A novel variant near LSP1P3 is associated with knee osteoarthritis in the Chinese population

Li, Yetian; Liu, Fuen; Xu, Xin; Zhang, Hui; Lu, Ming; Gao, Weilu; Li, Yin; Yin, Zhou

doi:10.1007/s10067-020-04995-8

Cited by 10 publications

(7 citation statements)

References 28 publications

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“…The growth differentiation factor 5 ( GDF5 ) polymorphism rs143383 is reproducibly associated with OA, and this year was associated with OA-risk in the Kurdish population 1 . Oddly, in two meta-analyses examining the association of rs143383 with knee OA (KOA) in Asian individuals contradictory findings were observed 2 , 3 , while a new study in a Chinese Han population did find a link with KOA 4 . rs143383 is located in the 5′UTR of GDF5 and is associated with differential allelic expression of the gene, via altered DNA-binding of several transcriptional repressors 5 .…”

Section: Geneticsmentioning

confidence: 99%

Osteoarthritis year in review: genetics, genomics, epigenetics

Young

Barter

Soul

2022

Osteoarthritis and Cartilage

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Summary Objective In this review, we have highlighted the advances over the past year in genetics, genomics and epigenetics in the ﬁeld of osteoarthritis (OA). Methods A literature search of PubMed was performed using the criteria: “osteoarthritis” and one of the following terms “genetic(s), genomic(s), epigenetic(s), polymorphism, noncoding ribonucleic acid (RNA), microRNA, long noncoding RNA, lncRNA, circular RNA, RNA sequencing (RNA-seq), single cell sequencing, transcriptomics, or deoxyribonucleic acid (DNA) methylation between April 01, 2020 and April 30, 2021. Results In total we identiﬁed 765 unique publications, which eventually reduced to 380 of relevance to the field as judged by two assessors. Many of these studies included multiple search terms. We summarised advances relating to genetics, functional genetics, genomics and epigenetics, focusing on our personal key papers during the year. Conclusions This year few studies have identiﬁed new genetic variants contributing to OA susceptibility, but a focus has been on refining risk loci or their functional validation. The use of new technologies together with investigating the cross-talk between multiple tissue types, greater sample sizes and/or better patient classification (OA subtypes) will continue to increase our knowledge of disease mechanisms and progress towards understanding and treating OA.

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Section: Geneticsmentioning

confidence: 99%

Osteoarthritis year in review: genetics, genomics, epigenetics

Young

Barter

Soul

2022

Osteoarthritis and Cartilage

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“…Ten citations were retrieved for further full-text review; two out of the 10 studies investigated the association of FTO polymorphism with hand or temporomandibular joint (TMJ) OA, respectively. Eventually, we identified eight eligible citations for systematic review (7)(8)(9)(16)(17)(18)(19)(20) and six studies for meta-analysis (7)(8)(9)(16)(17)(18). The characteristics and quality of these included studies are summarized in Table 1.…”

Section: Characteristics Of the Included Studies For Meta-analysismentioning

confidence: 99%

“…These available cohort studies were conducted in three countries (number of studies): the UK (2), Finland (1); and China (3) for meta-analysis, and the other two studies synthesized rs8044769 SNP and OA risk in different independent study cohorts (19,20). Four FTO polymorphisms rs8044769 (7,9,16,19,20), rs12149832 (8), rs9939609 (18), rs1558902 (17) were investigated in this meta-analysis and systematic review. These results of quality assessment were not performed as one studies was from abstract (18) and two studies from several cohorts (19,20).…”

Section: Characteristics Of the Included Studies For Meta-analysismentioning

confidence: 99%

Association between fat mass and obesity-related variant and osteoarthritis risk: Integrated meta-analysis with bioinformatics

Zhao

Chin

et al. 2022

Front. Med.

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ObjectiveThe association of fat mass and obesity-related (FTO) gene with osteoarthritis (OA) risk has been investigated in multiple genome-wide association studies but showed inconsistent results. Our study aimed to assess FTO expression in different OA sequencing datasets and to meta-analyze whether FTO polymorphism was associated with the risk of osteoarthritis.MethodGene expression profiles were obtained from ArrayExpress, Gene Expression Omnibus (GEO), and BioProject databases. Three electronic databases including PubMed and EMBASE were systematically retrieved to identify articles exploring the association between FTO polymorphisms and OA risk published before September 2022. Summary odds ratios (ORs) and corresponding 95% confidence intervals (95% CIs) were calculated to perform the result. Stata software was utilized to conduct analyses on predetermined ethnicity and gender subgroups and sensitivity.ResultsFTO gene was differentially expressed in the datasets from the UK. This systematic review and meta-analysis encompasses eight studies that revealed a significant association between FTO polymorphisms and OA risk [OR 1.07, 95% CI (1.03, 1.11), P < 0.001] in the overall population. In subgroup analysis, a marked association was observed in European Caucasian [OR 1.08, 95% CI (1.04–1.12), P < 0.001] and North American Caucasian with the Asian subgroups [OR 0.98, 95% CI (0.83–1. 6), P = 0.83] as an exception. Among the studies, four of them demonstrated attenuation in their OA risk after body mass index (BMI) adjustment in Caucasian populations.ConclusionFTO significant differential expression was associated with the increased risk of OA in Caucasian populations. Nevertheless, the causality between FTO polymorphisms and OA risk remains largely elusive. Hence, further studies with larger sample size are necessary to validate whether FTO gene polymorphism contributes to OA susceptibility.

