Association of the leukemia inhibitory factor gene polymorphism rs929271 with idiopathic mild intellectual disability
Aim. To investigate the possible association of LIF gene polymorphism rs929271 with mild intellectual disability (ID). Methods. The group of patients with mild (IQ score between 50 and 70) idiopathic intellectual disability consisted of 64 individuals including 40 (62.5 %) males and 24 (47.5 %) fema...
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| Cite this: | Association of the leukemia inhibitory factor gene polymorphism rs929271 with idiopathic mild intellectual disability/ R.V. Gulkovskyi, L.S. Volkova, L.A. Livshits // Biopolymers and Cell. — 2015. — Т. 31, № 1. — С. 34-37 . — Бібліогр.: 23 назв. — англ. |
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nasplib_isofts_kiev_ua-123456789-1524312025-02-09T14:53:35Z Association of the leukemia inhibitory factor gene polymorphism rs929271 with idiopathic mild intellectual disability Асоціація поліморфізму rs929271 гена лейкемія-інгібуючого фактора з ідіопатичною легкою інтелектуальною недієздатністю Ассоциация полиморфизма rs929271 гена лейкемия-ингибирующего фактора с идиопатической легкой интеллектуальной недееспособностью Gulkovskyi, R.V. Volkova, L.S. Livshits, L.A. Biomedicine Aim. To investigate the possible association of LIF gene polymorphism rs929271 with mild intellectual disability (ID). Methods. The group of patients with mild (IQ score between 50 and 70) idiopathic intellectual disability consisted of 64 individuals including 40 (62.5 %) males and 24 (47.5 %) females. The control group consisted of 238 healthy volunteers from different regions of Ukraine. Polymorphic variants of LIF gene rs929271 were detected using PCR followed by Hinf1 RFLP analysis. Results. The data concerning LIF genotypes and allelic variants distribution in ID patients and control group were obtained. Statistical analysis shows significant differences at rs929271 for both genotype and allele frequency when comparing ID cases and controls (p = 0.01 and 0.02, respectively). Conclusions. Our results suggest that LIF gene polymorphism rs929271 is associated with idiopathic mild intellectual disability. Therefore, we propose LIF as a new marker of genetic susceptibility for intellectual disability. Мета. Дослідити можливу асоціацію поліморфізму rs929271 гена LIF з легкою інтелектуальною недієздатністю (ІН). Методи. Група пацієнтів з легкою (IQ між 50 і 70) ідіопатичною інтелектуальною недієздатністю складалася з 64 індивідів, включаючи 40 (62,5 %) чоловіків і 24 (47,5 %) жінки. Контрольна група складалася з 238 здорових добровольців з різних регіонів України. Поліморфні варіанти rs929271 гена LIF виявляли за допомогою ПЛР з подальшим Hinf1 ПДРФ аналізом. Результати. Були отримані дані про розподіл генотипів і алельних варіантів гена LIF в групі пацієнтів з ІН і в контрольній групі. Статистичний аналіз показує значимі відмінності по rs929271 як для частот генотипів, так і алельних варіантів при порівнянні досліджуваної та контрольної груп (р = 0,01 і 0,02, відповідно). Висновки. Наші результати показують, що поліморфізм rs929271гена LIF асоційований з легкою ідіопатичною інтелектуальною недієздатністю. Тому ми пропонуємо LIF в якості нового маркера генетичної схильності до інтелектуальної недієздатності. Цель. Исследовать возможную ассоциацию полиморфизма rs929271 гена LIF с легкой интеллектуальной недееспособностью (ИН). Методы. Группа пациентов с легкой (IQ между 50 и 70) идиопатической интеллектуальной недееспособностью состояла из 64 индивидов, включая 40 (62,5 %) мужчин и 24 (47,5 %) женщины. Контрольная группа состояла из 238 здоровых добровольцев из разных регионов Украины. Полиморфные варианты rs929271 гена LIF выявляли посредством ПЦР с последующим Hinf1 ПДРФ анализом. Результаты. Были получены данные о распределении генотипов и аллельных вариантов гена LIF в группе пациентов с ИН и в контрольной группе. Статистический анализ показывает значимые различия по rs929271 как для частот генотипов, так и аллелей при сравнении исследуемой и контрольной групп (р = 0,01 и 0,02, соответственно). Выводы. Наши результаты показывают, что полиморфизм rs929271гена LIF ассоциирован с легкой идиопатической интеллектуальной недееспособностью. Поэтому мы предлагаем LIF в качестве нового маркера генетической предрасположенности к интеллектуальной недееспособности. 2015 Article Association of the leukemia inhibitory factor gene polymorphism rs929271 with idiopathic mild intellectual disability/ R.V. Gulkovskyi, L.S. Volkova, L.A. Livshits // Biopolymers and Cell. — 2015. — Т. 31, № 1. — С. 34-37 . — Бібліогр.: 23 назв. — англ. 0233-7657 DOI: http://dx.doi.org/10.7124/bc.0008CA https://nasplib.isofts.kiev.ua/handle/123456789/152431 575.1+577.11+577.21 en application/pdf |
