COLLAGEN Ial AND VITAMIN D RECEPTOR GENE POL3MORPHISMS IN SOUTH AFRICAN WHITES, BLACKS AND INDIANS

Abstract

Objective: To determine whether polymorphic differences exist between black, white and
Indian South Africans in genes associated with bone miner id density and osteoporosis.
Design: Genes selected were the vitamin D receptor (Apa I and Taq I polymorpbisms) and
collagen (Sp I transcription factor polymorphism) using standard molecular biology
techniques.
Setting: Department of Chemical Pathology, Nelson RMande aSchool of Mediiine,University
of Natal, Durban, South Africa.
Subjects: Healthy male and female blood donors living in tt e Durban metropolitan region,
South Africa. The group comprised black Africans (n=264) white Caucasians (n=247) and
Asians of Indian origin (n=194).
Results: Nosignificant differences in genotypes were seen bet ween white and Indian subjects.
Blacks had a significantly higher frequency of the TT Taq I genotype and a significantly
lower frequency of the Ss Sp 1 genotype. No ss genotype was detected in blacks.
Conclusion: The very Low frequency of the collagen Sp I s allele and higher frequency of the
VDR T allele in blacks may be associated with the lower ir cidence of osteoporosis in this
ethnic group.