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The Association of ACSL1 and UCP2 3′ UTR Polymorphisms With the Clinicopathological Characteristics of Patients With Colorectal Cancer in Serbia Cover

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The Association of ACSL1 and UCP2 3′ UTR Polymorphisms With the Clinicopathological Characteristics of Patients With Colorectal Cancer in Serbia

Balkan Journal of Medical Genetics

Volume 28 (2025): Issue 2 (December 2025)

By: E Ajaj, D Cvetković, M Rašić, M Ristanović, J Petrović Šunderić, V Dragutinović and N Maksimović

Open Access

|May 2026

Figures & tables

Figures & Tables

Univariate and multivariate analysis of the association between genotypes and clinical factors and the occurrence of distant metastases in colorectal cancer patients_

Covariates	Univariate analysis			Multivariate analysis
Covariates	OR	95% CI	p-value	OR	95% CI	p-value
Age (≤50 vs >50 years)	0.266	0.083–0.852	0.026	0.187	0.044–0.793	0.023
Gender	2.069	0.734–5.830	0.169	4.396	1.069–18.085	0.040
Differentiation (WD+MD vs PD)	0.973	0.116–8.135	0.980
ACSL1 rs8086 (CC+CT vs TT)	1.809	0.900–3.636	0.096	2.749	1.020–7.414	0.046
UCP2 45 bp ins/del (DD vs ID+II)	4.120	1.093–15.534	0.037	5.094	1.179–22.016	0.029

Overview of the ACSL1 rs8086 and UCP2 45 bp ins/del gene polymorphisms and gene expression functional relevance in colorectal cancer_

Gene (polymorphism)	Functional effect of the polymorphism	Functional relevance
ACSL1 (rs8086)	The TT genotype correlates with higher ACSL1 mRNA levels [12]	ACSL1 knockdown suppresses anchorage-independent growth and reduces the migration of cancer cells [5,10] Presence of the TT genotype is associated with the clinical outcome of colon cancer patients with stage II or III of the disease. TT genotype decreases disease-free survival, with a 3-fold higher risk of relapse [12]
UCP2 (45 bp ins/del)	Possible effect on mRNA processing and transcriptional activity [16]	I allele may be associated with a decreased risk of CRC development [28] Higher UCP2 expression may promote cancer growth and survival [24] Overexpression of UCP2 could be associated with tumor aggressiveness [29] In patients with gastric adenocarcinoma tumors with high UCP2 expression were poorly differentiated, larger, had advanced T and N stages, increased number of infiltrated lymph nodes, lower apoptotic index and shorter disease-free survival [30]

Demographic and clinicopathological characteristics of colorectal cancer patients_

Characteristics	Colorectal cancer patients, n (%)
Sex
Male	110 (60.1)
Female	73 (39.9)
Age (range 19–86 years)
≤50 years	23 (12.6)
>50 years	160 (87.4)
Tumor location
Colon	65 (35.5)
-right	36 (19,7)
-left	29 (15,8)
Rectum	118 (64.5)
Differentiation
WD	120 (69.8)
MD	43 (25.0)
PD	11 (5.2)
Preoperative serum CEA (ng/mL)
≤6	51 (65.4)
>6	27 (34.6)
AJCC stage
I	29 (15.8)
II	41 (22.4)
III	79 (43.2)
IV	34 (18.3)
Lymph node metastasis
Negative	87 (47.5)
Positive ≤3 lymph nodes	49 (26.8)
>3 lymph nodes	47 (25.7)
Distant metastasis
Negative	167 (91.3)
Positive	16 (8.7)

Frequencies of ACSL1 rs8086 and UCP2 45bp ins/del genotypes and alleles_

Genotypes	Frequency %	Alleles	Frequency %
rs8086
CC	47.54	C	69.94
CT	44.81	T	30.06
TT	7.65
45bp ins/del
DD	52.87	D	73.28
ID	40.80	I	26.72
II	6.33