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Biomedicine Biomedicine |
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Biomedicine Biomedicine Gulkovskyi, R.V. Volkova, L.S. Livshits, L.A. Association of the leukemia inhibitory factor gene polymorphism rs929271 with idiopathic mild intellectual disability |
| description |
Aim. To investigate the possible association of LIF gene polymorphism rs929271 with mild intellectual disability (ID). Methods. The group of patients with mild (IQ score between 50 and 70) idiopathic intellectual disability consisted of 64 individuals including 40 (62.5 %) males and 24 (47.5 %) females. The control group consisted of 238 healthy volunteers from different regions of Ukraine. Polymorphic variants of LIF gene rs929271 were detected using PCR followed by Hinf1 RFLP analysis. Results. The data concerning LIF genotypes and allelic variants distribution in ID patients and control group were obtained. Statistical analysis shows significant differences at rs929271 for both genotype and allele frequency when comparing ID cases and controls (p = 0.01 and 0.02, respectively). Conclusions. Our results suggest that LIF gene polymorphism rs929271 is associated with idiopathic mild intellectual disability. Therefore, we propose LIF as a new marker of genetic susceptibility for intellectual disability. |
| format |
Article |
| author |
Gulkovskyi, R.V. Volkova, L.S. Livshits, L.A. |
| author_facet |
Gulkovskyi, R.V. Volkova, L.S. Livshits, L.A. |
| author_sort |
Gulkovskyi, R.V. |
| title |
Association of the leukemia inhibitory factor gene polymorphism rs929271 with idiopathic mild intellectual disability |
| title_short |
Association of the leukemia inhibitory factor gene polymorphism rs929271 with idiopathic mild intellectual disability |
| title_full |
Association of the leukemia inhibitory factor gene polymorphism rs929271 with idiopathic mild intellectual disability |
| title_fullStr |
Association of the leukemia inhibitory factor gene polymorphism rs929271 with idiopathic mild intellectual disability |
| title_full_unstemmed |
Association of the leukemia inhibitory factor gene polymorphism rs929271 with idiopathic mild intellectual disability |
| title_sort |
association of the leukemia inhibitory factor gene polymorphism rs929271 with idiopathic mild intellectual disability |
| publishDate |
2015 |
| topic_facet |
Biomedicine |
| url |
https://nasplib.isofts.kiev.ua/handle/123456789/152431 |
| citation_txt |
Association of the leukemia inhibitory factor gene polymorphism rs929271 with idiopathic mild intellectual disability/ R.V. Gulkovskyi, L.S. Volkova, L.A. Livshits // Biopolymers and Cell. — 2015. — Т. 31, № 1. — С. 34-37 . — Бібліогр.: 23 назв. — англ. |
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| fulltext |
34
Biomedicine
UDC 575.1+577.11+577.21
Association of the leukemia inhibitory factor gene
polymorphism rs929271 with idiopathic mild intellectual disability
R. V. Gulkovskyi1, 2, L. S. Volkova1, 2, L. A. Livshits1, 2
1 Institute of Molecular Biology and Genetics, NAS of Ukraine
150, Akademika Zabolotnoho Str., Kyiv, Ukraine, 03680
2 Educational and Scientifi c Center «Institute of Biology»,
Taras Shevchenko National University of Kyiv
64/13, Volodymyrska Str., Kyiv, Ukraine, 01601
livshits@imbg.org.ua
Aim. To investigate the possible association of LIF gene polymorphism rs929271 with mild intellectual
disability (ID). Methods. The group of patients with mild (IQ score between 50 and 70) idiopathic intel-
lectual disability consisted of 64 individuals including 40 (62.5 %) males and 24 (47.5 %) females. The
control group consisted of 238 healthy volunteers from different regions of Ukraine. Polymorphic variants
of LIF gene rs929271 were detected using PCR followed by Hinf1 RFLP analysis. Results. The data con-
cerning LIF genotypes and allelic variants distribution in ID patients and control group were obtained.
