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

Aging ◽  
2020 ◽  
Vol 12 (9) ◽  
pp. 7694-7703
Author(s):  
Renjie Xu ◽  
Xin Jiang ◽  
Junlan Lu ◽  
Kexin Wang ◽  
Ye Sun ◽  
...  
Keyword(s):  
Genetic Variant ◽  
Developmental Dysplasia ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Dysplasia Of The Hip ◽  
Col11a2 Gene

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

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
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.

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

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.

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

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.

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

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.

scholarly journals Genetic variant rs72613567 of HSD17B13 gene reduces alcohol‐related liver disease risk in Chinese Han population

2020 ◽  
Vol 40 (9) ◽  
pp. 2194-2202
Author(s):  
Haizhen Chen ◽  
Yanfang Zhang ◽  
Tongsheng Guo ◽  
Funing Yang ◽  
Yuanli Mao ◽  
...  
Keyword(s):  
Liver Disease ◽  
Genetic Variant ◽  
Disease Risk ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Related Liver Disease

scholarly journals Association Between a CCL17 Genetic Variant and Risk of Coronary Artery Disease in a Chinese Han Population

2018 ◽  
Vol 82 (1) ◽  
pp. 224-231 ◽  
Author(s):  
Yicong Ye ◽  
Xinglin Yang ◽  
Bo Long ◽  
Haiyu Pang ◽  
Yicheng Zhu ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Genetic Variant ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Artery Disease

IL-28B Genetic Variant Is Associated with the Risk of Schizophrenia in the Chinese Han Population

2012 ◽  
Vol 31 (6) ◽  
pp. 988-992 ◽  
Author(s):  
Chunxia Chen ◽  
Bin Tan ◽  
Yi Zhou ◽  
Juan Zhou ◽  
Yong He ◽  
...  
Keyword(s):  
Genetic Variant ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population
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