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Population-based differences in frequency of the transcobalamin II Pro259Arg polymorphism
Raffick A R Bowen1, Betty Y L Wong, David E C Cole
1Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada M5G 1L5.
Clinical Biochemistry
|January 17, 2004
Summary
The frequency of the transcobalamin II (TC-II) Pro259Arg gene variant significantly differs across ethnic groups. This genetic variation may contribute to ethnic differences in vitamin B12 metabolism and deficiency risk.
Area of Science:
- Genetics
- Nutritional Biochemistry
- Population Health
Background:
- The transcobalamin II (TC-II) gene plays a crucial role in vitamin B12 metabolism.
- A common polymorphism, Pro259Arg, has been suggested to influence vitamin B12 levels.
- Ethnic variations in vitamin B12 metabolism are well-documented.
Purpose of the Study:
- To investigate the prevalence of the TC-II Pro259Arg polymorphism in Caucasian, Asian, and African-American populations.
- To determine if significant differences exist in the frequency of this polymorphism among these ethnic groups.
Main Methods:
- Genomic DNA samples were collected from 187 Caucasians, 43 Asians, and 51 African-Americans.
- A mutagenically separated PCR method was utilized for genotyping the TC-II Pro259Arg polymorphism (776C-->G).
Main Results:
- The frequency of the Arg259 allele varied significantly among the three ethnic groups (P = 0.022).
- Asian individuals exhibited a higher frequency of the Arg259 allele compared to Caucasians (P = 0.030) and African-Americans (P = 0.006).
- No significant difference in Arg259 allele frequency was observed between Caucasian and African-American groups (P = 0.103).
Conclusions:
- Significant population-based differences in TC-II Pro259Arg allele frequency exist across ethnic groups.
- These genetic variations may contribute to ethnic disparities in susceptibility to vitamin B12 deficiency.
- Understanding these ethnic variations is important for addressing vitamin B12 deficiency globally.