Abstract
A number of single nucleotide polymorphisms (SNPs) have been linked to higher risk of venous
thrombosis (VT) [9]. Well-known genetic risk factors F5 rs6025 mutation is present in about 30% of VT
cases [27]. Several studies found that patients with chronic venous ulcers have an increased prevalence of
thrombophilia (44–75%) [4]. Risk alleles have not been investigated in patients with vein disease in Latvia.
The aim of the study was to investigate VT and chronic vein insufficiency (CVI) risk alleles (RA) in
F5 (rs6025), F2 (rs1799963), SELE (rs5361), SERPINC1 (rs2227589), FGG (rs20066865), CYP4V2 (rs13146272),
F11 (rs2289252), GP6 (rs1613662) genes in Latvia.
The data were collected from 141 patients (52 with VT and 89 with CVI C3–C6 stage). Control
group – 235 persons. Control group – 110 men and 125 women, mean age 53.1 ± 14.1, BMI – 28.12 ± 4.96.
Genotyping was performed using an Applied Biosystems TaqMan SNP Genotyping Assay after manufacturer’s protocol on ViiA™ 7 Real-Time PCR System (Biosystems TaqMan SNP Genotyping Assay).
Diagnostics was based on the clinic and duplex ultrasound date (Philips Sparq, 2012). Statistical analysis
was carried out in Plink 1.06 software. The additive model of inheritance was used in logistic regression
for each SNP adjusting for sex, age, body mass index (BMI).
From 52 VT patients, 32 were women (62%) and 20 men (38%), mean age 59.9 ± 15.2, BMI 32.4 ± 26.2.
From 89 CVI patients, 17 (19%) men and 72 (91%) women, mean age 51.1 ± 17.5, BMI 26.9 ± 5.74.
The F5 (rs6025) gene allele was associated with higher VT risk (p = 0.017, OR = 4.37). Allele in gene
F11 (rs2289252) was significantly associated with HVI C6 stage (p = 0.028, OR = 1.65). Allele in
genes SERPINC1 (rs2227589), FGG (rs20066865), F11 (rs2289252) showed association with VT, and
in combination of VT with CVI.
Allele in gene F11 (rs2289252) is considered as risk allele in patients with of HVM C6 stage
thrombosis (VT) [9]. Well-known genetic risk factors F5 rs6025 mutation is present in about 30% of VT
cases [27]. Several studies found that patients with chronic venous ulcers have an increased prevalence of
thrombophilia (44–75%) [4]. Risk alleles have not been investigated in patients with vein disease in Latvia.
The aim of the study was to investigate VT and chronic vein insufficiency (CVI) risk alleles (RA) in
F5 (rs6025), F2 (rs1799963), SELE (rs5361), SERPINC1 (rs2227589), FGG (rs20066865), CYP4V2 (rs13146272),
F11 (rs2289252), GP6 (rs1613662) genes in Latvia.
The data were collected from 141 patients (52 with VT and 89 with CVI C3–C6 stage). Control
group – 235 persons. Control group – 110 men and 125 women, mean age 53.1 ± 14.1, BMI – 28.12 ± 4.96.
Genotyping was performed using an Applied Biosystems TaqMan SNP Genotyping Assay after manufacturer’s protocol on ViiA™ 7 Real-Time PCR System (Biosystems TaqMan SNP Genotyping Assay).
Diagnostics was based on the clinic and duplex ultrasound date (Philips Sparq, 2012). Statistical analysis
was carried out in Plink 1.06 software. The additive model of inheritance was used in logistic regression
for each SNP adjusting for sex, age, body mass index (BMI).
From 52 VT patients, 32 were women (62%) and 20 men (38%), mean age 59.9 ± 15.2, BMI 32.4 ± 26.2.
From 89 CVI patients, 17 (19%) men and 72 (91%) women, mean age 51.1 ± 17.5, BMI 26.9 ± 5.74.
The F5 (rs6025) gene allele was associated with higher VT risk (p = 0.017, OR = 4.37). Allele in gene
F11 (rs2289252) was significantly associated with HVI C6 stage (p = 0.028, OR = 1.65). Allele in
genes SERPINC1 (rs2227589), FGG (rs20066865), F11 (rs2289252) showed association with VT, and
in combination of VT with CVI.
Allele in gene F11 (rs2289252) is considered as risk allele in patients with of HVM C6 stage
| Translated title of the contribution | Risk Alleles Analysis in Patients with Vein Thrombosis and Chronic Venous Insufficiency in Latvia |
|---|---|
| Original language | Latvian |
| Title of host publication | Rīgas Stradiņa universitātes Zinātniskie raksti |
| Subtitle of host publication | 2015. gada medicīnas nozares pētnieciskā darba publikācijas |
| Place of Publication | Rīga |
| Publisher | Rīgas Stradiņa universitāte |
| Pages | 327-335 |
| ISBN (Print) | 978-9984-793-83-2 |
| Publication status | Published - 2016 |
Publication series
| Name | RSU Zinātniskie Raksti |
|---|---|
| ISSN (Print) | 1407-9453 |
Keywords*
- risk allele
- single nucleotide polymorphisms
- vein thrombosis
- deep vein thrombosis
- trophic leg ulcer
- SNP
- thrombophilia.
Field of Science*
- 3.2 Clinical medicine
Publication Type*
- 3.2. Articles or chapters in other proceedings other than those included in 3.1., with an ISBN or ISSN code