Statistical analysis shows signifi cant differences at rs929271 for both genotype and allele frequency when
comparing ID cases and controls (p = 0.01 and 0.02, respectively). Conclusions. Our results suggest that
LIF gene polymorphism rs929271 is associated with idiopathic mild intellectual disability. Therefore, we
propose LIF as a new marker of genetic susceptibility for intellectual disability.
K e y w o r d s: LIF gene, intellectual disability, polymorphism, population.
Introduction
Intellectual disability is a neurodevelopmental disor-
der, affecting about 3 % of the population, and is as-
sociated with a series of social and medical handi-
caps [1]. The causes of intellectual disability vary
with the severity of the condition: moderate-to-se-
vere intellectual disability (IQ less than 50) is much
more likely to be due to a single pathological cause
(genetic or environmental) whereas mild ID (defi ned
as an IQ score between 50 and 70) is rather due to
the complex condition in origin [2].
Leukemia inhibitory factor (LIF) is a member of
the neuropoietic family of neurotrophins and was
found to regulate the neuronal phenotype and coor-
dinates astrocyte, oligodendrocyte, microglia, and
infl ammatory cell responses [3–5]. Furthermore, LIF
is shown to act as a survival factor for neurons and
oligodendrocytes [6, 7].
Upon binding to the heterodimeric glycoprotein
130 (gp130)/LIF receptor (LIFR) complex, LIF acti-
vates several major intracellular signaling pathways
including ERK/MAPK signaling [8, 9]. It was discov-
ered that ERK/MAPK pathway is important for nor-
mal cognitive development and is required for cer-
tain types of synaptic plasticity [10, 11]. It was
shown that the mutations in genes coding for ERK/
MAPK pathway proteins and regulators such as
SYNGAP1 and RPS6KA3 cause non-syndromic in-
tellectual disability (NS-ID) and autism spect rum
disorders [12–16].
The leukemia inhibitory factor gene is located on
chromosome 22q12.1-q12.2 [17]. The T to G tran-
sversion rs929271 is located in the 3 primed untrans-
ISSN 0233-7657
Biopolymers and Cell. 2015. Vol. 31. N 1. P. 34–37
doi: http://dx.doi.org/10.7124/bc.0008CA
© 2015 R. V. Gulkovskyi et al.; Published by the Institute of Molecular Biology and Genetics, NAS of Ukraine on behalf of Biopolymers and Cell.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/),
which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited
35
Association of the leukemia inhibitory factor gene polymorphism rs929271 with idiopathic mild intellectual disability
lated region of the LIF gene. This polymor phism is
suggested to reduce mRNA stability and fi nally may
have an effect on the amount of secreted LIF [18].
Previous reports have demonstrated that the LIF
gene variant (rs929271) may produce susceptibility
to vascular dementia, hebephrenic schi zophrenia and
deterioration of working memory function [19, 20].
Aim of this study is to evaluate the possible asso-
ciation of the LIF gene polymorphism rs929271 with
mild intellectual disability.
Materials and Methods
DNA-samples were extracted from peripheral blo-
od leucocytes of unrelated volunteers from differ-
ent regions of Ukraine and ID patients by the stan-
dard phenol-chloroform method. Informed consents
we re obtained from all the individuals participating
in our study.
The group of patients with mild (IQ score between
50 and 70) idiopathic intellectual disability consisted
of 64 individuals including 40 (62.5 %) males and 24
(47.5 %) females, where previous extensive genetic
investigations have revealed no abnormalities. All pa-
tients underwent physical and neurological examina-
tion (test used for IQ: WISC III, WISC-R, WISC) and
standard G-banding ka ryotype analysis. DNA tests to
determine Fragile X status (FRAXA, FRAXE, FRAXF
loci) and Prader Willi/Angelman syndromes (PW/
AS) were perfor med to rule out the known genetic
causes of ID prior to further investigation. Array-CGH
analysis (400K resolution) revealed no any pathologi-
cal rearrangements in all patients.
