The Association Between BMP-2, UQCC1 and CX3CR1 Polymorphisms and the Risk of Developmental Dysplasia of the Hip

Gümüş, Evren; Temiz, Ebru; Sarıkaya, Baran; Yüksekdağ, Özgür; Sipahioğlu, Serkan; Gönel, Ataman

doi:10.1007/s43465-020-00235-y

Cited by 8 publications

(3 citation statements)

References 36 publications

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“…In a GWAS study in the Chinese Han population, rs6060373(UQCC1) was shown to play a role in the etiology of DDH (48). In contrast, in a case-control study of a Turkish population, UQCC1 rs6060373 polymorphisms were not associated with DDH (49). In a recent alpha angle (a proxy for cam morphology) meta GWAS in the European populations, UQCC1 was found as a candidate gene for cam morphology (9).…”

Section: Discussionmentioning

confidence: 94%

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Genome-wide association study of DXA-derived hip morphology identifies associations with 4 loci in Chinese populations

Zheng,

Ge,

Faber

et al. 2024

Preprint

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Objective: To identify genetic factors associated with hip morphology in Chinese populations. Methods: An 85-point Statistical Shape Model (SSM) was applied to extract hip shape modes (HSMs). Diameter of the femoral head (DFH), femoral neck width (FNW) and hip axis length (HAL) were obtained from SSM points using Python scripts. Genome-wide association study (GWAS) was conducted in the Shanghai Changfeng (SC) cohort (N=5,310) for each phenotype of DXA-derived hip morphology. Replication of GWAS was conducted in the Core cohort (N=917). Results: GWAS identified a total of 331 SNPs in 14 loci that were associated with features of hip morphology in the SC cohort. 4 of 14 loci were replicated in the Core cohort: rs143383 (GDF5) associated with HAL (P = 9.4×10−10), rs11614913 (MIR196A2) associated with HSM9 (P = 2.8 ×10−10), rs35049516 (SUPT3H) associated with HSM4 (P = 4.3×10−10) and rs7761119 (UST) associated with HSM8 (P = 1.7×10−8). Of these, two loci were known to affect hip morphology, including rs143383 (GDF5) and rs35049516 (SUPT3H), whereas rs11614913 (MIR196A2) and rs7761119 (UST) were novel. There was also overlap with previous GWAS of HSM and other hip-based metrics. Conclusions: In the largest East Asian ancestry hip shape GWAS to date we identified and replicated four loci associated with different aspects of hip morphology (GDF5, MIR196A2, SUPT3H, UST). Strong SNP-to-gene evidence was found. All four loci have previously been implicated in musculoskeletal development, however this is the first report that rs11614913 (MIR196A2) and rs7761119 (UST) are associated with hip morphology. Despite the small sample size, this study paves the way for trans-ancestry meta-analyses.

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Section: Discussionmentioning

confidence: 94%

“…Relatively high SNP heritability was estimated by GCTA in hip morphology GWAS (HSM6: h 2 =0. 49 5). The bivariate GREML analysis showed moderate genetic correlation between HAL and FN BMD (rG: 0.46 [0.27, 0.66]), and also between HSM5 and total hip BMD (0.47 [0.14, 0.79]) (Supplementary Table 6).…”

Section: Hip Morphology Gwasmentioning

confidence: 99%

Genome-wide association study of DXA-derived hip morphology identifies associations with 4 loci in Chinese populations

Zheng,

Ge,

Faber

et al. 2024

Preprint

View full text Add to dashboard Cite

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“…The polygenic approach suggests that a single polymorphism in an associated gene is not sufficient to cause the disorder, so the creation of a polygenic network could significantly improve the diagnostic and therapeutic approach. In the light of this approach, we need more studies to focus on more SNPs or their combination, which could prove causative for developing DDH [ 20 ].…”

Section: Discussionmentioning

confidence: 99%

Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the Hip

Harsanyi

Zamborský

Krajčíová

et al. 2021

Genes

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Background: Developmental dysplasia of the hip (DDH) is one of the most prevalent skeletal disorders. DDH is considered a pathologic condition with polygenic background, but environmental and mechanic factors significantly contribute to its multifactorial etiology. Inheritance consistent with autosomal dominant type has also been observed. Single-nucleotide polymorphisms (SNPs) in various genes mostly related to formation of connective tissue are studied for a possible association with DDH. Methods: We genotyped three SNPs, rs1800796 located in the promoter region of the IL6 gene, rs143383 located in the 5′ untranslated region (UTR) of the GDF5 gene and rs726252 located in the fifth intron of the PAPPA2 gene. The study consisted of 45 subjects with DDH and 85 controls from all regions of Slovakia. Results: Association between DDH occurrence and studied genotypes affected by aforementioned polymorphisms was confirmed in the case of rs143383 in the GDF5 gene (p = 0.047), where the T allele was over-expressed in the study group. Meanwhile, in the matter of IL6 and PAPPA2, we found no association with DDH (p = 0.363 and p = 0.478, respectively). Conclusions: These results suggest that there is an association between DDH and GDF5 polymorphisms and that the T allele is more frequently presents in patients suffering from DDH.

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Identification of KANSL1 as a novel pathogenic gene for developmental dysplasia of the hip

Wang

et al. 2022

J Mol Med

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The Association Between BMP-2, UQCC1 and CX3CR1 Polymorphisms and the Risk of Developmental Dysplasia of the Hip

Cited by 8 publications

References 36 publications

Genome-wide association study of DXA-derived hip morphology identifies associations with 4 loci in Chinese populations

Genome-wide association study of DXA-derived hip morphology identifies associations with 4 loci in Chinese populations

Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the Hip

Identification of KANSL1 as a novel pathogenic gene for developmental dysplasia of the hip

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