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Association of interleukin-6 promoter variant with bone mineral density in pre-menopausal women
- Association of interleukin-6 promoter variant with bone mineral density in pre-menopausal women
- Chung H.W.; Seo J.-S.; Hur S.E.; Kim H.L.; Kim J.Y.; Jung J.H.; Kim L.H.; Park B.L.; Shin H.D.
- Ewha Authors
- 김형래; 정혜원
- SCOPUS Author ID
- 김형래; 정혜원
- Issue Date
- Journal Title
- Journal of Human Genetics
- vol. 48, no. 5, pp. 243 - 248
- SCI; SCIE; SCOPUS
- 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 (d2 = 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), i.e., 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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