of two previously reported SNPs (rs498422 and rs3129878) was done on 443 patients and 544 fertile males using TaqMan assay. Association between the HLA alleles and SNP with NOA was assessed with Chi squared and logistic regression tests. We found that HLA-DPB1*04:01 [corrected p value, P(c) 7.13 × 10(-6); odds ratio (OR) 2.52], DRB1*13:02 (P(c) 4.93 × 10(-4), OR 1.97), DQB1*06:04 (P(c) 8.94 × 10(-4), OR 1.91) and rs3129878 (p value 3.98 × 10(-4); OR 1.32) showed significant association with NOA, however, these loci are in linkage disequilibrium with each other. The conditional logistic regression tests showed that DPB1*04:01 is independently associated with NOA, confirming the involvement of the HLA region in the etiology of NOA in Japanese patients.
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