Identification of RPL5 gene variants and the risk of hepatic vein thrombosis in Saudi patients

Article Figures & Data

Table 1

- Characteristics of the hepatic vein thrombosis (HVT) Saudi patients included in this study.

Characteristic	HVT cases (n=65)	Controls (n=50)	P-value*
Age (years) (mean±SD)	47.2±3.1	43.5±2.6	0.0001*
Gender (%)
Male	46 (70.7)	32 (64.0)	0.5463†
Female	19 (29.3)	18 (36.0)
Family history of HVT (%)
Yes	13 (20.0)
No	52 (80.0)

Table 2

- Nonsynonymous single nucleotide variants in the RPL5 genes.

Variants	Substitution	Transcript ID	db SNP (b153 v2)	Variation type	1000 genomes allele frequency	Position
rs138979590	G>C G>T	NG_011779.2	Novel	SNV, intron	not present	chr1:92833927
rs558220259	A>G	NG_011779.2	Novel	SNV, intron	not present	chr1:92833948
rs576892621	A>G	NG_011779.2	Novel	SNV, intron	not present	chr1:92833969
rs182018447	G>A	NG_011779.2	Novel	SNV, intron	not present	chr1:92834024
rs559377519	A>T	NG_011779.2	Novel	SNV, intron	not present	chr1:92834047

Ch1: chromosome 1, SNV: single nucleotide variant, SNP: single nucleotide polymorphism.

Table 3

- Allele frequency of the RPL5 genetic polymorphisms in hepatic vein thrombosis (HVT) patients compared with the control subjects.

db SNP b153 v 2	Alleles	Patients	Control	P-value*	Unadjusted OR [95% CI]
rs138979590	G	224 (87.3)	198 (87.6)		Reference
	C	26 (9.1)	16 (7.1)	0.350	1.44 [0.75-2.76]
	T	36(12.6)	12(5.3)	0.006*	2.65 [1.34-5.24]
rs558220259	A	221 (77.3)	183 (80.9)	0.362	Reference
rs558220259	G	65 (22.7)	43 (19.1)		1.25 [0.81-1.93]
rs576892621	A	233 (81.5)	189 (83.6)	0.603	Reference
rs576892621	G	53 (18.5)	37 (16.3)		1.16 [0.73-1.84]
rs182018447	G	229 (80.1)	201 (88.9)	0.009*	Reference
rs182018447	A	57 (19.9)	25 (11.1)		2.00 [1.23-3.32]
rs559377519	A	238 (83.2)	202 (89.4)	0.032*	Reference
rs559377519	T	48 (16.8)	24 (10.6)		1.73 [1.02-2.92]

↵Values are presented as number and percentage (%).
* P-values were calculated by chi-square analyses. differences were statistically significant at p<0.05.
↵OR: odds ratio, CI: confidence interval. Single-variant association analyses was performed.

Table 4

- Analysis of frequency of RPL5 genotype polymorphisms and HVT risk.

db SNP b153 v2	Genotype	Patients	Control	P-value*	Unadjusted OR [95% CI]
n (%)
rs138979590	G/C	250 (24.5)	214 (25.2)		Reference
	G/T	260 (25.5)	210 (24.8)	0.708	1.06 [0.81-1.37]
	G/C+G/T	510 (50.0)	424 (50.5)	0.842	1.03 [0.82-1.29]
rs558220259	A/A	442 (61.7)	366 (64.8)		Reference
	A/G	144 (20.1)	113 (20.0)	0.764	1.06 [0.79-1.39]
	G/G	130 (18.2)	86 (15.2)	0.173	1.25 [0.92-1.7]
rs576892621	A/A	466 (65.2)	378 (67.0)		Reference
	A/G	143 (20.0)	112 (19.9)	0.862	1.04 [0.78-1.37]
	G/G	106 (14.8)	74 (13.1)	0.413	1.16 [0.84-1.61]
rs182018447	G/G	458 (64.1)	402 (71.2)		Reference
	G/A	142 (19.9)	113 (20.0)	0.543	1.10 [0.83-1.46]
	A/A	114 (16.0)	50 (8.8)	0.000*	2.00 [1.39-2.86]
rs559377519	A/A	486 (63.7)	404 (71.5)		Reference
	A/T	148 (19.4)	113 (20.0)	0.549	1.08 [0.82-1.43]
	T/T	98 (12.9)	48 (8.5)	0.004*	1.69 [1.17-2.45]

* P-values were calculated by chi-square analyses; differences were statistically significant at p<0.05. OR: odds ratio, CI: confidence interval, HVT: hepatic vein thrombosis. Single-variant association analyses was performed.