Association analysis between HOXD9 genes and the development of developmental dysplasia of the hip in Chinese female Han population

Background. Developmental dysplasia of the hip (DDH) is a developmental disorder which is reported to be associated with hip instability. When untreated, it can lead to irreversible joint damage. DDH is known to be a multifactorial disease involving genetic, mechanical and environmental factors. The greatest causative potential is attributed to the genetic component. Growth Differentiation Factor 5 (GDF5) is among the most studied genes associated with processes of regeneration and maintenance of joints. The aim of this work was to analyse the association of SNP rs143383 in the GDF5 gene and the occurrence of DDH, along with association with various contributing factors in the Caucasian population. Material and methods. A total of 118 samples were analysed for the presence of the mutation. DNA was isolated from all individuals from peripheral blood. SNP rs143383 in the GDF5 gene was genotyped using the TaqMan assay. A standard chi-square test was used to compare allele and genotype distributions in patients and healthy controls. Results. The association analysis of genotypes of DDH and rs143383 revealed a significant association. Also, the association of GDF5 and selected contributing factors was statistically significant in female gender (p=0.002), family history (p<0.001), count of pregnancy (p=0.009), laterality of hip involvement and initial US examination. Conclusions. 1. The results indicate an important effect of rs143383 polymorphism in the GDF5 gene on DDH development. 2. However, our results also suggest that rs143383 is not the only contributing factor in the genetic component of DDH.

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A Replication Study for the Association of rs726252 in PAPPA2 with Developmental Dysplasia of the Hip in Chinese Han Population

BioMed Research International ◽

10.1155/2014/979520 ◽

2014 ◽

Vol 2014 ◽

pp. 1-5 ◽

Cited By ~ 4

Author(s):

Dongquan Shi ◽

Wei Sun ◽

Xingquan Xu ◽

Zheng Hao ◽

Jin Dai ◽

...

Keyword(s):

Hip Dislocation ◽

Developmental Dysplasia ◽

Replication Study ◽

Chinese Han Population ◽

Taqman Assay ◽

Genotype Distribution ◽

Chinese Han ◽

Han Population ◽

Significant Difference ◽

Dysplasia Of The Hip

Developmental dysplasia of the hip (DDH) is a common developmental hip disorder, which ranges from mild acetabulum malformation to irreducible hip dislocation. A previous study suggested a significant association of pregnancy-associated plasma protein-A2 (PAPPA2) with DDH susceptibility in Chinese Han population. But with the consideration of the sample size, the association was still debatable. To confirm the association of the reported single nucleotide polymorphism (SNP) in PAPPA2, rs726252 with DDH, we conducted a case-control study in a larger number of subjects. We genotyped rs726252 in 697 DDH subjects and 707 control subjects by TaqMan assay. The association between this SNP and DDH was evaluated statistically. No significant difference was found in any comparison of genotype distribution nor allele frequency between cases and controls. Our replication study indicated that the association between rs726252 and DDH in Chinese Han population was debatable. The association between PAPPA2 and DDH should be evaluated by additional studies.

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Replicative Verification of Susceptibility Genes Previously Identified from Families with Segregating Developmental Dysplasia of the Hip

10.21203/rs.3.rs-46911/v1 ◽

2020 ◽

Author(s):

Xiaowen Xu ◽

Binbin Wang ◽

Yufan Chen ◽

Weizheng Zhou ◽

Lianyong Li

Keyword(s):

Sanger Sequencing ◽

Transmembrane Protein ◽

Hip Dislocation ◽

Developmental Dysplasia ◽

Chinese Han Population ◽

Reference Sequence ◽

Chinese Han ◽

Han Population ◽

Joint Deformity ◽

Dysplasia Of The Hip

Abstract Background: Developmental dysplasia of the hip (DDH) is a complex hip joint deformity with effects ranging from acetabulum malformation to irreversible hip dislocation. Previous studies suggest a significant association of four variations, Teneurin transmembrane protein 3 (TENM3) (chr4:183721398), Heparan sulfate proteoglycan 2 (HSPG2) (chr1:22201470), ATPase plasma membrane Ca2+ transporting 4 (ATP2B4) (chr1:203682345), and Prostaglandin F receptor (PTGFR) (chr1:79002214), with DDH susceptibility in families with segregating DDH. However, the association was not validated in sporadic cases and remains controversial. To confirm the association of the reported variations in these four genes with DDH, we conducted replicative verification in 250 sporadic samples with DDH from a Chinese Han population. Methods: We conducted Sanger sequencing after amplifying the variation sites. The results were compared with the reference sequence from the GRCh37 assembly in UCSC (http://genome.ucsc.edu). Results: Replication analysis of 250 sporadic samples by Sanger sequencing indicated that the four variations, TENM3 (chr4:183721398), HSPG2 (chr1:22201470), ATP2B4 (chr1:203682345), and PTGFR (chr1:79002214), were not associated with the susceptibility to DDH in the Chinese Han population.Conclusions: Further studies should be performed to identify other variations of these four genes that are potentially associated with DDH by whole-exome sequencing and the results should be verified in different populations.