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“…As a result of 24 GWAS conducted so far, 124 SNPs of 95 candidate genes associated with OA at various locations (KOA, hip joint OA, arm joint OA) have been established [ 15 ], among which 87 SNPs are linked with KOA at the genome-wide level ( p < 5 × 10 −8 ) [ 16 ]. At the same time, despite the large array of GWAS data for KOA, the number of replication studies performed is quite limited [ 17 , 18 , 19 , 20 , 21 , 22 , 23 ]. As a result of these replicative studies, associations with KOA were confirmed only for single GWAS-important SNPs: rs143383 GDF5 , rs4867568 LOC105374701 , rs3884606 FGF18 , rs10947262 BTNL2/TSBP1-AS1 , and rs7639618 COL6A4P1 .…”

Section: Introductionmentioning

confidence: 99%

“…As a result of these replicative studies, associations with KOA were confirmed only for single GWAS-important SNPs: rs143383 GDF5 , rs4867568 LOC105374701 , rs3884606 FGF18 , rs10947262 BTNL2/TSBP1-AS1 , and rs7639618 COL6A4P1 . Notably, the link with KOA in Asian populations was confirmed for three SNPs (rs143383 GDF5 , rs4867568 LOC105374701 , and rs3884606 FGF18 ) [ 22 , 23 ], and in European populations or mixed samples of Europeans and Asians for only two SNPs (rs10947262 BTNL2/TSBP1-AS1 , rs7639618 COL6A4P1 ) [ 17 , 18 ].…”

Section: Introductionmentioning

confidence: 99%

Intergenic Interactions of SBNO1, NFAT5 and GLT8D1 Determine the Susceptibility to Knee Osteoarthritis among Europeans of Russia

Novakov

Novakova

Churnosova

et al. 2023

Life

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This study was conducted to examine the associations between genome-wide association studies (GWAS)-important single nucleotide polymorphisms (SNPs) and knee osteoarthritis (KOA) among Europeans of Russia. The present replicative study (“patient-control” design has been used) was carried out on 1000 DNA samples from KOA (n = 500) and KOA-free (n = 500) participants. Ten GWAS-important for KOA SNPs of eight candidate genes (LYPLAL1, GNL3, GLT8D1, SBNO1, WWP2, NFAT5, TGFA, GDF5) were studied. To assess the link between SNPs and KOA susceptibility, logistic regression (to establish independent SNP effects) and MB-MDR (to identify SNP–SNP interactions) were used. As a result of this genetic analysis, the associations of individual SNPs with KOA have not been proven. Eight loci out of ten tested SNPs interacted with each other (within twelve genetic models) and determined susceptibility to KOA. The greatest contribution to the disease development were made by three polymorphisms/genes such as rs6976 (C>T) GLT8D1, rs56116847 (G>A) SBNO1, rs6499244 (T>A) NFAT5 (each was included in 2/3 [8 out 12] KOA-responsible genetic interaction models). A two-locus epistatic interaction of rs56116847 (G >A) SBNO1 × rs6499244 (T>A) NFAT5 determined the maximum percentage (0.86%) of KOA entropy. KOA-associated SNPs are regulatory polymorphisms that affect the expression/splicing level, epigenetic modification of 72 genes in KOA-pathogenetically significant organs such as skeletal muscles, tibial arteries/nerves, thyroid, adipose tissue, etc. These putative KOA-effector genes are mainly involved in the organization/activity of the exoribonuclease complex and antigen processing/presentation pathways. In conclusion, KOA susceptibility among Europeans of Russia is mediated by intergenic interactions (but not the main effects) of GWAS-important SNPs.

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A novel variant near LSP1P3 is associated with knee osteoarthritis in the Chinese population

Cited by 10 publications

References 28 publications

Osteoarthritis year in review: genetics, genomics, epigenetics

Osteoarthritis year in review: genetics, genomics, epigenetics

Association between fat mass and obesity-related variant and osteoarthritis risk: Integrated meta-analysis with bioinformatics

Intergenic Interactions of SBNO1, NFAT5 and GLT8D1 Determine the Susceptibility to Knee Osteoarthritis among Europeans of Russia

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