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 mineral density and osteoporosis.


METHODS
Genes selected were the vitamin D receptor (Apa I and Taq I polymorphisms) and collagen (Sp I transcription factor polymorphism) using standard molecular biology techniques.


METHODS
Department of Chemical Pathology, Nelson R Mandela School of Medicine, University of Natal, Durban, South Africa.


METHODS
Healthy male and female blood donors living in the Durban metropolitan region, South Africa. The group comprised black Africans (n=264), white Caucasians (n=247) and Asians of Indian origin (n=194).


RESULTS
No significant differences in genotypes were seen between 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 I genotype. No ss genotype was detected in blacks.


CONCLUSIONS
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 incidence of osteoporosis in this ethnic group.
Ojwang
P J
PJ
School of Pathology and Laboratory Medicine, Department of Chemical Pathology, Nelson R Mandela School of Medicine University of Natal, Durban, South Africa.
Pegoraro
R J
RJ
Rom
L
L
Lanning
P
P
D044383:Black People / Q000235:genetics*; D024042:Collagen Type I / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007194:India / Q000208:ethnology; D008297:Male; D010024:Osteoporosis / Q000235:genetics*; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D013019:South Africa; D044465:White People / Q000235:genetics*
D024042:Collagen Type I; D018167:Receptors, Calcitriol