Janusz Piotr

Malgorzata Kotwicka

Miroslaw Andrusiewicz

Tomasz Kotwicki

Scoliosis

PubMed

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Replication study of estrogen receptor 1 XbaI polymorphism in adolescent idiopathic scoliosis (AIS) Caucasian population

ORAL PRESENTATION Open Access
Replication study of estrogen receptor 1 XbaI
polymorphism in adolescent idiopathic scoliosis
(AIS) Caucasian population
Janusz Piotr*, Tomasz Kotwicki, Miroslaw Andrusiewicz, Malgorzata Kotwicka
From 10th International Conference on Conservative Management of Spinal Deformities - SOSORT 2013
Annual Meeting
Chicago, IL, USA. 8-11 May 2013
Background
It has been suggested that XbaI single nucleotide poly-
morphism (SNP) (A/G rs934099) in estrogen receptor 1
(ESR1) may be associated with curve severity in Japanese
AIS patients [1] and with both curve severity and predis-
position for AIS in Chinese patients [2]. However, replica-
tion studies have not confirmed these findings [3]. The
role of the XbaI ESR1 polymorphism rs9340799 in AIS
has never been described in Caucasian AIS patients.
Purpose
A genetic association study was performed to investigate
the association between XbaI SNP in ESR1 and the pre-
disposition for, or progression of, AIS in Caucasian
patients.
Methods
A total of 286 females with AIS underwent clinical, radi-
ological and genetic examination. Patients were divided
into three groups according to progression velocity:
nonprogresive (final Cobb angle <30°), slowly progres-
sive (progression <1° per month for ≥6 months), and
rapidly progressive (progression ≥1° per month for ≥6
months). For each genotype (AA, AG, GG) the mean
Cobb angle and surgery rate were calculated. The con-
trol group consisted of 116 healthy females with nega-
tive family history of AIS. DNA was obtained from
peripheral blood and the XbaI SNP of ESR1 was ana-
lyzed by restriction fragments length polymorphisms.
Results
There was no significant difference in alleles (p=0.63)
and genotype frequency (p=0.35) between AIS patients
(AA n=95, AG n=141, GG n=50) and controls (AA
n=31, AG n=66, GG n=19). There was no significant
difference in genotype frequency for nonprogressive,
slowly progressive, and rapidly progressive curves
(p=0.47). No difference among three genotypes for
mean Cobb angle (AA 38.6°, AG 38.5°, GG 38.5°) or sur-
gery rate (AA 27.4%, AG 27.6%, GG 30%) was found. All
results followed the Hardy-Weinberg equilibrium.
Conclusions and discussion
No association between ESR1 XbaI polymorphism and
AIS was found in the Caucasian population. None of
the previously reported associations with curve severity,
progression or operation rate could be confirmed.
Published: 18 September 2013
References
1. Inoue M, Minami S, Nakata Y, Kitahara H, Otsuka Y, Isobe K, Takaso M,
Tokunaga M, Nishikawa S, Maruta T, Moriya H: Association between
estrogen receptor gene polymorphisms and curve severity of idiopathic
scoliosis. Spine (Phila Pa 1976) 2002, 27(21):2357-2362.
2. Takahashi Y, Matsumoto M, Karasugi T, Watanabe K, Chiba K, Kawakami N,
Tsuji T, Uno K, Suzuki T, Ito M, Sudo H, Minami S, Kotani T, Kono K,
Yanagida H, Taneichi H, Takahashi A, Toyama Y, Ikegawa S: Replication
study of the association between adolescent idiopathic scoliosis and
two estrogen receptor genes. J Orthop Res 2011, 29(6):834-837.
3. Wu J, Qiu Y, Zhang L, Sun Q, Qiu X, He Y: Association of estrogen
receptor gene polymorphisms with susceptibility to adolescent
idiopathic scoliosis. Spine (Phila Pa 1976) 2006, 31(10):1131-1136.
doi:10.1186/1748-7161-8-S2-O2
Cite this article as: Piotr et al.: Replication study of estrogen receptor
1 XbaI polymorphism in adolescent idiopathic scoliosis (AIS) Caucasian
population. Scoliosis 2013 8(Suppl 2):O2.* Correspondence: mdpjanusz@gmail.com
University of Medical Sciences, Poznan, Poland
Piotr et al. Scoliosis 2013, 8(Suppl 2):O2
http://www.scoliosisjournal.com/content/8/S2/O2
© 2013 Piotr et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons
Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in
any medium, provided the original work is properly cited.


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Replication study of estrogen receptor 1 XbaI polymorphism in adolescent idiopathic scoliosis (AIS) Caucasian population

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