Factor V Leiden mutation in Arabs in Kuwait by real-time PCR: different values for different Arabs

Abstract

Factor V Leiden (FVL) mutation (G1691A) is a risk factor for development of venous thromboembolic disorders. FVL was found mostly in Caucasians (1-15%) but was almost absent in non-Caucasians. Studies on Arab patients and populations revealed very inconsistent results. This study reports FVL in Arabs living in Kuwait with a focus on the nationality of the Arab subjects studied. Whole-blood samples were collected from 400 healthy Arabs who were 268 Kuwaitis (67%), 50 Syrians (12.5%), 34 Jordanians (8.5%), 8 Palestinians (2%) and 40 Egyptians (10%). DNA extraction was carried out for these blood samples and real-time PCR was performed to detect the presence of FVL. Generally, 36 cases (9%) had the mutation (33 were heterozygous and 3 were homozygous), with an allelic frequency of 0.049. The prevalence of FVL differed in different Arabic cases: Kuwaitis 4.5%, Egyptians 15%, Syrians 16%, Jordanians 23.5% and Palestinians 25%. The allelic frequency was 0.022 in the Kuwaitis and 0.088-0.132 in non-Kuwaitis. The three homozygous cases were from Syria, Jordan and Egypt. In conclusion, the prevalence of FVL in Arabs living in Kuwait is as high as in Caucasians. There is a difference in prevalence among Arabs themselves, being relatively lower in Kuwaitis than in non-Kuwaitis. Keywords: Arabs; factor V Leiden mutation; Kuwait; real-time PCR INTRODUCTIONIn 1994, a point mutation (G1691A) in the gene encoding for the human clotting cofactor V (FV) was discovered and called factor V Leiden mutation (FVL) after the Dutch city 'Leiden' where it was discovered. 1 In consequence to this genetic mutation, the translated FV molecule has an 'arginine' amino acid in place of the normal 'glutamine' at the amino-acid residue number 506 of the molecule (Arg506Gln). 1,2 This apparently simple point mutation was found to lead to a condition called activated protein C resistance, which causes, in carriers of the mutation, a serious clinical condition known as 'hypercoagulability' or 'thrombophilia' , which is very often manifested clinically as venous thromboembolic disorders (VTE). 3-6 VTE is a significant cause of morbidity and mortality in many countries, including Kuwait, with an annual incidence of 1 out of 1000. 3,4,7,8 Studies have shown that people with FVL had a higher risk of developing VTE (10-fold and 140-fold increased risk in heterozygous and homozygous carriers, respectively). 1,2,5,6,[9][10][11][12] Several studies were conducted worldwide to determine the prevalence and risk of FVL in different countries and ethnic groups. FVL was reported to be highly present in populations of Caucasian origin living in Europe, United States and Australia, with a prevalence of 15-65% among VTE patients and 1-15% in the normal populations studied. 1,4,6,7,[10][11][12][13][14][15][16][17][18][19][20] On the other hand, FVL was almost absent in other populations such as Africans, South-East Asians, Chinese, Japanese, American Indians, Greenland Eskimos and Aboriginals of Australia. 7,17,[20][21][22][23][24][25] In Kuwait, VTE is quite commo...

Prevalence of the Factor V Leiden Mutation Arg534Gln in Western Region of Saudi Arabia: Functional Alteration and Association Study With Different Populations

“…The prevalence of FVL has shown significant variations (5-27%) in different Arab countries. 19 Only few studies reported, the incidence of carriers of FVL in healthy individuals in Saudi Arabia is less than 2.0%. 20 In this study we were able to detect FVL mutation in 10% Saudi patients with deep vein thrombosis.…”

Factor V Leiden Mutation and Color of Skin in Arabs

“…Later on, several studies reported a noticeable percentage of Arabs to have the FVL, including studies by the authors of this paper [16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31]. No one knows for sure whether these Arab carriers of FVL have also come from the same Caucasian ancestor proposed to start the FVL as explained above.…”

Assessment of Factor V Gene G1691A Mutation (Factor V Leiden) among Chronic Hepatitis C Patients with Thrombocytopenia

“…Two labelled probes corresponding to the two genotypes under investigation were contained in the genotyping primer/probe mixture [30,31]. The probes involved were specifi ed as the following: one specifi c to the wildtype G1691 allele, labelled with fl uorescein amidites (FAM-labeled), and the other specifi c to the mutant A1691 allele, labelled with Victoria dye [2′-chloro-7′-phenyl-1,4-dichloro-6-carboxy-fluorescein] (VIC-labeled) [30,31]. The reaction mixture was placed in a 96-well PCR plate employing a 7500 Fast Real-Time PCR system (Applied Biosystems, CA, USA).…”

“…The reaction mixture was placed in a 96-well PCR plate employing a 7500 Fast Real-Time PCR system (Applied Biosystems, CA, USA). The overall PCR run involved three steps: fi rst, a pre-read run to record the background signal (at 60 °C for 2 minutes); second, an amplifi cation run, which started with one hold (at 50 °C for 2 minutes), followed by another hold (at 95 °C for 10 minutes), and proceeded with 40 cycles at alternative temperatures: 95 °C for 15 seconds, causing denaturation, and 60 °C for 1 minute, causing annealing and extension; fi nally, a post-read run to subtract amplifi ed signals from the background signal at 60 °C for 2 minutes [30].…”