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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. [ABSTRACT FROM AUTHOR]

Background Oxygen free radicals such as superoxide anion have been implicated in the pathogenesis of atherosclerosis and coronary heart disease (CHD). The nonglycosylated 22 kDa α-subunit of the NADH/NADPH oxidase (p22 phox) of the vasculature acts as the final electron transporter in the generation of superoxide anion. Recently, a common polymorphism (C242T) at codon 72 in the p22 phox gene has been reported to be associated with CHD risk. Study design We examined the role of the C242T polymorphism with the risk of CHD in a biracial sample of Asian Indians and Chinese from Singapore. The sample comprised angiographically confirmed CHD patients (126 Asian Indians and 151 Chinese) and age- and sex-matched healthy control subjects (154 Asian Indians and 167 Chinese). Results The frequency of the T allele was significantly higher in Asian Indian control subjects than in Chinese control subjects (0.38 vs. 0.09; P < 0.0001). However, there was no difference in the frequency of this allele between case patients and control subjects either in Chinese (0.10 vs. 0.09) or Asian Indians (0.38 vs. 0.40). This polymorphism was also not associated with plasma lipid and apolipoprotein levels in any group. Conclusions The p22 phox codon 72 polymorphism is not associated with the risk of CHD in the present samples of Asian Indians and Chinese. [ABSTRACT FROM AUTHOR]

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.