Genotype frequencies of ACSL1 rs8086 polymorphism in relation to clinicopathological characteristics of patients with colorectal cancer_

variables		ACSL1 rs8086
		Dominant model			Recessive model
		CC n (%)	CT+TT n (%)	p-value	CC+CT n (%)	TT n (%)	p-value
Age (years)	≤50	9 (10.3)	14 (14.6)	0.388^a	21 (12.4)	2 (14.3)	0.690^b
	>50	78 (89.7)	82 (85.4)	0.388^a	148 (87.6)	12 (85.7)	0.690^b
Tumor location	colon	22 (25.3)	43 (44.8)	0.006^a	61 (36.1)	4 (28.6)	0.773^b
	rectum	65 (74.7)	53 (55.2)	0.006^a	108 (63.9)	10 (71.4)	0.773^b
AJCC stage	I+II	36 (41.4)	34 (35.4)	0.407^a	65 (38.5)	5 (35.7)	0.839^a
	III+IV	51 (58.6)	62 (64.6)	0.407^a	104 (61.5)	9 (64.3)	0.839^a
Differentiation	WD+MD	75 (93.8)	86 (93.5)	0.942^a	147 (93.0)	14 (100.0)	0.603^b
	PD	5 (6.3)	6 (6.5)	0.942^a	11 (7.0)	0 (0.0)	0.603^b
Lymph node metastasis	negative	45 (51.7)	42 (43.8)	0.281^a	82 (48.5)	5 (35.7)	0.356^a
	positive	42 (48.3)	54 (56.3)	0.281^a	87 (51.5)	9 (64.3)	0.356^a
Distant metastasis	negative	82 (94.3)	85 (88.5)	0.172^a	156 (92.3)	11 (78.6)	0.110^b
	positive	5 (5.7)	11 (11.5)	0.172^a	13 (7.7)	3 (21.4)	0.110^b

Genotype frequencies of UCP2 45bp ins/del polymorphism in relation to clinicopathological characteristics of colorectal cancer patients_

variables		UCP2 45 bp ins/del
		Dominant model			Recessive model
		DD n (%)	ID+II n (%)	p-value	DD+ID n (%)	II n (%)	p-value
Age (years)	≤50	13 (14.1)	9 (11.0)	0.532^a	21 (12.9)	1 (9.1)	1.000^b
	>50	79 (85.9)	73 (89.0)	0.532^a	142 (87.1)	10 (90.9)	1.000^b
Tumor location	colon	27 (29.3)	34 (41.5)	0.095^a	53 (32.5)	8 (72.7)	0.010^b
	rectum	65 (70.7)	48 (58.5)	0.095^a	110 (67.5)	3 (27.3)	0.010^b
AJCC stage	I+II	39 (42.4)	28 (34.1)	0.265^a	64 (39.3)	3 (27.3)	0.534^b
	III+IV	53 (57.6)	54 (65.9)	0.265^a	99 (60.7)	8 (72.7)	0.534^b
Differentiation	WD+MD	80 (90.9)	72 (96.0)	0.196^a	141 (92.8)	11 (100.0)	1.000^b
	PD	8 (9.1)	3 (4.0)	0.196^a	11 (7.2)	0 (0.0)	1.000^b
Lymph node metastasis	negative	44 (47.8)	40 (48.8)	0.900^a	78 (47.9)	6 (54.5)	0.667^a
	positive	48 (52.2)	42 (51.2)	0.900^a	85 (52.1)	5 (45.5)	0.667^a
Distant metastasis	negative	89 (96.7)	72 (87.8)	0.025^a	150 (92.0)	11 (100.0)	1.000^b
	positive	3 (3.3)	10 (12.2)	0.025^a	13 (8.0)	0 (0.0)	1.000^b

Articles in this issue

DOI: https://doi.org/10.2478/bjmg-2025-00015 | Journal eISSN: 2199-5761

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Language: English

Page range: 41 - 48

Published on: May 14, 2026

Published by: Macedonian Academy of Sciences and Arts

In partnership with: Paradigm Publishing Services

Publication frequency: 2 issues per year

Keywords:

colorectal cancer,

gene polymorphism,

distant metastases

Related subjects:

Basic medical science,

Basic medical science, other

© 2026 E Ajaj, D Cvetković, M Rašić, M Ristanović, J Petrović Šunderić, V Dragutinović, N Maksimović, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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