PMID- 21170691
OWN - NLM
STAT- MEDLINE
DCOM- 20110826
LR  - 20211020
IS  - 2190-3883 (Electronic)
IS  - 1234-1983 (Linking)
VI  - 52
IP  - 2
DP  - 2011 May
TI  - The -112G>A polymorphism of the secretoglobin 3A2 (SCGB3A2) gene encoding 
      uteroglobin-related protein 1 (UGRP1) increases risk for the development of 
      Graves' disease in subsets of patients with elevated levels of immunoglobulin E.
PG  - 201-7
LID - 10.1007/s13353-010-0022-0 [doi]
AB  - The human secretoglobin 3A2 (SCGB3A2) gene encoding secretory uteroglobin-related 
      protein 1 (UGRP1) resides on the chromosome region 5q31-33 that harbors a 
      susceptibility locus to several autoimmune and inflammatory diseases, including 
      asthma and Graves' disease (GD). Recently, association between the marker 
      rs1368408 (-112G >A), located in the promoter region of the SCGB3A2 gene, and 
      susceptibility to GD was found in Chinese and UK Caucasians. The study aim was to 
      evaluate whether this polymorphism confers GD susceptibility in a large 
      population cohort comprising 1,474 Russian GD patients and 1,619 controls. The 
      marker rs1368408 was studied using a TaqMan allele discrimination assay. Serum 
      levels of UGRP1 and immunoglobulin E (IgE) were assessed using enzyme-linked 
      immunosorbent assay (ELISA) analyses. Association between the allele A of SCGB3A2 
      and a higher risk of GD (odds ratio [OR] = 1.33, P = 2.9 x 10(-5)) was shown. 
      Both affected and non-affected carriers of the higher risk genotype A/A had 
      significantly decreased levels of serum UGRP1 compared to the subjects homozygous 
      for G/G (93 +/- 37 pg/ml vs. 132 +/- 45 pg/ml, P = 0.0011 for GD patients; 77 +/- 28 
      pg/ml vs. 119 +/- 33 pg/ml, P = 0.0019 for controls). Serum IgE levels were 
      significantly higher in non-affected subjects homozygous for A/A compared to 
      control individuals homozygous for G/G (153 +/- 46 IU/ml vs. 122 +/- 40 IU/ml, P = 
      0.0095). Our data suggest that the carriage of the SCGB3A2 -112A/A variant 
      increases the risk for GD in subsets of patients with elevated levels of IgE, a 
      hallmark of allergic asthma. Therefore, the SCGB3A2 -112G >A polymorphism may be 
      considered as a likely marker linking susceptibility to allergy/asthma and GD on 
      chromosome 5q31-33.
FAU - Chistiakov, Dimitry A
AU  - Chistiakov DA
AD  - Department of Molecular Diagnostics, National Research Center GosNIIgenetika, 1st 
      Dorozhny Proezd 1, 117545, Moscow, Russia. dimitry.chistiakov@lycos.com
FAU - Voronova, Natalia V
AU  - Voronova NV
FAU - Turakulov, Rust I
AU  - Turakulov RI
FAU - Savost'anov, Kirill V
AU  - Savost'anov KV
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20101218
PL  - England
TA  - J Appl Genet
JT  - Journal of applied genetics
JID - 9514582
RN  - 0 (Genetic Markers)
RN  - 0 (SCGB3A2 protein, human)
RN  - 0 (Secretoglobins)
RN  - 37341-29-0 (Immunoglobulin E)
RN  - 9060-09-7 (Uteroglobin)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Asthma/genetics
MH  - Case-Control Studies
MH  - Female
MH  - Genetic Association Studies
MH  - Genetic Markers
MH  - *Genetic Predisposition to Disease
MH  - Genotype
MH  - Graves Disease/epidemiology/*genetics
MH  - Humans
MH  - Hypersensitivity/genetics
MH  - Immunoglobulin E/*blood
MH  - Male
MH  - Odds Ratio
MH  - *Polymorphism, Single Nucleotide
MH  - Promoter Regions, Genetic
MH  - Russia/epidemiology
MH  - Secretoglobins
MH  - Sequence Analysis, DNA
MH  - Uteroglobin/blood/*genetics
MH  - Young Adult
EDAT- 2010/12/21 06:00
MHDA- 2011/08/30 06:00
CRDT- 2010/12/21 06:00
PHST- 2010/11/01 00:00 [received]
PHST- 2010/11/25 00:00 [accepted]
PHST- 2010/11/23 00:00 [revised]
PHST- 2010/12/21 06:00 [entrez]
PHST- 2010/12/21 06:00 [pubmed]
PHST- 2011/08/30 06:00 [medline]
AID - 10.1007/s13353-010-0022-0 [doi]
PST - ppublish
SO  - J Appl Genet. 2011 May;52(2):201-7. doi: 10.1007/s13353-010-0022-0. Epub 2010 Dec 
      18.