PMID- 15899960
OWN - NLM
STAT- MEDLINE
DCOM- 20050914
LR  - 20210825
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 90
IP  - 8
DP  - 2005 Aug
TI  - Association of cryptorchidism with a specific haplotype of the estrogen receptor 
      alpha gene: implication for the susceptibility to estrogenic environmental 
      endocrine disruptors.
PG  - 4716-21
AB  - CONTEXT: The prevalence of cryptorchidism (CO) has increased during the past few 
      decades in several countries, and this event has primarily been ascribed to the 
      estrogenic effects of environmental endocrine disruptors (EEDs). Little is known, 
      however, about the role of genetic susceptibility to EEDs in this phenomenon. 
      OBJECTIVE: The objective of this study was to determine whether CO is associated 
      with a specific haplotype of the gene for estrogen receptor alpha (ESR1) that 
      mediates the estrogenic effects of EEDs. DESIGN: This was a case-control study. 
      SETTING: The study was performed at the National Research Institute and 
      University Hospitals. SUBJECTS: Sixty-three cryptorchid males, aged 1-13 yr, and 
      47 control males, aged 4-12 yr, were studied. INTERVENTION: After genotyping 15 
      single nucleotide polymorphisms widely distributed in the greater than 300-kb 
      genomic sequences of ESR1, haplotype analysis was performed. MAIN OUTCOME 
      MEASURE: Identification of a specific ESR1 haplotype associated with CO was the 
      main outcome measure. RESULTS: A haplotype block was identified for an 
      approximately 50-kb region encompassing single nucleotide polymorphisms 10-14 in 
      the 3' region of ESR1 in both groups. The frequency of the estimated AGATA 
      haplotype within the block was higher in the patients than in the control males 
      (34.0% vs. 21.3%; P = 0.037), and the association of this haplotype with CO 
      phenotype was significant in a recessive mode (P = 0.0060). The homozygosity for 
      this haplotype was identified only in the patients, and the frequency of the 
      homozygotes was significantly different between the two groups (10 of 63 vs. zero 
      of 47; P = 0.0042). CONCLUSIONS: The association of CO with homozygosity for the 
      specific ESR1 haplotype suggests the relevance of genetic susceptibility to EEDs 
      in the development of CO.
FAU - Yoshida, Rie
AU  - Yoshida R
AD  - Department of Endocrinology and Metabolism, National Research Institute for Child 
      Health and Development, 2-10-1 Ohkura, Setagaya, Tokyo 157-8535, Japan.
FAU - Fukami, Maki
AU  - Fukami M
FAU - Sasagawa, Isoji
AU  - Sasagawa I
FAU - Hasegawa, Tomonobu
AU  - Hasegawa T
FAU - Kamatani, Naoyuki
AU  - Kamatani N
FAU - Ogata, Tsutomu
AU  - Ogata T
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20050517
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
RN  - 0 (Estrogen Receptor alpha)
RN  - 0 (Estrogens)
SB  - IM
CIN - J Clin Endocrinol Metab. 2005 Aug;90(8):4975-7. PMID: 16087960
EIN - J Clin Endocrinol Metab. 2021 Jan 1;106(1):e411. PMID: 33146697
MH  - Adolescent
MH  - Case-Control Studies
MH  - Child
MH  - Child, Preschool
MH  - Cryptorchidism/etiology/*genetics
MH  - *Environmental Exposure
MH  - Estrogen Receptor alpha/*genetics
MH  - *Estrogens
MH  - Genetic Predisposition to Disease
MH  - Haplotypes
MH  - Humans
MH  - Infant
MH  - Linkage Disequilibrium
MH  - Male
MH  - Polymorphism, Single Nucleotide
EDAT- 2005/05/19 09:00
MHDA- 2005/09/15 09:00
CRDT- 2005/05/19 09:00
PHST- 2005/05/19 09:00 [pubmed]
PHST- 2005/09/15 09:00 [medline]
PHST- 2005/05/19 09:00 [entrez]
AID - jc.2005-0211 [pii]
AID - 10.1210/jc.2005-0211 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 2005 Aug;90(8):4716-21. doi: 10.1210/jc.2005-0211. Epub 
      2005 May 17.