Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis

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Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis

Yu, Hao (författare): Center for Translational Research, Scottish Rite for Children, Dallas, United States,Scottish Rite Children, Ctr Excellence Hip, Dallas, TX 75219 USA.

Khanshour, Anas M. (författare): Center for Translational Research, Scottish Rite for Children, Dallas, United States,Scottish Rite Children, Ctr Excellence Hip, Dallas, TX 75219 USA.

Ushiki, Aki (författare): Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, United States; Institute for Human Genetics, University of California, San Francisco, San Francisco, United States,Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA USA.;Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA.

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Otomo, Nao (författare): Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan,RIKEN Ctr Integrat Med Sci, Lab Bone & Joint Dis, Tokyo, Japan.

Koike, Yoshinao (författare): Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan; Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan,RIKEN Ctr Integrat Med Sci, Lab Bone & Joint Dis, Tokyo, Japan.;RIKEN Ctr Integrat Med Sci, Lab Stat & Translat Genet, Yokohama, Japan.

Einarsdottir, Elisabet (författare): KTH,Genteknologi,Science for Life Laboratory, SciLifeLab,KTH Royal Inst Technol, Dept Gene Technol, Sci Life Lab, Solna, Sweden.

Fan, Yanhui (författare): School of Biomedical Sciences, The University of Hong Kong, Hong Kong SAR, China,Univ Hong Kong, Sch Biomed Sci, Hong Kong, Peoples R China.

Antunes, Lilian (författare): Department of Neurology, Washington University in St. Louis, St. Louis, United States,Washington Univ St Louis, Dept Neurol, St Louis, MO USA.

Kidane, Yared H. (författare): Center for Translational Research, Scottish Rite for Children, Dallas, United States,Scottish Rite Children, Ctr Excellence Hip, Dallas, TX 75219 USA.

Cornelia, Reuel (författare): Center for Translational Research, Scottish Rite for Children, Dallas, United States,Scottish Rite Children, Ctr Excellence Hip, Dallas, TX 75219 USA.

Sheng, Rory R. (författare): Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, United States; Institute for Human Genetics, University of California, San Francisco, San Francisco, United States,Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA USA.;Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA.

Zhang, Yichi (författare): Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, United States Institute for Human Genetics, University of California, San Francisco, San Francisco, United States; School of Pharmaceutical Sciences, Tsinghua University, Beijing, China;,Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA USA.;Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA.;Tsinghua Univ, Sch Pharmaceut Sci, Beijing, Peoples R China.

Pei, Jimin (författare): Department of Biophysics, University of Texas Southwestern Medical Center, Dallas, United States,Univ Texas Southwestern Med Ctr Dallas, Dept Biophys, Dallas, TX 75231 USA.

Grishin, Nick V. (författare): Department of Biophysics, University of Texas Southwestern Medical Center, Dallas, United States,Univ Texas Southwestern Med Ctr Dallas, Dept Biophys, Dallas, TX 75231 USA.

Evers, Bret M. (författare): Department of Pathology, University of Texas Southwestern Medical Center, Dallas, United States; Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, United States,Univ Texas Southwestern Med Ctr, Dept Pathol, Dallas, TX USA.;Univ Texas Southwestern Med Ctr, Dept Ophthalmol, Dallas, TX USA.

Cheung, Jason Pui Yin (författare): Department of Orthopaedics and Traumatology LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China,Univ Hong Kong, Dept Orthopaed & Traumatol, LKS Fac Med, Hong Kong, Peoples R China.

Herring, John A. (författare): Department of Orthopedic Surgery, Scottish Rite for Children, Dallas, United States; Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, Dallas, United States,Scottish Rite Children, Dept Orthoped Surg, Dallas, TX USA.;Univ Texas Southwestern Med Ctr, Dept Orthopaed Surg, Dallas, TX 75390 USA.

Terao, Chikashi (författare): Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan,RIKEN Ctr Integrat Med Sci, Lab Stat & Translat Genet, Yokohama, Japan.

Song, You Qiang (författare): School of Biomedical Sciences, The University of Hong Kong, Hong Kong SAR, China,Univ Hong Kong, Sch Biomed Sci, Hong Kong, Peoples R China.

Gurnett, Christina A. (författare): Department of Neurology, Washington University in St. Louis, St. Louis, United States,Washington Univ St Louis, Dept Neurol, St Louis, MO USA.

