Investigation of associations between apolipoprotein A5 and C3 gene polymorphisms with plasma triglyceride and lipid levels

Taşkin, Emre; Bağci, Hasan; Turan, Muhammed Kamil

doi:10.1590/1806-9282.20221016

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Original Article • Rev. Assoc. Med. Bras. 69 (3) • 2023 • https://doi.org/10.1590/1806-9282.20221016 copy

Investigation of associations between apolipoprotein A5 and C3 gene polymorphisms with plasma triglyceride and lipid levels

Authorship SCIMAGO INSTITUTIONS RANKINGS

SUMMARY

OBJECTIVE:

The aim of this study was to determine frequency and associations between APOA5 c.56C>G, −1131T>C, c.553G>T, and APOC3 −482C>T and SstI gene polymorphisms with hypertriglyceridemia.

METHODS:

Under a case-control study model, 135 hypertriglyceridemic and 178 normotriglyceridemic control participants were recruited. Polymerase chain reaction and restriction fragment length polymorphism methods were utilized for genotyping. Statistical calculations were performed by comparing allele and genotype frequencies between groups. Clinical characteristics were compared between groups and intra-group genotypes.

RESULTS:

APOC3 gene −482C>T and SstI polymorphic genotypes and allele frequencies were significantly higher in hypertriglyceridemic group (genotype frequencies, p=0.035, p=0.028, respectively). Regression analysis under unadjusted model confirmed that APOC3 −482C>T and SstI polymorphisms were significantly contributing to have hypertriglyceridemia (p=0.02, odds ratio [OR]=1.831 (95% confidence interval [CI] 1.095–3.060); p=0.04, OR=1.812 (1.031–3.183), respectively). APOA5 c.56C>G was in complete linkage disequilibrium with APOA5 c.553G>T polymorphism (D’=1).

CONCLUSION:

For the first time in a population sample from Turkey, among the five polymorphisms of APOA5 and APOC3 genes investigated, APOC3 −482C>T and SstI polymorphisms were associated with elevated serum TG levels, while APOA5 c.56C>G, −1131T>C, and c.553G>T polymorphisms were not.

KEYWORDS:
Apolipoprotein A-V; Apolipoprotein C-III; Lipids; Apolipoproteins; Genetic variation

	HTG	Controls	p-value
Gender (M/F)	70/65	58/78	>0.05
Age (years)	46.07±11	43.93±11	>0.05
TG (mmol/L)	3.61±1.38	1.34±0.48	<0.05
TC (mmol/L)	5.50±1.08	4.54±0.91	<0.05
HDLC (mmol/L)	1.01±0.24	1.18±0.33	<0.05
LDLC (mmol/L)	2.85±1.00	2.74±0.74	>0.05
BMI (kg/m²)	28.72±3.94	26.64±4.15	<0.05

		HTG	Controls	p-value
APOA5 c.56C>G n (%)	CC	102 (78.5)	115 (85.8)	0.286
	CG	26 (20.0)	18 (13.4)
	GG	2 (1.5)	1 (0.8)
Allele frequencies C/G		0.88/0.12	0.93/0.07	0.11
APOA5 −1131T>C n (%)	TT	62 (79.5)	43 (71.7)	0.536
	TC	13 (16.7)	13 (21.7)
	CC	3 (3.8)	4 (6.7)
Allele frequencies T/C		0.88/0.12	0.82/0.18	0.21
APOA5 c.553G>T n (%)	GG	132 (99.2)	135 (100)	0.496
	GT	1 (0.8)	0 (–)
	TT	0 (–)	0 (–)
Allele frequencies G/T		0.992/0.008	1/0	^* * Not available.
APOC3 −482C>T n (%)	CC	44 (33.8)	66 (49.3)	0.035
	CT	72 (55.4)	59 (44.0)
	TT	14 (10.8)	9 (6.7)
Allele frequencies C/T		0.62/0.38	0.71/0.29	0.018
APOC3 SstI n (%)	CC	68 (59.6)	84 (73.7)	0.028
	CG	44 (38.6)	30 (26.3)
	GG	2 (1.8)	0 (–)
Allele frequencies C/G		0.79/0.21	0.87/0.13	0.025

