title: Association of interleukin-6 promoter variant with bone mineral density in pre-menopausal women.
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), 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.
authors.affiliation: Department of Obstetrics and Gynecology, College of Medicine, Ewha Woman's University, 158-710, Seoul, Korea.
authors.forename: Hye Won
authors.initials: HW
authors.lastname: Chung
authors.affiliation: Department of Biochemistry and Molecular Biology, ILCHUN Molecular Medicine Institute, College of Medicine, Seoul National University, 28 Yungun-dong, Chonro-gu, 110-744, Seoul, Korea. jeongsun@snu.ac.kr.
authors.forename: Jeong-Sun
authors.initials: JS
authors.lastname: Seo
authors.affiliation: Department of Obstetrics and Gynecology, College of Medicine, Ewha Woman's University, 158-710, Seoul, Korea.
authors.forename: Sung Eun
authors.initials: SE
authors.lastname: Hur
authors.affiliation: Department of Biochemistry, College of Medicine, Ewha Woman's University, 158-710, Seoul, Korea.
authors.forename: Hyung Lae
authors.initials: HL
authors.lastname: Kim
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics Inc., 11th Floor, Maehun Building, 13 Chongro 4 Ga, Chongro Gu, 110-834, Seoul, Korea.
authors.forename: Jun Yeon
authors.initials: JY
authors.lastname: Kim
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics Inc., 11th Floor, Maehun Building, 13 Chongro 4 Ga, Chongro Gu, 110-834, Seoul, Korea.
authors.forename: Ji Hyun
authors.initials: JH
authors.lastname: Jung
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics Inc., 11th Floor, Maehun Building, 13 Chongro 4 Ga, Chongro Gu, 110-834, Seoul, Korea.
authors.forename: Lyoung Hyo
authors.initials: LH
authors.lastname: Kim
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics Inc., 11th Floor, Maehun Building, 13 Chongro 4 Ga, Chongro Gu, 110-834, Seoul, Korea.
authors.forename: Byung Lae
authors.initials: BL
authors.lastname: Park
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics Inc., 11th Floor, Maehun Building, 13 Chongro 4 Ga, Chongro Gu, 110-834, Seoul, Korea.
authors.forename: Hyoung Doo
authors.initials: HD
authors.lastname: Shin
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D015519:Bone Density / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006720:Homozygote; D006801:Humans; D015850:Interleukin-6 / Q000235:genetics*; D010024:Osteoporosis / Q000209:etiology / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D017697:Premenopause; D011401:Promoter Regions, Genetic
chemical_list: D015850:Interleukin-6