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Chromosomal regions 22q13 and 3p25 may harbor quantitative trait loci influencing both age at menarche and bone mineral density

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Abstract

Late age at menarche (AAM), an important type of endocrinopathy in females, is associated with lower bone mineral density (BMD), a major risk factor for osteoporosis. The correlation is mainly mediated through common genetic factors, which are largely unknown. A bivariate genome-wide linkage scan was conducted on 2,522 females from 414 Caucasian pedigrees to identify quantitative trait loci influencing both AAM and BMD. The strongest linkage signal was detected on chromosome 22q13. Other regions such as the 3q13, 3p25, 7p15, and 15q13 were also suggested. The inferred promising candidate genes in the linkage regions may contribute to our understanding of pathogenesis of endocrinopathy and osteoporosis in females.

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Acknowledgments

This work was partially supported by National Institutes of Health Grants K01 AR02170, R01 AR050496, R01 GM60402, R21 AG027110, R01 AG026564, and P50 AR055081; the LB595 and LB692 grants from the State of Nebraska; Xi’an Jiaotong University the “211” State Key Research Fund; the “985” Action Plan Fund for Institute of Molecular Genetics; the National Science Foundation of China; Huo Ying Dong Education Foundation, Hunan Province; and the Ministry of Education of China. We are grateful to two anonymous reviewers for improving the manuscript. The genotyping experiment was performed by the Marshfield Center for Medical Genetics and supported by NHLBI Mammalian Genotyping Service (Contract HV48141).

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The authors declare no conflict of interest.

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Authors and Affiliations

  1. The Key Laboratory of Biomedical Information Engineering of Ministry of Education, and Institute of Molecular Genetics, School of Life Science and Technology, Xi’an Jiaotong University, Xi’an, Shaanxi, 710049, People’s Republic of China

    Feng Pan, Yan Guo & Hong-Wen Deng

  2. Department of Biomedical Sciences and Osteoporosis Research Center, School of Medicine, Creighton University, Omaha, NE, 68131, USA

    Feng Pan, Peng Xiao & Robert R. Recker

  3. Department of Basic Medical Science, School of Medicine, University of Missouri-Kansas City, 2411 Holmes Street, Room M3-C03, Kansas City, MO, 64108-2792, USA

    Yong-Jun Liu, Hong-Yi Deng & Hong-Wen Deng

  4. Department of Orthopedic Surgery, School of Medicine, University of Missouri-Kansas City, 2411 Holmes Street, Room M3-C03, Kansas City, MO, 64108-2792, USA

    Yong-Jun Liu, Hong-Yi Deng & Hong-Wen Deng

  5. Laboratory of Molecular and Statistical Genetics, College of Life Sciences Hunan Normal University, Changsha, Hunan, 410081, People’s Republic of China

    Hong-Wen Deng

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  1. Feng Pan
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  2. Peng Xiao
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  3. Yan Guo
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Correspondence to Hong-Wen Deng.

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Pan, F., Xiao, P., Guo, Y. et al. Chromosomal regions 22q13 and 3p25 may harbor quantitative trait loci influencing both age at menarche and bone mineral density. Hum Genet 123, 419–427 (2008). https://doi.org/10.1007/s00439-008-0490-z

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