caa a22 4500 445833858 CHVBK 20180317145324.0 cr unu---uuuuu 170323e20110401xx s 000 0 eng 10.1007/s00586-010-1598-0 doi (NATIONALLICENCE)springer-10.1007/s00586-010-1598-0 Single-nucleotide polymorphism in the hyaluronan and proteoglycan link protein 1 ( HAPLN1 ) gene is associated with spinal osteophyte formation and disc degeneration in Japanese women [Elektronische Daten] [Tomohiko Urano, Ken'ichiro Narusawa, Masataka Shiraki, Noriko Sasaki, Takayuki Hosoi, Yasuyoshi Ouchi, Toshitaka Nakamura, Satoshi Inoue] Spinal osteoarthritis including disc degeneration is a very common condition in the axial skeletons of aged people. Recently, spinal osteoarthritis has been shown to be influenced by specific genetic risk factors. Vertebral osteophytes, endplate sclerosis, and intervertebral disc narrowing are recognized as radiographic features of spinal disc degeneration. HAPLN1 is a key component of the cartilage extracellular matrix; thus, variations in this gene may affect the pathogenesis of cartilage-related diseases such as spinal degeneration. Here, we examine the association between an HAPLN1 gene polymorphism and the radiographic features of spinal degeneration. We evaluated the degree of endplate sclerosis, osteophyte formation, and disc space narrowing in 622 Japanese postmenopausal women. Four SNPs in the HAPLN1 gene—in the 5′ flanking region, intron 1, intron 2, and intron 4—were analyzed using the TaqMan polymerase chain reaction method. We found that compared to subjects with the CC or CT genotype, those with the TT genotype for an SNP at intron 2 (rs179851) were significantly overrepresented among the subjects with higher scores for osteophyte formation (P=0.0001; odds ratio 2.12; 95% confidence interval 1.45-3.11, as determined by logistic regression analysis) and disc space narrowing (P=0.0057; odds ratio 1.83; 95% confidence interval 1.19-2.83). Consistent with the involvement of the HAPLN1 gene in cartilage metabolism, a variation in a specific HAPLN1 gene locus may be associated with spinal degeneration. Springer-Verlag, 2010 Single-nucleotide polymorphism (SNP) nationallicence Hyaluronan and proteoglycan link protein gene (HAPLN1) nationallicence Osteoarthritis nationallicence Cartilage nationallicence Disc degeneration nationallicence Urano Tomohiko Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, 7-3-1, Hongo, Bumkyo-ku, Tokyo, Japan aut Narusawa Ken'ichiro Department of Orthopedic Surgery, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan aut Shiraki Masataka Research Institute and Practice for Involutional Diseases, Nagano, Japan aut Sasaki Noriko Department of Anti-Aging Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan aut Hosoi Takayuki Department of Advanced Medicine, National Center for Geriatrics and Gerontology, Aichi, Japan aut Ouchi Yasuyoshi Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, 7-3-1, Hongo, Bumkyo-ku, Tokyo, Japan aut Nakamura Toshitaka Department of Orthopedic Surgery, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan aut Inoue Satoshi Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, 7-3-1, Hongo, Bumkyo-ku, Tokyo, Japan aut European Spine Journal Springer-Verlag 20/4(2011-04-01), 572-577 0940-6719 20:4<572 2011 20 586 https://doi.org/10.1007/s00586-010-1598-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00586-010-1598-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Urano Tomohiko Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, 7-3-1, Hongo, Bumkyo-ku, Tokyo, Japan aut NATIONALLICENCE 700 1- Narusawa Ken'ichiro Department of Orthopedic Surgery, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan aut NATIONALLICENCE 700 1- Shiraki Masataka Research Institute and Practice for Involutional Diseases, Nagano, Japan aut NATIONALLICENCE 700 1- Sasaki Noriko Department of Anti-Aging Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan aut NATIONALLICENCE 700 1- Hosoi Takayuki Department of Advanced Medicine, National Center for Geriatrics and Gerontology, Aichi, Japan aut NATIONALLICENCE 700 1- Ouchi Yasuyoshi Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, 7-3-1, Hongo, Bumkyo-ku, Tokyo, Japan aut NATIONALLICENCE 700 1- Nakamura Toshitaka Department of Orthopedic Surgery, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan aut NATIONALLICENCE 700 1- Inoue Satoshi Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, 7-3-1, Hongo, Bumkyo-ku, Tokyo, Japan aut NATIONALLICENCE 773 0- European Spine Journal Springer-Verlag 20/4(2011-04-01), 572-577 0940-6719 20:4<572 2011 20 586 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer