Association of genetic variation of the RIL gene, encoding a PDZ-LIM domain protein and localized in 5q31.1, with low bone mineral density in adult Japanese women

被引：23

作者：

Omasu, F

Ezura, Y

Kajita, M

Ishida, R

Kodaira, M

Yoshida, H

Suzuki, T

Hosoi, T

Inoue, S

Shiraki, M

Orimo, H

Emi, M

机构：

[1] Nippon Med Coll, Inst Gerontol, Dept Mol Biol, Nakahara Ku, Kawasaki, Kanagawa 2118533, Japan

[2] Tokyo Metropolitan Inst Gerontol, Tokyo, Japan

[3] Univ Tokyo, Fac Med, Dept Geriatr Med, Tokyo, Japan

[4] Inst Res, Nagano, Japan

[5] Practice Involut Dis, Nagano, Japan

[6] Tokyo Metropolitan Geriatr Hosp, Tokyo, Japan

来源：

JOURNAL OF HUMAN GENETICS | 2003年 / 48卷 / 07期

关键词：

single-nucleotide polymorphism; RIL; bone mineral density; association study;

D O I：

10.1007/s10038-003-0035-1

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Twin and family studies had shown that genetic factors are important determinants of bone mass. Multiple genes might be involved. One candidate gene, the reversion-induced LIM gene (RIL), is a PDZ and LIM-domain-containing protein and has been localized within the cytokine cluster of chromosome 5 (5q31.1). In a genetic study of 370 adult Japanese women, we investigated the correlation between radial bone mineral density (BMD) and a genetic variation (-3333T --> C) of the 5'-flanking region of RIL gene. A significant association was identified between the RIL variation -3333T --> C and radial BMD (r = 0.15, P = 0.003). The variation of the RIL locus may be an important determinant of osteoporosis.

引用

页码：342 / 345

页数：4