Genetic association study of common variants in TGFB1 and IL-6 with developmental dysplasia of the hip in Han Chinese population

Ma, Wenlong; Zha, Zhuqing; Chen, Ke; Chen, Honggan; Wu, Yixin; Ma, Jianbing; Zeng, Si-Xiang; Zhi, Liqiang; Yao, Shuxin

doi:10.1038/s41598-017-11185-1

Cited by 20 publications

(17 citation statements)

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“…The DDH is one of the most common congenital skeletal abnormalities in newborns and infants, with multiple variations in incidence rates due to different diagnostic methods and the time of diagnosis. [16,17] In the literature, it is estimated that the incidence of DDH is between 1.5 and 20/1000 newborns, being 4 to 8 times more frequent in females than males. [18–21]…”

Section: Discussionmentioning

confidence: 99%

“…[3] This complex developmental disorder is the result of genetic and nongenetic risk factors. [6,16–17] The latter factors include the female gender of the child. [25–28] Regarding ultrasound examination of the right hips, in the present study we obtained for stage IA a higher frequency with statistical significance for males (90.2%), comparing with females (84.6%), with a P value of .03.…”

Section: Discussionmentioning

confidence: 99%

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Musculoskeletal ultrasound: a useful tool for diagnosis of hip developmental dysplasia

Mureșan¹,

Mărginean²,

Voidăzan

et al. 2019

Medicine

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Developmental dysplasia of the hip (DDH) is one of the most common congenital abnormalities of the musculoskeletal apparatus in newborns. The aim of this study was to analyze the contribution of ultrasonography in the detection of DDH in newborns and infants, identifying the regional incidence of this pathology in the central area of Romania, emphasizing the risk factors that underlie DDH etiopathogenicity.This article represents a retrospective study of 847 newborns and infants examined in the Imagistic Department of a medical center from the central area of Romania, between January 1 and December 31, 2016. The ultrasound examinations were performed for the bilateral coxofemoral joints, using the method and technique described by Graf. For subjects born in the same medical center, data regarding mother's age, birth weights, and type of delivery (natural vs. caesarian section) were statistically analyzed.In our study group, the frequency of ultrasound diagnosis obtained from the examinations of right and left hips showed that the most frequent stage was type IA, and the rarest stage was III. The IA stage of right coxofemoral joints (87.3%) was higher than in the left coxofemoral joints (87.2%). The incidence of hip dysplasia (type III) diagnosed with ultrasound examinations in subjects from the central area of Romania was 0.2% (0.1% in both hips and 0.1% for the left coxofemoral joint).The musculoskeletal ultrasound examination is effective in early detection of hip dysplasia. The implementation of national and regional programs that promote indications, risk factors, and the screening age for DDH in both rural and urban areas could be a step forward in the early diagnosis of hip dysplasia for newborns and infants. The low incidence of DDH from our study group is not able to identify the role of advanced age of the mother, high birth weight of the newborn, or caesarean section as risk factors involved in the etiology of hip dysplasia. The implementation of national and regional programs that promote the musculoskeletal ultrasound as a screening imagistic investigation for DDH, in both rural and urban areas, could be a step forward in the early diagnosis of hip dysplasia for newborns and infants.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Musculoskeletal ultrasound: a useful tool for diagnosis of hip developmental dysplasia

Mureșan¹,

Mărginean²,

Voidăzan

et al. 2019

Medicine

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“…Furthermore, Jin et al found that GDF5 is important in the etiology of congenital dysplasia of the hip [13]. A recent study showed that TGFB1 played a genetic role in the risk of DDH [9]. All of these indicated the complex genetic components in DDH occurrence.…”

Section: Discussionmentioning

confidence: 99%

“…Several DDH susceptibility genes (e.g. GDF5, TBX4, ASPN, PAPPA2 and TGFB1) were discovered by association study in Chinese and Caucasian populations [9][10][11][12][13]. Gene mutations not only confer the sequence changes, but can also elicit certain structural change in the microenvironment [14,15].…”

Section: Introductionmentioning

confidence: 99%

Genetic variant of COL11A2 gene is functionally associated with developmental dysplasia of the hip in Chinese Han population

