Collagen Ialpha1 and vitamin D receptor gene polymorphisms in South African whites, blacks and Indians.

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.