| Summary: | 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.
|
|---|
