title: The VDR, COL1A1, PTH, and PTHR1 gene polymorphisms are not associated with bone size and height in Chinese nuclear families.
abstract: We tested the relationship of the ApaI, Eco31I, BstBI, and (AAAG)n polymorphisms in the vitamin D receptor (VDR), collagen type I alpha-1 (COL1A1), parathyroid hormone (PTH), and parathyroid hormone (PTH)/PTH-related peptide receptor (PTHR1) genes with variations in bone size (BS) and height. Population stratification, total-family association, and within-family association were used to test these relationships in 400 Chinese nuclear families with a total of 1256 individuals. The BS at hip and spine was measured using a Hologic QDR 2000 dual-energy X-ray absorptiometry (DXA) scanner. The minor allele frequencies were 29.2%, 36.0%, and 14.0% for the VDR-ApaI, COL1A1-Eco31I, and PTH-BstBI markers, respectively. (AAAG)5 and (AAAG)6 of the PTHR1 gene are two major alleles in the Chinese people. Significant population stratification was found between the spine BS and PTHR1-(AAAG)5 (P = 0.048) and PTHR1-(AAAG)6 (P = 0.023), as well as between PTHR1-(AAAG)5 and height (P = 0.048), but we did not detect any significant within-family association or total-family association between the VDR, COL1A1, PTH, and PTHR1 gene polymorphisms and the variations in BS and height in our sample. Our results do not support that the VDR, COL1A1, PTH, and PTHR1 genes have an important influence on the variation in BS and height in our Chinese population.
authors.affiliation: Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha, Hunan, 410081, PR China.
authors.forename: Shu-Feng
authors.initials: SF
authors.lastname: Lei
authors.forename: Yan-Bo
authors.initials: YB
authors.lastname: Wang
authors.forename: Man-Yuan
authors.initials: MY
authors.lastname: Liu
authors.forename: Xiao-Yang
authors.initials: XY
authors.lastname: Mo
authors.forename: Hong-Wen
authors.initials: HW
authors.lastname: Deng
mesh_terms: D015502:Absorptiometry, Photon; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D001827:Body Height / Q000235:genetics*; D001842:Bone and Bones / Q000033:anatomy & histology*; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009679:Nuclear Family; D010281:Parathyroid Hormone / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D044168:Receptor, Parathyroid Hormone, Type 1 / Q000235:genetics*; D018167:Receptors, Calcitriol / Q000235:genetics*
chemical_list: C000716127:COL1A1 protein, human; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D010281:Parathyroid Hormone; D044168:Receptor, Parathyroid Hormone, Type 1; D018167:Receptors, Calcitriol