The control group consisted of 238 individuals in-
cluding 128 (53.8 %) males and 110 (46.2 %) fe-
males. This group may be considered representative
for the estimation of DNA polymorphism frequency
in autosomal genes [21, 22].
The presence of LIF polymorphism rs929271
was examined by PCR-RFLP (restriction fragment
length polymorphism) analysis. Specifi c oligonucle-
otides, designed and synthesized in accordance to
corresponding sequences of LIF ge ne, were used as
primers: forward: 5’-GGGGACACAGAAACAAG
GACAGGG -3’ and reverse: 5’-AAGGGTCGGAT
CTGAGAGAATGGG-3’. Pri mers were desig ned us-
Fig. 1. RFLP analysis of rs929271 LIF gene variant (2 % agarose
gel electrophoresis): M – molecular mass marker (Ladder 50
bp); 1, 2, – individuals with homozygous ge notype TT; 3, 4 –
individuals with heterozygous genotype TG; 5 – individual with
homozygous genotype GG, 6 – negative control
Table 1. Distribution of genotypes
and allele variants in investigated groups
Control group,
n = 238
ID patients,
n =64
Genotype, n (%)
TT 107 (45) 18 (28.1)
TG 106 (44.5) 35 (54.7)
GG 25 (10.5) 11 (17.2)
TG+GG 131(55) 46(71.9)*
Allele, n (frequency)
T 320 (0.672) 71 (0.555)
G 156 (0.328) 57 (0.445)*
N o t e. N – number of individuals; * statistically reliable differ-
ence (P < 0,05).
298 bp
159 bp
139 bp
M 1 2 3 4 5 6
ing a web-based PRIMER 3.0 program (http://work-
bench.sdsc.edu). We used the «BLAST» program at
http://www.ncbi.nlm.nih. gov/blast to check for the
specifi city of the primers. Hypothetical RFLP results
36
R. V. Gulkovskyi, L. S. Volkova, L. A. Livshits
were tested using NEB cutter V2.0 (http://tools.neb.
com/NEBcutter2).
The PCR amplifi cation was performed in a fi nal
volume of 25 μl containing 1 × PCR buffer, 1.5 mM
MgCl2, 200 μM of each dNTP, 1 μM of each pri mer,
0.2 units of Taq-DNA polymerase and 200 ng of the
DNA template. The cycling conditions were as fol-
lows: initial denaturation at 95 C for 5 min, 30 cy-
cles consisting of denaturation at 94 C for 30 s,
annealing at 63 C for 30 s, extension at 72 C for 30
s and a fi nal elongation step at 72 C for 3 min. The
amplifi ed fragments were digested with HinfI. Di-
gestion was performed in 15 μl reaction volume con-
taining 1 X reaction buffer, 0.5 units of the restric-
tion enzyme and 10 μl of purifi ed PCR product, in-
cubated at 37 C overnight and analyzed in 2 %
standard agarose electrophoresis.
The results were statistically assessed using Ope-
nEpi software and Fisher’s 2 by 2 exact test, as well
as odd ratio (OR) calculation; p < 0.05 was consid-
ered to be statistically signifi cant test [23].
Results and Discussion
The designed primers successfully amplifi ed the
cor responding fragment (298 bp) of the LIF gene.
The T to G transition in rs929271 variant removes a
restriction site for endonuclease HinfI. Thereby three
different patterns could be observed for the rs929271
variant after the restriction digestion: a 298 bp band
(for rs929271 T/T); a 298 bp, a 159 bp and a 139 bp
bands (for rs929271 T/G); a 159 bp and a 139 bp
bands (rs929271 G/G) (Fig. 1).
Based on the RFLP analysis of the rs929271 vari-
ant, the individuals were classifi ed into three groups:
TT, TG and GG. Genotypes and allele frequencies of
the rs929271 polymorphism are presented in Table 1.
The observed genotype distributions showed no de-
viations from Hardy-Weinberg expectations in gener-
al population of Ukraine and in ID patients group.
