A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility

Chapman, Kay; Takahashi, Atsushi; Meulenbelt, Ingrid; Watson, Chris; Rodriguez‐Lopez, Julio A.; Egli, Rainer J.; Tsezou, Aspasia; Malizos, Konstantinos N.; Kloppenburg, Margreet; Shi, Dongquan; Southam, Lorraine; Breggen, Ruud van der; Donn, Rachelle; Qin, Jianghui; Doherty, Michael; Slagboom, P. Eline; Wallis, Gillian A.; Kamatani, Naoyuki; Jiang, Qing; González, Antonio; Loughlin, John; Ikegawa, Shiro

doi:10.1093/hmg/ddn038

Cited by 161 publications

(139 citation statements)

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“…7,12,14 Some studies have found that the SNP in GDF5 is associated with susceptibility to osteoarthritis, congenital dysplasia of the hip, and lumbar disc degeneration. 3,24 Our previous study demonstrated an association between the GDF5 T allele and symptomatic lumbar disc herniation in the Chinese Han population. Object.…”

Section: ©Aans 2013mentioning

confidence: 95%

Analysis of association between IL-1β, CASP-9, and GDF5 variants and low-back pain in Chinese male soldiers

Zuo³

et al. 2013

SPI

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Object Recent studies have suggested that genetic risk factors play an important role in the occurrence of low-back pain (LBP) and lumbar disc disease. The authors' study aimed to assess the association between 3 single-nucleotide polymorphisms (SNPs) and susceptibility to LBP related to military training. Methods In this case-control study, data from 892 Chinese male soldiers were retrospectively reviewed. The case group was made up of 305 soldiers with LBP related to military training and a control group of 587 soldiers without constant LBP for more than 2 weeks. Genomic DNA was extracted from peripheral blood leukocytes of all subjects and polymerase chain reaction products were genotyped. Results No association was found between the SNP of interleukin-1β (IL-1β; +3954C/T) and LBP at both the genotypic (p = 0.104) and the allelic (p = 0.098) level. However, the G allele of caspase-9 (CASP-9) and the T allele of growth differentiation factor 5 (GDF5) were more common in patients with LBP than in patients without LBP (p < 0.001). Conclusions The findings in a Chinese military cohort indicated that CASP-9 (−1263A/G) and GDF5 (+104T/C) polymorphisms are associated with a susceptibility to LBP related to military training.

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Section: ©Aans 2013mentioning

confidence: 95%

Analysis of association between IL-1β, CASP-9, and GDF5 variants and low-back pain in Chinese male soldiers

Zuo³

et al. 2013

SPI

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“…4 Previous studies found associations of knee OA with ASPN, GDF5 and DVWA, and metaanalysis showed global association in GDF5, whereas ASPN and DVWA have ethnic differences. [5][6][7] Leptin is a 16-kDa non-glycosylated peptide hormone, mainly produced by adipocytes. 8 Leptin protein level is much higher in OA cartilage than in normal cartilage.…”

Section: Introductionmentioning

confidence: 99%

Association of the leptin gene with knee osteoarthritis susceptibility in a Han Chinese population: a case–control study

et al. 2010

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Previous studies have suggested that leptin works as a key regulator in the pathogenesis of osteoarthritis (OA), and genetic factors modulate OA. This study assessed the contribution of leptin gene (LEP) polymorphism(s) to knee OA among Han Chinese. Three tag single-nucleotide polymorphisms (SNPs) covering all those LEP SNPs of which the minor allele frequencies were over 10% were selected. Study subjects (697 patients and 699 controls) were divided into four groups (underweight, normal weight, overweight and obese) by body mass index (BMI). Allele and genotype frequencies in the three tag SNPs were significantly different in the normal weight and overweight groups. In the normal weight, overweight and obese groups, BMI (P¼4.3Â10 À5 , 0.012 and 0.009, respectively) and gender (P¼3.5Â10 À22 , 5.1Â10 À23 and 2.1Â10 À8 , respectively) were effective factors. Age was an independent effective factor in the overweight group (P¼0.009). Haplotypes were associated with OA in the normal weight group (CAT, P¼0.015) and the overweight group (AGC, P¼0.015). Our results suggest an association between LEP and knee OA in the normal weight and overweight groups among Han Chinese. Keywords: case-control association study; leptin; osteoarthritis; tag SNPs INTRODUCTION Knee osteoarthritis (OA) usually causes considerable pain and frequent instability, consequently resulting in physical disability. 1 Among Chinese of over 60 years of age, prevalence of symptomatic knee OA is 19.4%. 2 For knee OA, obesity is a major risk factor, and genetic factors modulate obesity and OA. 3 Classic twin studies have shown that the genetic influence is between 39 and 65% in radiographic OA of the hand and knee in women. 4 Previous studies found associations of knee OA with ASPN, GDF5 and DVWA, and metaanalysis showed global association in GDF5, whereas ASPN and DVWA have ethnic differences. [5][6][7] Leptin is a 16-kDa non-glycosylated peptide hormone, mainly produced by adipocytes. 8 Leptin protein level is much higher in OA cartilage than in normal cartilage. 9 It participated in the pathogenesis of OA by affecting chondrocyte metabolism. 10,11 A high level of leptin expression increases nitric oxide, matrix metaloprotease-9 and matrix metaloprotease-13 expression, affects chondrocyte function and finally results in OA. 11,12 However, so far, few studies have been conducted on the possible existence of association between leptin gene (LEP) polymorphisms and OA susceptibility.

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“…The combined association for both ethnic groups is highly significant for the allele frequency model (OR, 1.21; p = 0.0004). These findings represent the first highly significant evidence for a risk factor for the development of OA that affects two highly diverse ethnic groups (Chapman et al, 2008).…”

Section: Bone Morphogenetic Proteinsmentioning

confidence: 69%

The Genetics of Osteoarthritis

Miranda‐Duarte¹

2012

Principles of Osteoarthritis- Its Definition, Character, Derivation and Modality-Related Recognition

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A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility

Cited by 161 publications

References 32 publications

Analysis of association between IL-1β, CASP-9, and GDF5 variants and low-back pain in Chinese male soldiers

Analysis of association between IL-1β, CASP-9, and GDF5 variants and low-back pain in Chinese male soldiers

Association of the leptin gene with knee osteoarthritis susceptibility in a Han Chinese population: a case–control study

The Genetics of Osteoarthritis

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