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Titolo:
A nucleotide variant in the promoter region of the interleukin-6 gene associated with decreased bone mineral density
Autore:
Ota, N; Nakajima, T; Nakazawa, I; Suzuki, T; Hosoi, T; Orimo, H; Inoue, S; Shirai, Y; Emi, M;
Indirizzi:
Nippon Med Sch, Inst Gerontol, Dept Mol Biol, Nakahara Ku, Kawasaki, Kanagawa 2118533, Japan Nippon Med Sch Kawasaki Kanagawa Japan 2118533 i, Kanagawa 2118533, Japan Nippon Med Sch, Dept Orthoped, Tokyo 113, Japan Nippon Med Sch Tokyo Japan 113 Med Sch, Dept Orthoped, Tokyo 113, Japan Tokyo Metropolitan Inst Gerontol & Hosp, Tokyo, Japan Tokyo Metropolitan Inst Gerontol & Hosp Tokyo Japan Hosp, Tokyo, Japan Univ Tokyo, Fac Med, Dept Geriatr, Tokyo 113, Japan Univ Tokyo Tokyo Japan 113 okyo, Fac Med, Dept Geriatr, Tokyo 113, Japan
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 5, volume: 46, anno: 2001,
pagine: 267 - 272
SICI:
1434-5161(2001)46:5<267:ANVITP>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
POSTMENOPAUSAL JAPANESE WOMEN; DINUCLEOTIDE REPEAT POLYMORPHISM; IL-6 GENE; CALCITONIN RECEPTOR; EXPRESSION; LOCUS; TRANSCRIPTION; OSTEOPOROSIS; LINKAGE; SUSCEPTIBILITY;
Keywords:
interleukin-6 gene; bone mineral density; osteoporosis; single-nucleotide polymorphism (SNP);
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
39
Recensione:
Indirizzi per estratti:
Indirizzo: Emi, M Nippon Med Sch, Inst Gerontol, Dept Mol Biol, Nakahara Ku, 1-396 Kosugi Cho, Kawasaki, Kanagawa 2118533, Japan Nippon Med Sch 1-396 Kosugi ChoKawasaki Kanagawa Japan 2118533 pan
Citazione:
N. Ota et al., "A nucleotide variant in the promoter region of the interleukin-6 gene associated with decreased bone mineral density", J HUM GENET, 46(5), 2001, pp. 267-272

Abstract

Interleukin-6 (IL6) has come to be regarded as a potential osteoporotic factor because it has stimulatory effects on cells of the osteoclast lineage,and, thus. may play a role in the pathogenesis of bone loss associated with estrogen deficiency. We previously described association of the IL6 microsatellite with bone mineral density (BMD), as well as genetic linkage of the IL6 locus to human osteoporosis, by means of sib-pair analysis. However, the molecular mechanism by which this locus regulates BMD remains unknown. Accordingly, we searched for polymorphisms in the 5' and 3' flanking regions and in all five exons of the IL6 gene in a Japanese population sample. Weidentified three single-nucleotide sequence variations: a C/G substitutionat nucleotide (nt) --634 in the promoter region, a G/A substitution at nt 4391 in the 3' noncoding region, and a variation in the AnTn tract around nt -447. The last of these had already been observed in Caucasians, as well as in Japanese. The single-nucleotide polymorphism at --634 created a restriction site for the BsrBI endonuclease, and the frequency of the minor (G) allele was 0.184. Five haplotypes were constructed among three variations examined in the population. Linkage disequilibrium was observed between the variation at --634 and the variation at 4391, as well as between the variation at -634 and the AnTn tract variation. We found a significant correlation, in 470 subjects, between the presence of the G allele and decreased BMD.by analysis of variance. When BMD values were compared among the three genotypic groups (GIG, GIC, CIC) at nt -634, BMD was lowest among the GIG homozygotes (mean +/- SD: 0.284 +/- 0.062g/cm(2)), highest among the C/C homozygotes (0.314 +/- 0.059g/cm(2)), and intermediate among the heterozygotes (0.303 +/- 0.066g/cm(2); P < 0.05). Given the several lines of evidence fromdifferent genetic studies, we suggest that IL6 is, indeed, one of the genes affecting bone metabolism, in which variations can lead to osteoporosis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/01/20 alle ore 03:48:36