SIBLING family genes and bone mineral density: Association and allele-specific expression in humans
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- 作者：Imranul Alama ; 1 ; ialam@iupui.edu" class="auth_mail ; Leah R. Padgetta ; 1 ; Shoji Ichikawaa ; Mohammed Alkhoulia ; Daniel L. Kollerb ; Dongbing Laib ; Munro Peacocka ; Xiaoling Xueic ; Tatiana Foroudb ; Howard J. Edenbergb ; c ; Michael J. Econsa ; b
- 关键词：Bone mineral density ; Osteoporosis ; Genetic association ; SIBLING genes ; Allele-specific expression
- 刊名：Bone
- 出版年：July 2014
- 年：2014
- 卷：64
- 期：Complete
- 页码：166-172
- 全文大小：569 K
文摘
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We tested SNPs in the SIBLING family genes for association with normal variation in peak BMD in humans.
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In the European-American women, we observed association of SNPS in the DMP1, DSPP, IBSP and MEPE with LS-BMD and FN-BMD.
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Allele-specific gene expression (ASE) is important for controlling phenotypic variation associated with complex traits and diseases.
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We examined preferential ASE for SNPs in the SIBLING family genes in human bone samples.
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We observed an allelic imbalance in mRNA expression for SNP rs17013181 in IBSP.