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VOOZH | about |
%605833
Table of Contents
Cytogenetic location: 1q21-q23 Genomic coordinates (GRCh38) : 1:143,200,001-165,500,000
For a discussion of genetic heterogeneity of bone mineral density (BMD), see BMND1 (601884).
Koller et al. (2000) conducted an autosomal genome screen in 429 Caucasian sister pairs to identify additional loci underlying normal variations in peak bone mineral density. Multipoint lod scores were computed for BMD at 4 skeletal sites. Chromosomal regions with lod scores above 1.85 were further pursued in an expanded sample of 595 sister pairs (464 Caucasians and 131 African Americans). The highest lod score attained in the expanded sample was 3.86 at chromosome 1q21-q23 with lumbar spine BMD. Markers within the 11q12-q13 region (BMND1) continued to support linkage to femoral neck BMD, although the peak lod score was decreased to 2.16 in the sample of 595 sib pairs.
Econs et al. (2004) found confirmatory evidence for linkage to 1q in an independent sample of 254 white sister pairs. Linkage of spine peak BMD to 1q was found with a lod score of 2.5. Microsatellite markers were subsequently genotyped for a 4-cM map in the 1q region in 938 white sister pairs, and a lod score of 4.3 was obtained near the marker D1S445.
Cheung et al. (2009) genotyped 610 Chinese sib pairs from 231 families using 380 SNPs across a 6.0-Mb region on chromosome 1q and identified an association between SNP rs2800791 in intron 2 of the PBX1 gene (176310) and spinal BMD. The finding was replicated in case-control cohorts of 835 Chinese individuals with high and low spine BMD and 703 Japanese individuals with osteoporosis (166710) and 565 normal Japanese controls. The variant did not affect PBX1 transcript splicing. Cheung et al. (2009) suggested that rs2800791 or SNPs within its linkage disequilibrium block may play a role in BMD variation.
Cheung, C.-L., Chan, B. Y. Y., Chan, V., Ikegawa, S., Kou, I., Ngai, H., Smith, D., Luk, K. D. K., Huang, Q.-Y., Mori, S., Sham, P.-C., Kung, A. W. C. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. Hum. Molec. Genet. 18: 679-687, 2009. [PubMed: 19064610, related citations] [Full Text]
Econs, M. J., Koller, D. L., Hui, S. L., Fishburn, T., Conneally, P. M., Johnston, C. C., Jr., Peacock, M., Foroud, T. M. Confirmation of linkage to chromosome 1q for peak vertebral bone mineral density in premenopausal white women. Am. J. Hum. Genet. 74: 223-228, 2004. [PubMed: 14730478, related citations] [Full Text]
Koller, D. L., Econs, M. J., Morin, P. A., Christian, J. C., Hui, S. L., Parry, P., Curran, M. E., Rodriguez, L. A., Conneally, P. M., Joslyn, G., Peacock, M., Johnston, C. C., Foroud, T. Genome screen for QTLs contributing to normal variation in bone mineral density and osteoporosis. J. Clin. Endocr. Metab. 85: 3116-3120, 2000. [PubMed: 10999795, related citations] [Full Text]
Cytogenetic location: 1q21-q23 Genomic coordinates (GRCh38) : 1:143,200,001-165,500,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 1q21-q23 | [Bone mineral density QTL 2] | 605833 | 2 |
For a discussion of genetic heterogeneity of bone mineral density (BMD), see BMND1 (601884).
Koller et al. (2000) conducted an autosomal genome screen in 429 Caucasian sister pairs to identify additional loci underlying normal variations in peak bone mineral density. Multipoint lod scores were computed for BMD at 4 skeletal sites. Chromosomal regions with lod scores above 1.85 were further pursued in an expanded sample of 595 sister pairs (464 Caucasians and 131 African Americans). The highest lod score attained in the expanded sample was 3.86 at chromosome 1q21-q23 with lumbar spine BMD. Markers within the 11q12-q13 region (BMND1) continued to support linkage to femoral neck BMD, although the peak lod score was decreased to 2.16 in the sample of 595 sib pairs.
Econs et al. (2004) found confirmatory evidence for linkage to 1q in an independent sample of 254 white sister pairs. Linkage of spine peak BMD to 1q was found with a lod score of 2.5. Microsatellite markers were subsequently genotyped for a 4-cM map in the 1q region in 938 white sister pairs, and a lod score of 4.3 was obtained near the marker D1S445.
Cheung et al. (2009) genotyped 610 Chinese sib pairs from 231 families using 380 SNPs across a 6.0-Mb region on chromosome 1q and identified an association between SNP rs2800791 in intron 2 of the PBX1 gene (176310) and spinal BMD. The finding was replicated in case-control cohorts of 835 Chinese individuals with high and low spine BMD and 703 Japanese individuals with osteoporosis (166710) and 565 normal Japanese controls. The variant did not affect PBX1 transcript splicing. Cheung et al. (2009) suggested that rs2800791 or SNPs within its linkage disequilibrium block may play a role in BMD variation.
Cheung, C.-L., Chan, B. Y. Y., Chan, V., Ikegawa, S., Kou, I., Ngai, H., Smith, D., Luk, K. D. K., Huang, Q.-Y., Mori, S., Sham, P.-C., Kung, A. W. C. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. Hum. Molec. Genet. 18: 679-687, 2009. [PubMed: 19064610] [Full Text: https://doi.org/10.1093/hmg/ddn397]
Econs, M. J., Koller, D. L., Hui, S. L., Fishburn, T., Conneally, P. M., Johnston, C. C., Jr., Peacock, M., Foroud, T. M. Confirmation of linkage to chromosome 1q for peak vertebral bone mineral density in premenopausal white women. Am. J. Hum. Genet. 74: 223-228, 2004. [PubMed: 14730478] [Full Text: https://doi.org/10.1086/381401]
Koller, D. L., Econs, M. J., Morin, P. A., Christian, J. C., Hui, S. L., Parry, P., Curran, M. E., Rodriguez, L. A., Conneally, P. M., Joslyn, G., Peacock, M., Johnston, C. C., Foroud, T. Genome screen for QTLs contributing to normal variation in bone mineral density and osteoporosis. J. Clin. Endocr. Metab. 85: 3116-3120, 2000. [PubMed: 10999795] [Full Text: https://doi.org/10.1210/jcem.85.9.6778]
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