A genome-wide scan for loci linked to forearm bone mineral density

被引：0

作者：

Tianhua Niu

Changzhong Chen

Heather Cordell

Jianhua Yang

Binyan Wang

Zhaoxi Wang

Zhian Fang

Nicholas J. Schork

Clifford J. Rosen

X. Xu

机构：

[1] Program for Population Genetics,

[2] Harvard School of Public Health,undefined

[3] FXB-101,undefined

[4] 665 Huntington Avenue,undefined

[5] Boston,undefined

[6] MA 02115-6096,undefined

[7] USA e-mail: xxu@hohp.harvard.eduBoston,undefined

[8] MA,undefined

[9] Tel.: 617-432-2958,undefined

[10] Fax: 617-432-2956,undefined

[11] Institute for Biomedicine,undefined

[12] Anhui Medical University,undefined

[13] Hefei,undefined

[14] China,undefined

[15] Department of Epidemiology and Biostatistics,undefined

[16] Case Western Reserve University,undefined

[17] Cleveland,undefined

[18] Ohio,undefined

[19] USA,undefined

[20] Maine Center for Osteoporosis Research and Education,undefined

[21] Bangor,undefined

[22] ME,undefined

[23] USA,undefined

[24] Channing Laboratory,undefined

[25] Department of Medicine,undefined

[26] Brigham and Women’s Hospital,undefined

[27] Harvard Medical School,undefined

[28] Boston,undefined

[29] MA,undefined

来源：

Human Genetics | 1999年 / 104卷

关键词：

Bone Mineral Density; Osteoporosis; Fragility Fracture; Spinal Bone Mineral Density; Limited Sample Size;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Osteoporosis is a chronic disorder characterized by low bone mass and fragility fractures. It affects more than 25 million men and women in the United States alone. Although several candidate genes, such as the vitamin-D-receptor gene or the estrogen-receptor gene, have been suggested in the pathogenesis of osteoporosis, the genetic dissection of this disorder remains a daunting task. To search systematically for chromosomal regions containing genes that regulate bone mineral density (BMD), we scanned the entire autosomal genome by using 367 polymorphic markers among 218 individuals (153 sibpairs) from 96 nuclear families collected from three townships of Anqing, China. In these 96 families, DNA samples from both parents were available for 82 (85.4%) families. By using age- and gender-adjusted forearm BMD measurements, a peak on chromosome 2 near D2S2141, D2S1400, and D2S405, a region previously linked to spinal BMD, showed evidence of linkage to both proximal and distal forearm BMD (multipoint LOD=2.15 and 2.14 for proximal and distal forearm BMD, respectively). One region on chromosome 13 (multipoint LOD=1.67) in the proximity of D13S788 and D13S800 showed evidence of linkage to distal forearm BMD only. Possible candidate genes included CALM2 (calmodulin 2) at 2p21.3-p21.1, a putative STK (serine/threonine kinase) at 2p23–24, POMC (pro-opiomelanocortin) at 2p23.3, and COL4A1 and COL4A2 (collagen IV alpha-1 and alpha-2 subunits) at 13q34. Because of the limited sample size, the suggestive evidence of linkage of this study should be considered as tentative and needs to be replicated in other larger populations.

引用

页码：226 / 233

页数：7