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Suggestive linkage to chromosome 1q for bone mineral apparent density in Brazilian sister adolescents.

Joint Bone Spine
Publication Date
DOI: 10.1016/j.jbspin.2011.05.007
  • Adolescent
  • Adult
  • Bone Density/Genetics
  • Brazil/Epidemiology
  • Child
  • Chromosomes
  • Human
  • Pair 1/Genetics
  • Chromosomes
  • Human
  • Pair 11/Genetics
  • Female
  • Genetic Linkage
  • Genetic Predisposition To Disease/Ethnology
  • Genetic Predisposition To Disease/Genetics
  • Genotype
  • Humans
  • Lod Score
  • Microsatellite Repeats/Genetics
  • Middle Aged
  • Mothers/Statistics & Numerical Data
  • Osteoporosis/Ethnology
  • Osteoporosis/Genetics
  • Young Adult


OBJECTIVE: To investigate linkage to chromosome 1q and 11q region for lumbar spine, femoral neck and total body BMD and volumetric BMD in Brazilian sister adolescents aged 10-20-year-old and 57 mothers. METHODS: We evaluated 161 sister pairs (n=329) aged 10-20 years old and 57 of their mothers in this study. Physical traits and lifestyle factors were collected as covariates for lumbar spine (LS), femoral neck (FN) and total body (TB) BMD and bone mineral apparent density (BMAD). We selected nine microsatellite markers in chromosome 1q region (spanning nearly 33cM) and eight in chromosome 11q region (spanning nearly 34cM) to perform linkage analysis. RESULTS: The highest LOD score values obtained from our data were in sister pairs LS BMAD analysis. Their values were: 1.32 (P<0.006), 2.61 (P<0.0002) and 2.44 (P<0.0004) in D1S218, D1S2640 and D1S2623 markers, respectively. No significant LOD score was found with LS and FN BMD/BMAD in chromosome 11q region. Only TB BMD showed significant linkage higher than 1.0 for chromosome 11q region in the markers D11S4191 and D11S937. DISCUSSION/CONCLUSIONS: Our results provided suggestive linkage for LS BMAD at D1S2640 marker in adolescent sister pairs and suggest a possible candidate gene (LHX4) related to adolescent LS BMAD in this region. These results reinforce chromosome 1q21-23 as a candidate region to harbor one or more bone formation/maintenance gene. In the other hand, it did not repeat for chromosome 11q12-13 in our population.

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