[HTML][HTML] Association of interleukin-6 promoter variant with bone mineral density in pre-menopausal women
Journal of human genetics, 2003•nature.com
Abstract Interleukin-6 (IL6) has many roles essential to the regulation of the immune
response, hematopoiesis, and bone resorption. Three single-nucleotide polymorphisms
(SNP) in the IL6 promoter region were genotyped by the single-base extension method. The
frequencies of each SNP were 0.002 (IL6− 597 G→ A), 0.27 (IL6− 572 G→ C), and 0.002
(IL6− 174 G→ C) in a Korean population (n= 1,082). IL6− 597 G→ A and IL6− 174 G→ C
were totally linked together (d 2= 1) and showed very low allele frequencies (0.002), which …
response, hematopoiesis, and bone resorption. Three single-nucleotide polymorphisms
(SNP) in the IL6 promoter region were genotyped by the single-base extension method. The
frequencies of each SNP were 0.002 (IL6− 597 G→ A), 0.27 (IL6− 572 G→ C), and 0.002
(IL6− 174 G→ C) in a Korean population (n= 1,082). IL6− 597 G→ A and IL6− 174 G→ C
were totally linked together (d 2= 1) and showed very low allele frequencies (0.002), which …
Abstract
Interleukin-6 (IL6) has many roles essential to the regulation of the immune response, hematopoiesis, and bone resorption. Three single-nucleotide polymorphisms (SNP) in the IL6 promoter region were genotyped by the single-base extension method. The frequencies of each SNP were 0.002 (IL6− 597 G→ A), 0.27 (IL6− 572 G→ C), and 0.002 (IL6− 174 G→ C) in a Korean population (n= 1,082). IL6− 597 G→ A and IL6− 174 G→ C were totally linked together (d 2= 1) and showed very low allele frequencies (0.002), which are common in Caucasians. On the other hand, the frequency of the IL6− 572 G→ C* C allele was much higher (0.27) than that in Caucasian populations (< 0.07). One of the IL6 promoter SNPs, viz., IL6− 572 G→ C, showed significant associations with bone mineral density (BMD), ie, the C allele was associated with increased BMD (P= 0.02, co-dominant model; P= 0.007, dominant model). The mean BMD was highest in homozygous C individuals (0.67±0.15), lowest in homozygous G individuals (0.58±0.19), and intermediate in heterozygotes (0.64±0.21). In the present study, we describe a variant in the IL6 promoter region that shows positive association with higher BMD in a gene-dose-dependent manner in pre-menopausal women.
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