Polymorphisms in the HOXD4 gene are not associated with peak bone mineral density in Chinese nuclear families

Zhang, Hao; He, Jia; Gao, Gao; Yue, Hua; Yu, Jinbo; Gu, Juan; Hu, Yuxi; Li, Miao Li; Fu, Wen‐Zhen; Liu, Yujuan; Zhang, Zhenlin

doi:10.1038/aps.2010.91

Cited by 16 publications

(12 citation statements)

References 34 publications

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“…59 Similar results were found for other associations. 63,64 Although our cohort were all white Caucasians, some genetic heterogeneity within this ethnic group would not be surprising. Investigating the sample with a panel of ethnically specific SNPs might clarify this issue, although CHRFAM7A variants investigated here show a wide allele frequency variation between ethnicities, 21 suggesting that stratification effects may be particularly pronounced for these variants.…”

Section: Discussionmentioning

confidence: 96%

Association between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating

et al. 2012

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There is considerable evidence implicating the 15q13.3 region in neuropsychiatric disorders, with the a7 nicotinic receptor gene CHRNA7 the most plausible candidate. This region has multiple duplications and many copy number variants (CNVs). A common CNV involves a partial duplication of CHRNA7 (CHRFAM7A), which occurs in either orientation. We examined the distribution of these alternative genomic arrangements in a large cohort of psychiatric patients, their relatives and controls using the 2-bp deletion polymorphism as a marker for the orientation of CHRFAM7A. We investigated three common alleles for association with psychosis and with the P50 sensory gating deficit, which is strongly associated with psychosis and strongly linked to 15q13.3. We found significant within-family association with P50 (empirical P ¼ 0.004), which is robust to population stratification. Most of the effect came from the 2-bp deletion allele, which tags the variant of CHRFAM7A in the same orientation as CHRNA7. This allele is associated with the presence of the P50 sensory gating deficit (empirical P ¼ 0.0006). Tests comparing within-family and between-family components of association suggest considerable population stratification in the sample. We found no evidence for association with psychosis, but this may reflect lower power using this phenotype. Four out of six previous association studies found association of different psychiatric phenotypes with the same 2-bp deletion allele.

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Section: Discussionmentioning

confidence: 96%

Association between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating

et al. 2012

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“…The Lunar device was calibrated daily. The coefficient of variability (CV) values of the DXA measurements of the lumbar spine, femoral neck, and total hip was 1.39, 2.22, and 0.70%, respectively [30,31]. All DXA scans were conducted by the same well-trained technologists throughout the study.…”

Section: Methodsmentioning

confidence: 99%

Associations of Serum Osteocalcin and Polymorphisms of the Osteocalcin Gene with Bone Mineral Density in Postmenopausal and Elderly Chinese Women

Zhang

He²,

Fu³

et al. 2016

Lifestyle Genomics

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Background: The aims of this study were: (1) to evaluate the association of serum osteocalcin with bone mineral density (BMD) and markers of bone metabolism in postmenopausal and elderly Chinese women, and (2) to observe the relationships of single-nucleotide polymorphisms (SNPs) in and around the osteocalcin gene with osteocalcin and BMD. Methods: A cross-sectional study was conducted with 725 postmenopausal Chinese women. Five SNPs (rs1543294, rs1800247, rs759330, rs2842880, and rs933489) of the osteocalcin gene were genotyped. Serum osteocalcin and intact parathyroid hormone (PTH), 25-hydroxyvitamin D [25(OH)D], and type I collagen containing cross-linked C-telopeptide (β-CTX) were measured. The BMD of the lumbar spine and proximal femur was measured by dual-energy X-ray absorptiometry. Results: Osteocalcin was positively correlated with serum phosphorus (p = 0.001), alkaline phosphatase (ALP; p < 0.001), PTH (p = 0.002) and β-CTX (p < 0.001), and negatively correlated with BMD at the lumbar spine (p < 0.001) and total hip (p = 0.002). No significant association was obtained between the SNPs, haplotypes of the osteocalcin gene, and BMD or osteocalcin. Conclusion: Our results suggest that osteocalcin was positively correlated with serum phosphorus, ALP, PTH, and β-CTX, but negatively correlated with BMD at the lumbar spine and total hip. Common genetic variants of the osteocalcin gene may not be a major contributor to variations in serum osteocalcin or BMD in postmenopausal and elderly Chinese women.

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“…The probands of families 1 (proband 1) and 3 (proband 3) were assessed using Lunar Prodigy equipment (GE Lunar corp., Madison, WI, USA). The Lunar device was calibrated daily and the coefficient of variability (CV) value of the DXA measurements at L1-4 was 1.39% (15). The proband of family 2 (proband 2) was assessed using Hologic Discovery A equipment (Hologic, Bedford, MA, USA).…”

Section: Methodsmentioning

confidence: 99%

“…The machine was calibrated daily. The CV value of the dXA measurements at L1-4 was 0.9% (15). Lumbar spine BMD results were converted to age-and sex-specific Z-scores according to the reference data (16).…”

Section: Methodsmentioning

confidence: 99%

Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta

Zhang

Yue

et al. 2018

Int J Mol Med

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The aim of the present study was to characterize the clinical manifestations and identify the mutations of Serpin family F member 1 (SERPINF1) and FK506 binding protein 10 (FKBP10) genes in Chinese patients with osteogenesis imperfecta (OI). Using whole‑exome sequencing in the first and third probands, a novel mutation was identified in SERPINF1 and a novel compound heterozygous mutation was revealed in FKBP10. Using Sanger sequencing, an additional novel mutation in SERPINF1 was identified in a proband of family 2. In family 1, the proband presented with a novel homozygous missense mutation of the SERPINF1 gene, c.1067T>A (V356E). In family 2, the proband had a novel homozygous deletion mutation of the SERPINF1 gene, c.283+473_643+104del (p.Ala96_Gly215del). Serum pigment‑epithelium‑derived factor concentration was not detected in probands with OI type VI. For both families, the proband's father was demonstrated to have a heterozygous mutation of SERPINF1, whereas no mutations was detected in the probands' mothers. An assessment of allelic copy numbers revealed a deletion of SERPINF1 in the mother of family 1. The results of the present study demonstrate that patients may have mild symptoms of OI with a large fragment deletion in the SERPINF1 gene. Thus, the phenotype of Chinese patients with type VI OI is milder than that of Caucasian and Korean patients. In family 3, the proband displayed a novel compound heterozygous mutation in FKBP10, c.813_814delGA (p.Glu271AspfsX101) and c.831delC (p.Gly278AlafsX20), and did not have Bruck syndrome. Codon 831 of the FKBP10 gene may represent a mutation hotspot for human OI. These results extend both the phenotypic and the genotypic contents of OI patients with SERPINF1 or FKBP10 mutations.

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Polymorphisms in the HOXD4 gene are not associated with peak bone mineral density in Chinese nuclear families

Cited by 16 publications

References 34 publications

Association between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating

Association between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating

Associations of Serum Osteocalcin and Polymorphisms of<b> </b>the<b><i> Osteocalcin</i></b> Gene with Bone Mineral Density in Postmenopausal and Elderly Chinese Women

Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta

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