{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T05:31:25Z","timestamp":1778045485769,"version":"3.51.4"},"reference-count":29,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Idiopathic congenital talipes equinovarus (ICTEV) is one of the most common congenital deformities of children, and dysplasia of the striated muscle may be one of the causes of ICTEV. Previous studies have shown that polymorphisms of the rs4075583 SNP in the tropomyosin gene 1 (\n                      <jats:italic toggle=\"yes\">TPM1<\/jats:italic>\n                      ) were associated with ICTEV in Caucasian children. However, there are no studies investigating the correlations of\n                      <jats:italic toggle=\"yes\">TPM<\/jats:italic>\n                      gene polymorphisms with the risk of ICTEV in Chinese children.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      We conducted a case-control study, including 430 children with ICTEV and 891 ICTEV-free children. We explored the potential correlations of three\n                      <jats:italic toggle=\"yes\">TPM<\/jats:italic>\n                      gene polymorphisms (\n                      <jats:italic toggle=\"yes\">TPM1<\/jats:italic>\n                      \/rs4075583 G&gt;A, tropomyosin gene 2 (\n                      <jats:italic toggle=\"yes\">TPM2<\/jats:italic>\n                      )\/rs2145925 C&gt;T, and\n                      <jats:italic toggle=\"yes\">TPM2<\/jats:italic>\n                      \/rs2025126 G&gt;A) with ICTEV risk. The three single nucleotide polymorphisms (SNPs) were genotyped using a TaqMan method. We calculated the odds ratios (ORs) and adjusted ORs and their 95% confidence intervals (CIs) to explore the associations between these selected SNP polymorphisms and ICTEV.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      <jats:italic toggle=\"yes\">TPM1<\/jats:italic>\n                      rs4075583\u2009A was found to be associated with an increased ICTEV risk (AA vs. GG: adjusted OR\u2009=\u20091.70, 95% CI\u2009=\u20091.15-2.49,\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      \u2009=\u20090.007; and GG\/GA vs. AA: adjusted OR\u2009=\u20091.62, 95% CI\u2009=\u20091.14-2.31,\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      \u2009=\u20090.0071) after adjusting for age and sex. In addition, a risk effect of rs4075583 GA\/AA with ICETV was observed for patients with affected right feet (adjusted OR\u2009=\u20091.62, 95% CI\u2009=\u20091.10-2.39,\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      \u2009=\u20090.014) in the stratified analysis. However, there were no significant differences in the risk for ICTEV associated with the rs2145925 and rs2025126 polymorphisms.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>\n                      These results indicate that the\n                      <jats:italic toggle=\"yes\">TPM1<\/jats:italic>\n                      rs4075583 G\u2009&gt;\u2009A polymorphism is associated with ICTEV risk in a southern Chinese population; however, this finding needs to be confirmed in larger studies and through mechanistic studies.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/gtmb.2020.0248","type":"journal-article","created":{"date-parts":[[2021,5,4]],"date-time":"2021-05-04T16:18:21Z","timestamp":1620145101000},"page":"355-360","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Association Between\n                    <i>TPM1<\/i>\n                    Gene Polymorphisms and Idiopathic Congenital Talipes Equinovarus Risk in a Chinese Population"],"prefix":"10.1177","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7195-0335","authenticated-orcid":false,"given":"Jingchun","family":"Li","sequence":"first","affiliation":[{"name":"Department of Paediatric Orthopaedics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guanghui","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedics, Hunan Children's Hospital, Changsha, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaopeng","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedics, Kunming Children's Hospital, Kunming, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiantao","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedics, Wuhan Medical and Healthcare Center for Women and Children, Wuhan, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shunyou","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedics, Fuzhou second Hospital of Xiamen University, Fuzhou, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shengping","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of the First Orthopaedics, Shenzhen Children's Hospital, Shenzhen, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Gong","sequence":"additional","affiliation":[{"name":"Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yiqiang","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Paediatric Orthopaedics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongwen","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Paediatric Orthopaedics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2021,5,17]]},"reference":[{"key":"e_1_3_4_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/01241398-200303000-00025"},{"key":"e_1_3_4_3_1","doi-asserted-by":"publisher","DOI":"10.4103\/jmsr.jmsr_30_17"},{"key":"e_1_3_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.09.006"},{"key":"e_1_3_4_5_1","first-page":"7732","article-title":"A novel homozygous TPM1 mutation in familial pediatric hypertrophic cardiomyopathy and in silico screening of potential targeting drugs","volume":"24","author":"Carlus SJ","year":"2020","unstructured":"Carlus SJ, , Almuzaini IS, , Karthikeyan M, et al. (2020) A novel homozygous TPM1 mutation in familial pediatric hypertrophic cardiomyopathy and in silico screening of potential targeting drugs. Eur Rev Med Pharmacol Sci, 24:7732-7744.","journal-title":"Eur Rev Med Pharmacol Sci"},{"key":"e_1_3_4_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.9.680"},{"key":"e_1_3_4_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0054100"},{"key":"e_1_3_4_8_1","doi-asserted-by":"publisher","DOI":"10.1302\/0301-620X.88B3.16685"},{"key":"e_1_3_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33130"},{"key":"e_1_3_4_10_1","doi-asserted-by":"publisher","DOI":"10.1302\/0301-620X.76B3.8175852"},{"key":"e_1_3_4_11_1","doi-asserted-by":"publisher","DOI":"10.1302\/0301-620X.101B6.BJJ-2018-1421.R1"},{"key":"e_1_3_4_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11999-008-0694-5"},{"key":"e_1_3_4_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/BLO.0b013e31805d8649"},{"key":"e_1_3_4_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.bpo.0000173248.96936.90"},{"key":"e_1_3_4_15_1","doi-asserted-by":"publisher","DOI":"10.5435\/JAAOS-D-15-00624"},{"key":"e_1_3_4_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/BPO.0000000000000953"},{"key":"e_1_3_4_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11832-009-0179-4"},{"key":"e_1_3_4_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11832-012-0444-9"},{"key":"e_1_3_4_19_1","doi-asserted-by":"publisher","DOI":"10.1080\/19490992.2016.1201619"},{"key":"e_1_3_4_20_1","doi-asserted-by":"publisher","DOI":"10.4103\/jmsr.jmsr_94_19"},{"key":"e_1_3_4_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10974-019-09560-8"},{"key":"e_1_3_4_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980901)79:2<90::AID-AJMG3>3.0.CO;2-R"},{"key":"e_1_3_4_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/BPB.0000000000000321"},{"key":"e_1_3_4_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/01202412-200507000-00009"},{"key":"e_1_3_4_25_1","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.RVW.18.00124"},{"key":"e_1_3_4_26_1","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.17.01049"},{"key":"e_1_3_4_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35955"},{"key":"e_1_3_4_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34167"},{"key":"e_1_3_4_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11999-016-4788-1"},{"key":"e_1_3_4_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1701-7"}],"container-title":["Genetic Testing and Molecular Biomarkers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/gtmb.2020.0248","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2020.0248","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2020.0248","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T07:22:58Z","timestamp":1777447378000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/full\/10.1089\/gtmb.2020.0248"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5]]},"references-count":29,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,5]]}},"alternative-id":["10.1089\/gtmb.2020.0248"],"URL":"https:\/\/doi.org\/10.1089\/gtmb.2020.0248","relation":{},"ISSN":["1945-0265","1945-0257"],"issn-type":[{"value":"1945-0265","type":"print"},{"value":"1945-0257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5]]}}}