Gerdhem, Paul (författare): Karolinska Institutet,Uppsala universitet,Ortopedi och Handkirurgi,Uppsala Univ Hosp, Dept Orthopaed & Hand Surg, Uppsala, Sweden; Karolinska Inst, Dept Clin Sci Intervent & Technol CLINTEC, Stockholm, Sweden

Ikegawa, Shiro (författare): Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan,RIKEN Ctr Integrat Med Sci, Lab Bone & Joint Dis, Tokyo, Japan.

Rios, Jonathan J. (författare): Center for Translational Research, Scottish Rite for Children, Dallas, United States; Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, Dallas, United States; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, United States; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, United States,Scottish Rite Children, Ctr Excellence Hip, Dallas, TX 75219 USA.;Univ Texas Southwestern Med Ctr, Dept Orthopaed Surg, Dallas, TX 75390 USA.;Univ Texas Southwestern Med Ctr, Eugene McDermott Ctr Human Growth & Dev, Dallas, TX 75390 USA.;Univ Texas Southwestern Med Ctr, Dept Pediat, Dallas, TX 75390 USA.

Ahituv, Nadav (författare): Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, United States; Institute for Human Genetics, University of California, San Francisco, San Francisco, United States,Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA USA.;Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA.

Wise, Carol A. (författare): Center for Translational Research, Scottish Rite for Children, Dallas, United States; Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, Dallas, United States; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, United States; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, United States,Scottish Rite Children, Ctr Excellence Hip, Dallas, TX 75219 USA.;Univ Texas Southwestern Med Ctr, Dept Orthopaed Surg, Dallas, TX 75390 USA.;Univ Texas Southwestern Med Ctr, Eugene McDermott Ctr Human Growth & Dev, Dallas, TX 75390 USA.;Univ Texas Southwestern Med Ctr, Dept Pediat, Dallas, TX 75390 USA.

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Center for Translational Research, Scottish Rite for Children, Dallas, United States Scottish Rite Children, Ctr Excellence Hip, Dallas, TX 75219 USA (creator_code:org_t)

eLife Sciences Publications, Ltd, 2024
2024
Engelska.
Ingår i: eLIFE. - : eLife Sciences Publications, Ltd. - 2050-084X. ; 12

Relaterad länk:: https://doi.org/10.7...; visa fler...; https://uu.diva-port... (primary) (Raw object); https://urn.kb.se/re...; https://doi.org/10.7...; https://urn.kb.se/re...; http://kipublication...; visa färre...

Tidskriftsartikel (refereegranskat)

Abstract Ämnesord

Stäng

Adolescent idiopathic scoliosis (AIS) is a common and progressive spinal deformity in children that exhibits striking sexual dimorphism, with girls at more than fivefold greater risk of severe disease compared to boys. Despite its medical impact, the molecular mechanisms that drive AIS are largely unknown. We previously defined a female-specific AIS genetic risk locus in an enhancer near the PAX1 gene. Here, we sought to define the roles of PAX1 and newly identified AIS-associated genes in the developmental mechanism of AIS. In a genetic study of 10,519 individuals with AIS and 93,238 unaffected controls, significant association was identified with a variant in COL11A1 encoding collagen (α1) XI (rs3753841; NM_080629.2_c.4004C>T; p.(Pro1335Leu); p=7.07E-11, OR = 1.118). Using CRISPR mutagenesis we generated Pax1 knockout mice (Pax1-/-). In postnatal spines we found that PAX1 and collagen (α1) XI protein both localize within the intervertebral disc-vertebral junction region encompassing the growth plate, with less collagen (α1) XI detected in Pax1-/- spines compared to wild-type. By genetic targeting we found that wild-type Col11a1 expression in costal chondrocytes suppresses expression of Pax1 and of Mmp3, encoding the matrix metalloproteinase 3 enzyme implicated in matrix remodeling. However, the latter suppression was abrogated in the presence of the AIS-associated COL11A1P1335L mutant. Further, we found that either knockdown of the estrogen receptor gene Esr2 or tamoxifen treatment significantly altered Col11a1 and Mmp3 expression in chondrocytes. We propose a new molecular model of AIS pathogenesis wherein genetic variation and estrogen signaling increase disease susceptibility by altering a PAX1-COL11a1-MMP3 signaling axis in spinal chondrocytes.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Ortopedi (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Orthopaedics (hsv//eng)

Nyckelord

collagen XI
estrogen signaling
extracellular matrix
genetics
genomics
human
mouse
scoliosis

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