Genetic polymorphism of coagulation factor XIII

Board, P.G.

doi:10.1016/s0031-3025(16)38587-7

Cited by 19 publications

(36 citation statements)

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“…However, an indication may be obtained from the numerous electrophoretic studies of the locus. 5,8,34,35 Different separation methods (agarose electrophoresis, isoelectrophoretic focussing and combinations thereof) have been used, but all show allele 1 -3 heterozygotes, which are recognizably distinct from allele-3 homozygotes. This would tentatively suggest that allele-3 homozygotes probably do not produce much, if any, of the allele-1 protein product.…”

Section: Discussionmentioning

confidence: 99%

“…3,4 Genetic variation at the F13B locus was first demonstrated using protein electrophoresis through non-denaturing gels, which resolved three common alleles. 5 Later work cast doubt on the existence of three alleles at the locus, 6,7 but these were later resolved, with the difficulties due, in part, to the rarity of one of the common alleles (allele-2) in the Japanese population. 8 The protein polymorphism shows considerable geographic differentiation, with alleles 1, 2, and 3 being the most common alleles (460%) in populations of European, African, and Asian descent, respectively.…”

Section: Introductionmentioning

confidence: 99%

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Natural selection and the molecular basis of electrophoretic variation at the coagulation F13B locus

et al. 2008

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Electrophoretic analysis of protein variation at the coagulation F13B locus has previously revealed three alleles, with alleles 1, 2, and 3 each being at high frequency in European, African, and Asian populations, respectively. To determine if this unusual pattern of interpopulation differentiation reflects local natural selection or neutral genetic drift, we re-sequenced 4.6 kb of the gene, encompassing all exons, splice junctions, and 1.4 kb of the promoter, in African, European, and Asian samples. These analyses revealed three major lineages, which correspond to the common protein alleles and differ from each other at a nonsynonymous substitution in exon 3 and a novel splice acceptor in intron K. There is previous evidence that these lineages are not functionally equivalent; we therefore carried out case -control analyses and confirmed that variability at F13B modulates susceptibility and/or survivorship in coronary artery disease (Po0.05) and type II diabetes within the coronary artery disease cohort (Po0.01). Tajima's D and Fu and Li's tests did not indicate significant departures from neutral expectations. However, publicly available data from SeattleSNPs and HapMap do indicate highly unusual levels of population differentiation (P ¼ 0.003) and an excess of allele-specific, extended haplotype homozygosity within the African population (P ¼ 0.0125). Possible causes of this putative signal of selection include hematophagous organisms, infection by pathogens that cause disseminated intravascular coagulation, and metabolic or dietary factors.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Natural selection and the molecular basis of electrophoretic variation at the coagulation F13B locus

et al. 2008

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“…122 The noncoding region of the B-subunit gene contains a polymorphic human specific-1 Alu insertion. 123 In contrast to the factor XIII A-subunit polymorphisms, the molecular basis of the 3 most common B-subunit alleles has not been elucidated.…”

Section: Polymorphisms Of the Factor XIII B-subunit Genementioning

confidence: 99%

Role of factor XIII in fibrin clot formation and effects of genetic polymorphisms

Ariëns

Lai

Weisel

et al. 2002

Blood

325

272

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Factor XIII and fibrinogen are unusual among clotting factors in that neither is a serine protease. Fibrin is the main protein constituent of the blood clot, which is stabilized by factor XIIIa through an amide or isopeptide bond that ligates adjacent fibrin monomers. Many of the structural and functional features of factor XIII and fibrin(ogen) have been elucidated by protein and gene analysis, site-directed mutagenesis, and x-ray crystallography. However, some of the molecular aspects involved in the complex processes of insoluble fibrin formation in vivo and in vitro remain unresolved. The findings of a relationship between fibrinogen, factor XIII, and cardiovascular or other thrombotic disorders have focused much attention on these 2 proteins. Of particular interest are associations between common variations in the genes of factor XIII and altered risk profiles for thrombosis. Although there is much debate regarding these observations, the implications for our understanding of clot formation and therapeutic intervention may be of major importance. In this review, we have summarized recent findings on the structure and function of factor XIII. This is followed by a review of the effects of genetic polymorphisms on protein structure/function and their relationship to disease. (Blood. 2002;100:743-754)

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“…Three common phenotypes were observed, which corresponded to the types 1, 1-3 and 3 reported by Board (1980) in Australians. The estimated allele frequencies of F13B*I and F13B*3 were 0.303 and 0.697, respectively.…”

Section: Discussionmentioning

confidence: 70%

Genetic polymorphism of the B subunit of human coagulation factor XIII in Japanese

Nishigaki

Omoto

1982

Jap J Human Genet

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SummaryPolymorphism of the B subunit of human coagulation factor XIII was investigated in a total of 119 plasma samples from unrelated adult Japanese using agarose gel electrophoresis followed by immunofixation. Three common phenotypes were observed, which corresponded to the types 1, 1-3 and 3 reported by Board (1980) in Australians. The estimated allele frequencies of F13B*I and F13B*3 were 0.303 and 0.697, respectively. The observed numbers of the phenotypes were in good agreement with those expected on the basis of Hardy-Weinberg's law. These results are not inconsistent with the hypothesis that these phenotypes are controlled by a pair of autosomal, codominant alleles.

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Genetic polymorphism of coagulation factor XIII

Cited by 19 publications

References 0 publications

Natural selection and the molecular basis of electrophoretic variation at the coagulation F13B locus

Natural selection and the molecular basis of electrophoretic variation at the coagulation F13B locus

Role of factor XIII in fibrin clot formation and effects of genetic polymorphisms

Genetic polymorphism of the B subunit of human coagulation factor XIII in Japanese

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