Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the Hip
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 autoso...
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MDPI AG
2021-06-01
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| Series: | Genes |
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| author | Stefan Harsanyi Radoslav Zamborsky Lubica Krajciova Milan Kokavec Lubos Danisovic |
| author_facet | Stefan Harsanyi Radoslav Zamborsky Lubica Krajciova Milan Kokavec Lubos Danisovic |
| author_sort | Stefan Harsanyi |
| collection | DOAJ |
| description | 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 <i>IL6</i> gene, rs143383 located in the 5′ untranslated region (UTR) of the <i>GDF5</i> gene and rs726252 located in the fifth intron of the <i>PAPPA2</i> 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 <i>GDF5</i> gene (<i>p</i> = 0.047), where the T allele was over-expressed in the study group. Meanwhile, in the matter of <i>IL6</i> and <i>PAPPA2</i>, we found no association with DDH (<i>p</i> = 0.363 and <i>p</i> = 0.478, respectively). Conclusions: These results suggest that there is an association between DDH and <i>GDF5</i> polymorphisms and that the T allele is more frequently presents in patients suffering from DDH. |
| first_indexed | 2024-03-09T04:49:21Z |
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| id | doaj.art-ecdd03b0861d4ffaa9f296c8b8865fd8 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T04:49:21Z |
| publishDate | 2021-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-ecdd03b0861d4ffaa9f296c8b8865fd82023-12-03T13:12:55ZengMDPI AGGenes2073-44252021-06-0112798610.3390/genes12070986Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the HipStefan Harsanyi0Radoslav Zamborsky1Lubica Krajciova2Milan Kokavec3Lubos Danisovic4Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava, Sasinkova 4, 811 08 Bratislava, SlovakiaOrthopaedic Clinic, Faculty of Medicine, Comenius University in Bratislava and National Institute of Children’s Diseases, Limbova 1, 833 40 Bratislava, SlovakiaInstitute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava, Sasinkova 4, 811 08 Bratislava, SlovakiaOrthopaedic Clinic, Faculty of Medicine, Comenius University in Bratislava and National Institute of Children’s Diseases, Limbova 1, 833 40 Bratislava, SlovakiaInstitute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava, Sasinkova 4, 811 08 Bratislava, SlovakiaBackground: 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 <i>IL6</i> gene, rs143383 located in the 5′ untranslated region (UTR) of the <i>GDF5</i> gene and rs726252 located in the fifth intron of the <i>PAPPA2</i> 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 <i>GDF5</i> gene (<i>p</i> = 0.047), where the T allele was over-expressed in the study group. Meanwhile, in the matter of <i>IL6</i> and <i>PAPPA2</i>, we found no association with DDH (<i>p</i> = 0.363 and <i>p</i> = 0.478, respectively). Conclusions: These results suggest that there is an association between DDH and <i>GDF5</i> polymorphisms and that the T allele is more frequently presents in patients suffering from DDH.https://www.mdpi.com/2073-4425/12/7/986developmental dysplasia of the hipDDHassociation studysingle-nucleotide polymorphismSNPgenotyping |
| spellingShingle | Stefan Harsanyi Radoslav Zamborsky Lubica Krajciova Milan Kokavec Lubos Danisovic Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the Hip Genes developmental dysplasia of the hip DDH association study single-nucleotide polymorphism SNP genotyping |
| title | Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the Hip |
| title_full | Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the Hip |
| title_fullStr | Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the Hip |
| title_full_unstemmed | Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the Hip |
| title_short | Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the Hip |
| title_sort | genetic study of il6 gdf5 and pappa2 in association with developmental dysplasia of the hip |
| topic | developmental dysplasia of the hip DDH association study single-nucleotide polymorphism SNP genotyping |
| url | https://www.mdpi.com/2073-4425/12/7/986 |
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