Jiang

et al. 2020

Aging

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Objectives: Developmental dysplasia of the hip (DDH) is a common skeletal disorder. This study was conducted to demonstrate the association between DDH and a polymorphism rs9277935 of COL11A2 gene. Results: A significant difference in genotype distribution in a recessive model (TT+GT vs. GG) between two groups (P=0.017) was demonstrated. Analysis in female patients showed significantly greater frequency of minor allele G(0.49 vs. 0.43, p=0.024) and significantly higher distribution of GG genotype (p=0.006). DDH patients were found to have significantly lower COL11A2 expression than controls. Moreover, DDH patients with rs9277935 genotype TT have a significantly increased expression of COL11A2 than those with genotype GG. COL11A2 demonstrated chondrogenic properties in vitro. Conclusion: Polymorphism rs9277935 of gene COL11A2 is a functional variant regulating the expression and the chondrogenic properties of COL11A2 in DDH in Chinese Han population. Methods: A case-control candidate gene association study was conducted in 945 patients (350 radiologically confirmed DDH patients and 595 healthy controls). Difference of COL11A2 expression in hip joint tissue was compared between the patients and the controls. Allelic difference in Col11a2 expression by rs9277935 was assessed with luciferase activity. Chondrogenic effects of Col11a2 signaling on BMSCs were also determined in vitro.

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“…TGF β1-29C/T (rs1800470) is a polymorphism that has been correlated to OA among Japanese women, to hip OA among adults, to hand OA among Finnish women, and to arthritis in twenty-two case studies meta-analysis [26,[30][31][32]. While its functional role in pathogenesis remains unclear, there has been some evidence of it affecting TGF β1 secretion and function in hepatocytes [26,33]. TT genotype and T allele are the variants that have been reported to increase susceptibility to OA [24].…”

Section: Introductionmentioning

confidence: 99%

Genetic markers of osteoarthritis: early diagnosis in susceptible Pakistani population

et al. 2021

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Background and aim Osteoarthritis (OA) is a multiple factorial disease with unidentified specific markers. The alternate method such as biochemical and genetic markers for the diagnosis of osteoarthritis is an undeniable need of the current era. In the present study, we aimed to investigate the association of interleukin-6 (IL-6)(IL-6-174G/C), transforming growth factor-β1 (TGF-beta1-29C/T), and calmodulin 1 gene-16C/T (CALM1-16C/T) polymorphism in clinically definite Pakistani OA patients and matching controls. Methods The study design was based on biochemical analysis of OA via serum hyaluronic acid (HA) enzyme-linked immunosorbent assay (ELISA) test and genetic analysis based on amplification refractory mutation system (ARMS) PCR. Statistical evaluations of allele probabilities were carried through chi-squared test. This study includes 295 subjects including 100 OA patients, 105 OA susceptible, and 90 controls. Results HA levels obtained were distinct for all the populations: patients with a mean value of ± 5.15, susceptible with mean value of ± 2.27, and control with mean value of ± 0.50. The prevalent genotypes in OA were GG genotype for IL-6-174G/C, CT genotypes for TGF β1-29C/T, and TT genotype for CALM1-16C/T polymorphism. A significant P value of 0.0152 is obtained as a result of the comparison among the patients and controls on the number of individuals possessing the disease-associated genotypes. Conclusions The positive association of GG genotype for IL-6-174G/C, TT genotype for CALM1-16C/T polymorphism in OA while high prevalence of CT TGF β1-29 C/T genotypes in susceptible population in our study group implies these polymorphisms can serve as susceptible marker to OA and genetic factors for screening OA patients in Pakistan. There might be other factors that may influence disease susceptibility. However, further investigations on larger population are required to determine the consequences of genetic variations for prediagnosis of OA.

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Genetic association study of common variants in TGFB1 and IL-6 with developmental dysplasia of the hip in Han Chinese population

Cited by 20 publications

References 40 publications

Musculoskeletal ultrasound: a useful tool for diagnosis of hip developmental dysplasia

Musculoskeletal ultrasound: a useful tool for diagnosis of hip developmental dysplasia

Genetic variant of COL11A2 gene is functionally associated with developmental dysplasia of the hip in Chinese Han population

Genetic markers of osteoarthritis: early diagnosis in susceptible Pakistani population

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