Abstract
Factor XIII (FXIII) is a plasma transglutaminase that is essential for normal haemostasis and fibrinolysis. A few polymorphic sites have been identified in the gene, one of them being a point mutation (V34L) in exon 2 of the FXIIIa subunit gene leading to an amino acid change of valine to leucine. We have examined the role of this polymorphism in relation to plasma FXIII activity in a total of 532 healthy individuals belonging to two ethnic groups in Singapore. The frequency of the L34 allele was significantly higher (P<0.001) among the Asian Indians (0.08) when compared with the Chinese (0.005). No significant difference in frequency of the L34 allele was observed between Asian Indian CAD patients and controls. The mean FXIII levels were significantly higher (P<0.0005) among the Asian Indians (148.4%±35.5) when compared with Chinese (111.2%±26.7). The L34 variant was associated with increased FXIII activity among Asian Indian females. This study shows that both racial and genetic components play a significant role in determining plasma FXIII activity. The effect of V34L polymorphism on FXIII activity in the Indian females is independent of the effects of the P564L and E651Q polymorphic sites in the FXIIIa gene.
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Acknowledgements
This research was supported, in part, by the Agency for Science, Technology and Research, Singapore (NSTB EMT/00/022/CADRA) and the US National Heart, Lung, and Blood Institute grants HL54900, HL70169 and HL74165.
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C.-K. Heng and S. Lal contributed equally to this work
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Heng, CK., Lal, S., Saha, N. et al. The impact of factor XIIIa V34L polymorphism on plasma factor XIII activity in the Chinese and Asian Indians from Singapore. Hum Genet 114, 186–191 (2004). https://doi.org/10.1007/s00439-003-1040-3
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DOI: https://doi.org/10.1007/s00439-003-1040-3