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Replicative verification of susceptibility genes previously identified from families with segregating developmental dysplasia of the hip

Italian Journal of Pediatrics ◽

10.1186/s13052-021-01087-4 ◽

2021 ◽

Vol 47 (1) ◽

Author(s):

Xiaowen Xu ◽

Binbin Wang ◽

Yufan Chen ◽

Weizheng Zhou ◽

Lianyong Li

Keyword(s):

Sanger Sequencing ◽

Transmembrane Protein ◽

Hip Dislocation ◽

Developmental Dysplasia ◽

Chinese Han Population ◽

Reference Sequence ◽

Chinese Han ◽

Han Population ◽

Joint Deformity ◽

Dysplasia Of The Hip

Abstract Background Developmental dysplasia of the hip (DDH) is a complex hip joint deformity with effects ranging from acetabulum malformation to irreversible hip dislocation. Previous studies suggest a significant association of four variations, teneurin transmembrane protein 3 (TENM3, OMIM * 610083) (chr4:183721398), heparan sulfate proteoglycan 2 (HSPG2, OMIM * 142461) (chr1:22201470), ATPase plasma membrane Ca2+ transporting 4 (ATP2B4, OMIM * 108732) (chr1:203682345), and prostaglandin F receptor (PTGFR, OMIM * 600563) (chr1:79002214), with DDH susceptibility in families with segregating DDH. However, the association was not validated in sporadic cases and remains controversial. To confirm the association of the reported variations in these four genes with DDH, we conducted replicative verification in 250 sporadic samples with DDH from a Chinese Han population. Methods We conducted Sanger sequencing after amplifying the variation sites. The results were compared with the reference sequence from the GRCh37 assembly in UCSC (http://genome.ucsc.edu). Results Replication analysis of 250 sporadic samples by Sanger sequencing indicated that the four variations, TENM3 (OMIM * 610083, chr4:183721398), HSPG2 (OMIM * 142461, chr1:22201470), ATP2B4 (OMIM * 108732, chr1:203682345), and PTGFR (OMIM * 600563, chr1:79002214), were not associated with the susceptibility to DDH in the Chinese Han population. Conclusions Further studies should be performed to identify other variations of these four genes that are potentially associated with DDH by whole-exome sequencing and the results should be verified in different populations.

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Association analysis on polymorphisms in WISP3 gene and developmental dysplasia of the hip in Han Chinese population: A case-control study

Gene ◽

10.1016/j.gene.2018.04.020 ◽

2018 ◽

Vol 664 ◽

pp. 192-195 ◽

Cited By ~ 5

Author(s):

Junxin Zhang ◽

Moqi Yan ◽

Yijian Zhang ◽

Huilin Yang ◽

Ye Sun

Keyword(s):

Association Analysis ◽

Chinese Population ◽

Case Control Study ◽

Case Control ◽

Developmental Dysplasia ◽

Han Chinese ◽

Han Chinese Population ◽

Dysplasia Of The Hip ◽

Control Study

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Replicative Verification of Susceptibility Genes Previously Identified from Families with Segregating Developmental Dysplasia of the Hip

10.21203/rs.3.rs-46911/v2 ◽

2020 ◽

Author(s):

Xiaowen Xu ◽

Binbin Wang ◽

Yufan Chen ◽

Weizheng Zhou ◽

Lianyong Li

Keyword(s):

Sanger Sequencing ◽

Transmembrane Protein ◽

Hip Dislocation ◽

Developmental Dysplasia ◽

Chinese Han Population ◽

Reference Sequence ◽

Chinese Han ◽

Han Population ◽

Joint Deformity ◽

Dysplasia Of The Hip

Abstract Background: Developmental dysplasia of the hip (DDH) is a complex hip joint deformity with effects ranging from acetabulum malformation to irreversible hip dislocation. Previous studies suggest a significant association of four variations, teneurin transmembrane protein 3 (TENM3, OMIM * 610083) (chr4:183721398), heparan sulfate proteoglycan 2 (HSPG2, OMIM * 142461 ) (chr1:22201470), ATPase plasma membrane Ca2+ transporting 4 (ATP2B4, OMIM * 108732) (chr1:203682345), and prostaglandin F receptor (PTGFR, OMIM * 600563) (chr1:79002214), with DDH susceptibility in families with segregating DDH. However, the association was not validated in sporadic cases and remains controversial. To confirm the association of the reported variations in these four genes with DDH, we conducted replicative verification in 250 sporadic samples with DDH from a Chinese Han population. Methods: We conducted Sanger sequencing after amplifying the variation sites. The results were compared with the reference sequence from the GRCh37 assembly in UCSC (http://genome.ucsc.edu). Results: Replication analysis of 250 sporadic samples by Sanger sequencing indicated that the four variations, TENM3 (OMIM * 610083, chr4:183721398), HSPG2 (OMIM * 142461, chr1:22201470), ATP2B4 (OMIM * 108732, chr1:203682345), and PTGFR (OMIM * 600563, chr1:79002214), were not associated with the susceptibility to DDH in the Chinese Han population.Conclusions: Further studies should be performed to identify other variations of these four genes that are potentially associated with DDH by whole-exome sequencing and the results should be verified in different populations.

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