Genetic diversity of blood group antigen, HNA, HPA, HFE, cytokine and HLA-G variants among Malays, Chinese and Indians in peninsular Malaysia

• Main Author: Ghazali, Norul Hajar Che
• Format: Thesis
• Language: English
• Published: 2025
• Subjects: R Medicine; RA Public aspects of medicine
• Online Access: http://eprints.usm.my/62834/

Genetic variations in blood group, human platelet antigen (HPA), human neutrophil antigen (HNA), cytokine, hemochromatosis (HFE) and human leukocyte antigen (HLA) are uniquely distributed across human population groups. Several of these are important markers for tissue compatibility and diseases susceptibility. Thus, the present study was conducted with the aim of assessing blood group antigens, HPA, HNA, cytokine and HLA-G polymorphisms in Malays, Chinese and Indians in Peninsular Malaysia (PM) and use as population datasets reference for ancestry and health assessments. Several blood group (e.g., ABO type O, DCCee, MNS and Fya+b-), HPA (e.g., HPA-1a/a, -3a/b and -4a/a), HNA (e.g., HNA-1a/a, - 3a/b and -4a/a) and HFE (e.g., H63D-S65C-C282Y) were generally found to be the most common in Malays, Chinese and Indians. However, clear differences on genotype frequency distributions between Malays, Chinese and Indians were recorded for other minor blood groups systems (e.g., Kidd and Dombrock), cytokine single nucleotide polymorphisms (SNPs) (e.g., IL-1Rpst11970C/T) and HLA-G alleles (e.g., G*01:01:01:01/01:01:01:01 and G*01:01:03:01/01:01:01:01). Homogeneity tests showed several significant differences between Malays, Chinese, Indians and datasets for other Malaysian populations that were reported earlier. Distinctions between ancestrally unrelated population groups in Malaysia can also be seen in the principal component/coordinate analyses plots and neighbor-joining trees. These observations are associated with their different origins and population histories. The population genetic datasets collected from the present and earlier studies not only enrich the contemporary view of genetic diversity in PM, but also offer significant potential benefits for health practitioners, researchers and policy makers. In PM, alloimmunization risks due to transfusion and gestation incompatibility are potentially associated with ABO, MNS, Kidd, Rhesus, Kell, Duffy, HPA-3, HPA-15, HNA-1, HNA-3 and HNA-15 antigens. Therefore, HPA, HNA and together with extended blood group typing (i.e., beyond the regular screening of ABO and RhD) typing could be implemented to reduce potential risks of transfusion and gestation alloimmunization in PM. Several cytokine gene SNPs have been identified as risk factors for disease susceptibility and were observed to distribute differently between population groups in PM. These include for IL1RA mspa1 11100C/T and IL-1R pst1 1970T/C which could contribute to different disease incidence between population groups. However, other pathogenic variants within HFE (e.g., C282Y) and HLA-G (G*01:01:01:01, 01:05N and G*01:06) were not detected either in Malays, Chinese and Indians. In conclusion, this study provides extensive and comprehensive population datasets for the Malays, Chinese and Indians. These findings contribute to a better understanding of genetic diversity and health risk profiles in PM as well as offering value data for future ancestral and disease analyses.