Association and meta-analysis of HLA and non-obstructive azoospermia in the Han Chinese population.
The exact aetiology and pathogenesis of most non-obstructive azoospermia (NOA) are still unknown. The previous two genomewide association studies (GWASs) have identified three different loci within the HLA region for NOA in the Han Chinese population, including rs3129878, rs498422 and rs7194. To further validate the risk of three GWAS-linked loci for NOA, we conducted a case-control study of these three risk loci in an independent Han Chinese male population, with 603 NOA patients and 610 controls. Furthermore, we also performed a meta-analysis of five studies on these three NOA-risk loci. The case-control study strongly suggested a significant association between loci rs3129878, rs498422 and rs7194 and NOA (P = 6.75 × 10-21(OR = 2.2586), P = 0.0060 (OR = 1.4013) and P = 0.0128 (OR = 1.2626) respectively). Our meta-analyses also supported the susceptibility of these three risk loci to NOA (P < 0.01). The risk variants within the HLA region potentially have a strong effect on males at risk of NOA, and may serve as diagnostic markers for male infertility. However, considering genetic difference between different populations, future validating studies in larger independent samples and animal experiments are suggested.
Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.|Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.
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S
Zou
Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.|Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.
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P
Song
Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.|Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.
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H
Meng
Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.|Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.
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T
Chen
BIO-X Center, Shanghai Jiao Tong University, Shanghai, China.
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J
Chen
BIO-X Center, Shanghai Jiao Tong University, Shanghai, China.
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Z
Wen
BIO-X Center, Shanghai Jiao Tong University, Shanghai, China.
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Z
Li
Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.|Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.
Z
Z
Li
BIO-X Center, Shanghai Jiao Tong University, Shanghai, China.
Y
Y
Shi
Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.|Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.
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H
Hu
D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D053713:Azoospermia / Q000453:epidemiology* / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics*; D064368:Healthy Volunteers; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
D006680:HLA Antigens
Association study; HLA (major histocompatibility complex); non-obstructive azoospermia; single nucleotide polymorphism