It was determined that total frequency of hetero-
and homozygous carriers of the LIF gene rs929271
minor allele, in this case that of guanine (G), is reli-
ably higher (p = 0.01) in the ID patients group (71.9 %)
compared to the control group (55 %). The minor
G-allele occurred less frequently in the control gro-
up – 0.328 than in the ID patients gro up – 0.445 (p =
= 0.02). It was shown that the risk of mild ID devel-
opment increased for both hetero- and homozygous
carriers of minor rs929271 G-allele and the odd ratio
was 2.09 (95 % CI: 1.14–3.81).
Our results suggest that the LIF gene polymor-
phism rs929271 is associated with idiopathic mild
intellectual disability. These data can be explained
by a decrease of LIF levels in the LIF gene rs929271
minor allele G carriers that in turn, may affect the
regulation of neurogenesis and neuroprotection at
least via LIF/ERK/MAPK signaling.
Therefore, we propose LIF as a new marker of
genetic susceptibility for intellectual disability. Fu-
ture investigations are necessary to explain the mo-
lecular mechanisms of the LIF involvement in ID
pathogenesis.
Acknowledgements
We thank the patients and volunteers for their coop-
eration.
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Р. В. Гулковський, Л. С. Волкова, Л. А. Лівшиць
Асоціація поліморфізму rs929271
гена лейкемія-інгібуючого фактора з ідіопатичною
легкою інтелектуальною недієздатністю
Мета. Дослідити можливу асоціацію поліморфізму rs929271
гена LIF з легкою інтелектуальною недієздатністю (ІН). Мето-
ди. Група пацієнтів з легкою (IQ між 50 і 70) ідіопатичною інте-
лектуальною недієздатністю складалася з 64 індивідів, включа-
ючи 40 (62,5 %) чоловіків і 24 (47,5 %) жінки. Контрольна група
складалася з 238 здорових добровольців з різних регіонів Украї-
ни. Поліморфні варіанти rs929271 гена LIF виявляли за допо-
могою ПЛР з подальшим Hinf1 ПДРФ аналізом. Результати.
Були отримані дані про розподіл генотипів і алельних варіантів
ге на LIF в групі пацієнтів з ІН і в контрольній групі. Статистич-
ний аналіз показує значимі відмінності по rs929271 як для частот
генотипів, так і алельних варіантів при порівнянні досліджува-
ної та контрольної груп (р = 0,01 і 0,02, відповідно). Висновки.
Наші результати показують, що поліморфізм rs929271гена LIF
асоційований з легкою ідіопатичною інтелектуальною недієз-
датністю. Тому ми пропонуємо LIF в якості нового маркера ге-
нетичної схи льності до інтелектуальної недієздатності.
Ключові слова: ген LIF, інтелектуальна недієздат ність,
поліморфізм, популяція.
Р. В. Гулковский, Л. С. Волкова, Л. А. Лившиц
Ассоциация полиморфизма rs929271 гена
лейкемия-ингибирующего фактора с идиопатической
легкой интеллектуальной недееспособностью
Цель. Исследовать возможную ассоциацию полиморфиз ма
rs929271 гена LIF с легкой интеллектуальной недее спо -
собностью (ИН). Методы. Группа пациентов с легкой (IQ меж-
ду 50 и 70) идиопатической интеллектуальной недееспособ-
ностью состояла из 64 индивидов, включая 40 (62,5 %) мужчин
и 24 (47,5 %) женщины. Контрольная группа состояла из 238
здоровых добровольцев из разных регионов Украины. Поли-
морфные варианты rs929271 гена LIF выявляли посредством
ПЦР с последующим Hinf1 ПДРФ анализом. Результаты.
Были получены данные о распределении генотипов и аллель-
ных вариантов гена LIF в группе пациентов с ИН и в контроль-
ной группе. Статистический анализ показывает значимые раз-
личия по rs929271 как для частот генотипов, так и аллелей при
сравнении исследуемой и контрольной групп (р = 0,01 и 0,02,
соответственно). Выводы. Наши результаты показывают, что
полиморфизм rs929271гена LIF ассоциирован с легкой идиопа-
тической интеллектуальной недееспособностью. Поэтому мы
предлагаем LIF в качестве нового маркера генетической пред-
расположенности к интеллектуальной недееспособности.
Ключевые слова: ген LIF, интеллектуальная недее спо-
собность, полиморфизм, популяция.
Received 10.01.2015
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