alpha1-Antitrypsin variants in different racial groups in Malaysia

Area of Science:

• Genetics
• Population Health
• Biochemistry

Background:

• Protease inhibitor (Pi) types are important genetic markers.
• Understanding Pi type distribution across different ethnic groups is crucial for population genetics and health studies.

Purpose of the Study:

• To determine the gene frequencies of protease inhibitor (Pi) alleles (PiM, PiS, PiX) in Malaysian populations of Malay, Chinese, and Indian descent.
• To investigate the prevalence of the PiX allele, particularly in the Malay population.

Main Methods:

• Analysis of 1,510 serum samples from Malaysians (908 Malays, 371 Chinese, 231 Indians).
• Identification of protease inhibitor (Pi) types and calculation of allele gene frequencies for PiM, PiS, and PiX.

Main Results:

• Gene frequencies for PiM, PiS, and PiX in Malays were 0.979, 0.015, and 0.007, respectively.
• Chinese exhibited frequencies of 0.981, 0.019, and 0.000.
• Indian frequencies were 0.976, 0.24, and 0.000.
• The PiX type was found in appreciable frequency in Malays, which is noteworthy as it is usually rare.

Conclusions:

• The study identified significant variations in protease inhibitor (Pi) gene frequencies among Malaysian ethnic groups.
• The appreciable frequency of the PiX allele in Malays is a key finding, suggesting unique population genetics.
• Two unusual protease inhibitor (Pi) types with unclear origins were also detected, warranting further investigation.