PubMed · 13627005
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K R BLESSING. 1959. The middle range mongoloid in trainable classes.. https://pubmed.ncbi.nlm.nih.gov/13627005/
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The relationship of HLA phenotype and outcome of hepatitis B virus (HBV) infection was studied in two ethnic groups of Taiwan: Han Chinese and Taiwanese Aborigines. In Han Chinese, the study groups consisted of 98 persons who tested both hepatitis B surface antigen (HBsAg) and anti-HBs negative (Uninfected Group), 324 persons who tested HBsAg negative and both anti-HBs and anti-HBc positive (Recovered Group), and 98 patients who tested HBsAg positive for at least 6 months (Chronically Infected Group). In Taiwanese Aborigines, the study groups consisted of 34 persons in Uninfected Group, 229 persons in the Recovered Group, and 138 patients in the Chronically Infected Group. All subjects were tested for HLA (A, B, DRB1) phenotypes by sequence-specific oligonucleotide probe hybridization (SSOPH). HLA-DR*0406 was significantly more frequent in the Recovered Group, compared with the Chronically Infected Group (P < 0.001) in Han Chinese. There was a significant excess of HLA-B*4001 (P = 0.045) in the Recovered Group, compared with the Chronically Infected Group in Taiwanese Aborigines. The observation that different HLA phenotypes associated with recovery from HBV infection in different racial groups implies that various HLA molecules could present different HBV epitopes to induce effective immune responses.
BACKGROUND: Hirschsprung disease (HSCR) is a congenital disorder characterized by an absence of ganglion cells in the nerve plexuses of the lower digestive tract. HSCR has a complex pattern of inheritance and is sometimes associated with mutations in genes of the receptor tyrosine kinase (RET) and endothelin receptor B (EDNRB) signaling pathways, which are crucial for development of the enteric nervous system. METHODS: Using PCR amplification and direct sequencing, we screened for mutations and polymorphisms in the coding regions and intron/exon boundaries of the RET, GDNF, EDNRB, and EDN3 genes of 84 HSCR patients and 96 ethnically matched controls. RESULTS: We identified 10 novel and 2 previously described mutations in RET, and 4 and 2 novel mutations in EDNRB and in EDN3, respectively. Potential disease-causing mutations were detected in 24% of the patients. The overall mutation rate was 41% in females and 19% in males (P = 0.06). RET mutations occurred in 19% of the patients. R114H in RET was the most prevalent mutation, representing 7% of the patients or 37% of the patients with RET mutations. To date, such a high frequency of a single mutation has never been reported in unrelated HSCR patients. Mutations in EDNRB, EDN3, and GDNF were found in four, two, and none of the patients, respectively. Two patients with mutations in genes of the EDNRB pathway also harbored a mutation in RET. Three novel and three reported polymorphisms were found in EDNRB, EDN3, and GDNF. CONCLUSION: This study identifies additional HSCR disease-causing mutations, some peculiar to the Chinese population, and represents the first comprehensive genetic analysis of sporadic HSCR disease in Chinese.
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.