PMID- 21811055
OWN - NLM
STAT- MEDLINE
DCOM- 20121106
LR  - 20221207
IS  - 1661-5433 (Electronic)
IS  - 1661-5425 (Linking)
VI  - 5
IP  - 5
DP  - 2011
TI  - Association of primary ovarian insufficiency with a specific human leukocyte 
      antigen haplotype (A*24:02-C*03:03-B*35:01) in Japanese women.
PG  - 235-40
LID - 10.1159/000330122 [doi]
AB  - Primary ovarian insufficiency (POI) is a heterogeneous condition defined by the 
      triad of oligo/amenorrhea, elevated gonadotropins and estrogen deficiency in 
      women under the age of 40 years. Although autoimmune abnormalities appear to be 
      involved in the development of POI, there are only a few studies with respect to 
      human leukocyte antigen (HLA). The objective of this study was to identify an HLA 
      allele(s) and/or haplotype(s) constituting a susceptibility factor(s) for POI. We 
      examined 83 Japanese women with apparently idiopathic isolated POI. For controls, 
      Japanese HLA reference data registered in the HLA Laboratory were utilized. No 
      significant association was found for a total of 94 alleles for HLA-A, B, C, 
      DRB1, and DQB1 loci, after both stringent Bonferroni correction and less 
      stringent Benjamini- Hochberg (B-H) correction for multiple comparisons. By 
      contrast, of 86 haplotypes identified for MHC class I (HLA-A, B, and C) and 31 
      haplotypes detected for MHC class II (HLA-DRB1 and DQB1), a single haplotype 
      (A*24:02-C*03:03-B*35:01) remained significant after Bonferroni and B-H 
      corrections (frequency: 4.82% in women with POI and 1.06% in the control data; p 
      = 0.00049). The results imply that a specific HLA haplotype 
      (A*24:02-C*03:03-B*35:01) constitutes a susceptibility factor for apparently 
      isolated POI in Japanese women.
CI  - Copyright (c) 2011 S. Karger AG, Basel.
FAU - Ayabe, T
AU  - Ayabe T
AD  - Department of Molecular Endocrinology, National Research Institute for Child 
      Health and Development, Tokyo, Japan.
FAU - Ishizuka, B
AU  - Ishizuka B
FAU - Maruyama, T
AU  - Maruyama T
FAU - Fukami, M
AU  - Fukami M
FAU - Yoshida, R
AU  - Yoshida R
FAU - Uchida, H
AU  - Uchida H
FAU - Yoshimura, Y
AU  - Yoshimura Y
FAU - Nagai, T
AU  - Nagai T
FAU - Ogata, T
AU  - Ogata T
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20110728
PL  - Switzerland
TA  - Sex Dev
JT  - Sexual development : genetics, molecular biology, evolution, endocrinology, 
      embryology, and pathology of sex determination and differentiation
JID - 101316472
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Asian People/*genetics
MH  - Female
MH  - *Genetic Association Studies
MH  - *Genetic Predisposition to Disease
MH  - HLA Antigens/*genetics
MH  - Haplotypes/*genetics
MH  - Humans
MH  - Japan/ethnology
MH  - Primary Ovarian Insufficiency/*genetics
EDAT- 2011/08/04 06:00
MHDA- 2012/11/07 06:00
CRDT- 2011/08/04 06:00
PHST- 2011/08/04 06:00 [entrez]
PHST- 2011/08/04 06:00 [pubmed]
PHST- 2012/11/07 06:00 [medline]
AID - 000330122 [pii]
AID - 10.1159/000330122 [doi]
PST - ppublish
SO  - Sex Dev. 2011;5(5):235-40. doi: 10.1159/000330122. Epub 2011 Jul 28.