PMID- 23934009
OWN - NLM
STAT- MEDLINE
DCOM- 20140122
LR  - 20221207
IS  - 1432-1203 (Electronic)
IS  - 0340-6717 (Linking)
VI  - 132
IP  - 12
DP  - 2013 Dec
TI  - HLA-DPB1*04:01 allele is associated with non-obstructive azoospermia in Japanese 
      patients.
PG  - 1405-11
LID - 10.1007/s00439-013-1347-7 [doi]
AB  - 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 x 10(-6); odds ratio (OR) 2.52], DRB1*13:02 (P(c) 
      4.93 x 10(-4), OR 1.97), DQB1*06:04 (P(c) 8.94 x 10(-4), OR 1.91) and rs3129878 
      (p value 3.98 x 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.
FAU - Jinam, Timothy A
AU  - Jinam TA
AD  - Division of Human Genetics, National Institute of Genetics, Yata 1111, Mishima, 
      411-8540, Japan, tjinam@nig.ac.jp.
FAU - Nakaoka, Hirofumi
AU  - Nakaoka H
FAU - Hosomichi, Kazuyoshi
AU  - Hosomichi K
FAU - Mitsunaga, Shigeki
AU  - Mitsunaga S
FAU - Okada, Hiroyuki
AU  - Okada H
FAU - Tanaka, Atsushi
AU  - Tanaka A
FAU - Tanaka, Kenichi
AU  - Tanaka K
FAU - Inoue, Ituro
AU  - Inoue I
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20130810
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (HLA-DP beta-Chains)
RN  - 0 (HLA-DPB1*04:01 antigen)
RN  - Azoospermia, Nonobstructive
SB  - IM
MH  - Alleles
MH  - Asian People/*genetics
MH  - Azoospermia/epidemiology/ethnology/*genetics
MH  - Case-Control Studies
MH  - Female
MH  - Gene Frequency
MH  - Genetic Association Studies
MH  - Genetic Predisposition to Disease
MH  - HLA-DP beta-Chains/*genetics
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Logistic Models
MH  - Male
MH  - Polymorphism, Single Nucleotide
EDAT- 2013/08/13 06:00
MHDA- 2014/01/23 06:00
CRDT- 2013/08/13 06:00
PHST- 2013/06/04 00:00 [received]
PHST- 2013/07/29 00:00 [accepted]
PHST- 2013/08/13 06:00 [entrez]
PHST- 2013/08/13 06:00 [pubmed]
PHST- 2014/01/23 06:00 [medline]
AID - 10.1007/s00439-013-1347-7 [doi]
PST - ppublish
SO  - Hum Genet. 2013 Dec;132(12):1405-11. doi: 10.1007/s00439-013-1347-7. Epub 2013 
      Aug 10.