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Prevalence of common hereditary risk factors for thrombophilia in Somalia and identification of a novel Gln544Arg mutation in coagulation factor V
East Africa University, Somalia.
Linköpings universitet, Institutionen för klinisk och experimentell medicin, Avdelningen för mikrobiologi och molekylär medicin. Linköpings universitet, Medicinska fakulteten. Region Östergötland, Diagnostikcentrum, Klinisk kemi.
2017 (Engelska)Ingår i: Journal of Thrombosis and Thrombolysis, ISSN 0929-5305, E-ISSN 1573-742X, Vol. 44, nr 4, s. 536-543Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Thrombophilia, commonly manifested as venous thromboembolism (VTE), is a worldwide concern but little is known on its genetic epidemiology in many parts of the globe particularly in the developing countries. Here we employed TaqMan genotyping and pyrosequencing to evaluate the prevalence of known common nucleotide polymorphisms associated with thrombophilia in a Somali population in the Puntland region of Somalia. We also employed next generation sequencing (NGS) to investigate other genetic variants in a Somali patient with deep venous thrombosis (DVT). As expected, we found no existence of factor V Leiden (rs6025) and prothrombin G20210A (rs1799963) in the Somali population. The G allele of ABO [261G/delG] polymorphism (rs8176719) was found at a frequency of 29%, similar to that observed in other African populations. We found the lowest so far reported frequency of MTHFR C677T (rs1801133) polymorphism in the Somali population (T allele frequency 1.5%). A novel and deleterious single nucleotide variation in exon 11 of coagulation factor V (c.1631A amp;gt; G) causing Gln544Arg exchange in factor V was identified in a 29 years old Somali female with DVT. The same patient was heterozygous to VKORC1 Asp36Tyr polymorphism (rs61742245) that predisposes to warfarin resistance. In conclusion, this study shows that common hereditary factors for thromboembolism found in Caucasians are either less frequent or absent in the Somali population-similar to the situation in other Africans. NGS is possibly a better choice to detect genetic risk variants for thrombosis in this ethnic group.

Ort, förlag, år, upplaga, sidor
SPRINGER , 2017. Vol. 44, nr 4, s. 536-543
Nyckelord [en]
Genotype; Alleles; Venous thrombosis; ABO Blood-Group System; Factor V Leiden; Prothrombin
Nationell ämneskategori
Hematologi
Identifikatorer
URN: urn:nbn:se:liu:diva-143083DOI: 10.1007/s11239-017-1543-8ISI: 000414032300017PubMedID: 28889200OAI: oai:DiVA.org:liu-143083DiVA, id: diva2:1159434
Anmärkning

Funding Agencies|County Council of Ostergotland, Sweden

Tillgänglig från: 2017-11-22 Skapad: 2017-11-22 Senast uppdaterad: 2018-01-05

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