Additive model
Genotype		Unadjusted		Adjusted^a a Adjusted for age, gender, and BMI.
Genotype		OR (95%CI)	p-value	OR (95%CI)	p-value
APOA5 c.56C>G	CC	1		1
	CG	1.629 (0.844–3.143)	0.15	1.655 (0.824–3.324)	0.16
	GG	2.255 (0.201–25.237)	0.51	2.012 (0.1 79–22.629)	0.57
APOA5 −1131T>C	TT	1		1
	TC	0.694 (0.293–1.642)	0.4	0.745 (0.285–1.944)	0.55
	CC	0.520 (0.111–2.443)	0.41	0.371 (0.060–2.305)	0.29
APOA5 c.553G>T	GG	1		1
	GT	^* * Since there was only one heterozygote and no homozygous polymorphic genotype in both HTG and control groups, the p-value cannot be calculated. Bold indicates statistically significant p-values.	^* * Since there was only one heterozygote and no homozygous polymorphic genotype in both HTG and control groups, the p-value cannot be calculated. Bold indicates statistically significant p-values.	^* * Since there was only one heterozygote and no homozygous polymorphic genotype in both HTG and control groups, the p-value cannot be calculated. Bold indicates statistically significant p-values.	^* * Since there was only one heterozygote and no homozygous polymorphic genotype in both HTG and control groups, the p-value cannot be calculated. Bold indicates statistically significant p-values.
	TT	^* * Since there was only one heterozygote and no homozygous polymorphic genotype in both HTG and control groups, the p-value cannot be calculated. Bold indicates statistically significant p-values.	^* * Since there was only one heterozygote and no homozygous polymorphic genotype in both HTG and control groups, the p-value cannot be calculated. Bold indicates statistically significant p-values.	^* * Since there was only one heterozygote and no homozygous polymorphic genotype in both HTG and control groups, the p-value cannot be calculated. Bold indicates statistically significant p-values.	^* * Since there was only one heterozygote and no homozygous polymorphic genotype in both HTG and control groups, the p-value cannot be calculated. Bold indicates statistically significant p-values.
APOC3 −482C>T	CC	1		1
	CT	1.831 (1.095–3.060)	0.02	2.065 (1.187–3.592)	0.01
	TT	2.333 (0.930–5.856)	0.07	1.982 (0.751–5.231)	0.17
APOC3 SstI	CC	1		1
	CG	1.812 (1.031–3.183)	0.04	1.768 (0.972–3.215)	0.06
	GG	^* * Since there was only one heterozygote and no homozygous polymorphic genotype in both HTG and control groups, the p-value cannot be calculated. Bold indicates statistically significant p-values.	^* * Since there was only one heterozygote and no homozygous polymorphic genotype in both HTG and control groups, the p-value cannot be calculated. Bold indicates statistically significant p-values.	^* * Since there was only one heterozygote and no homozygous polymorphic genotype in both HTG and control groups, the p-value cannot be calculated. Bold indicates statistically significant p-values.	^* * Since there was only one heterozygote and no homozygous polymorphic genotype in both HTG and control groups, the p-value cannot be calculated. Bold indicates statistically significant p-values.
Dominant model
Genotype		Unadjusted		Adjusted ^a a Adjusted for age, gender, and BMI.
Genotype		OR (95%CI)	p-value	OR (95%CI)	p-value
APOA5 c.56C>G	CC	1		1
APOA5 c.56C>G	CG+GG	1.662 (0.876–3.153)	0.12	1.678 (0.853–3.301)	0.13
APOA5 −1131T>C	TT	1		1
APOA5 −1131T>C	TC+CC	0.653 (0.298–1.432)	0.29	0.648 (0.269–1.559)	0.33
APOA5 c.553G>T	GG	1		1
APOA5 c.553G>T	GT+TT	^* * Since there was only one heterozygote and no homozygous polymorphic genotype in both HTG and control groups, the p-value cannot be calculated. Bold indicates statistically significant p-values.	^* * Since there was only one heterozygote and no homozygous polymorphic genotype in both HTG and control groups, the p-value cannot be calculated. Bold indicates statistically significant p-values.	^* * Since there was only one heterozygote and no homozygous polymorphic genotype in both HTG and control groups, the p-value cannot be calculated. Bold indicates statistically significant p-values.	^* * Since there was only one heterozygote and no homozygous polymorphic genotype in both HTG and control groups, the p-value cannot be calculated. Bold indicates statistically significant p-values.
APOC3 −482C>T	CC	1		1
APOC3 −482C>T	CT+TT	1.897 (1.154–3.117)	0.01	2.052 (1.205–3.494)	0.01
APOC3 SstI	CC	1		1
APOC3 SstI	CG+GG	1.894 (1.082–3.317)	0.03	1.851 (1.022–3.352)	0.04

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[1] *Corresponding author: emretaskin@gmail.com