巴西人口的种族差异影响了 BMP4 基因变异对非综合征性口腔颚裂易感性的影响。

IF 1.2 4区 医学 Q3 DENTISTRY, ORAL SURGERY & MEDICINE Cleft Palate-Craniofacial Journal Pub Date : 2024-10-01 Epub Date: 2023-06-04 DOI:10.1177/10556656231180086
Lilianny Querino Rocha de Oliveira, Hellen Carolliny de Souza Nicolau, Daniella Reis Barbosa Martelli, Hercílio Martelli-Júnior, Rafaela Scariot, Ana Lúcia Carrinho Ayroza Rangel, Silvia Regina de Almeida Reis, Ricardo D Coletta, Renato Assis Machado
{"title":"巴西人口的种族差异影响了 BMP4 基因变异对非综合征性口腔颚裂易感性的影响。","authors":"Lilianny Querino Rocha de Oliveira, Hellen Carolliny de Souza Nicolau, Daniella Reis Barbosa Martelli, Hercílio Martelli-Júnior, Rafaela Scariot, Ana Lúcia Carrinho Ayroza Rangel, Silvia Regina de Almeida Reis, Ricardo D Coletta, Renato Assis Machado","doi":"10.1177/10556656231180086","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>The study evaluated the association of <i>BMP4</i> tag-SNPs and SNP-SNP interactions involving genes active by BMP4 pathway during craniofacial development in the susceptibility of nonsyndromic orofacial clefts (NSOC) in the Brazilian population.</p><p><strong>Design: </strong>Case-control study.</p><p><strong>Setting: </strong>Brazilian Oral Cleft Group.</p><p><strong>Participants: </strong>The study included 881 healthy controls and 800 patients with different types of NSOC: 232 with cleft lip only (NSCLO), 568 with cleft lip and palate (NSCLP), and 274 with cleft palate only (NSCPO).</p><p><strong>Interventions: </strong>The genomic DNA was genotyped with allelic discrimination assays for five <i>BMP4</i> tag-SNPs (rs11623717, rs17563, rs2071047, rs2761887 and rs4898820), and analyzed their allelic and genotypic associations using multiple logistic regression. The interactions of these variants with genes involved in the <i>BMP4</i> signaling pathway, including <i>FGFR1</i>, <i>GREM1</i>, <i>NOG</i>, <i>VAX1</i> and the 4p16.2 locus, were explored.</p><p><strong>Main outcome measures: </strong><i>BMP4</i> variants in the NSOC risk.</p><p><strong>Results: </strong>Although only nominal <i>p</i> values were identified when the whole sample was considered, subgroup analysis including the patients with high African genomic ancestry showed significant associations of rs2761887 with risk for nonsyndromic cleft lip with or without cleft palate (NSCL  ±  P)[(OR<sub>hom</sub>: 2.16; 95% CI: 1.21-3.85; <i>p</i>  =  0.01) and (OR<sub>rec</sub>: 2.05; 95% CI: 1.21-3.47; <i>p</i>  =  0.006)]. Thirteen significant SNP-SNP interactions involving <i>BMP4</i> and the SNPs at <i>FGFR1</i>, <i>GREM1</i>, <i>NOG</i> and <i>VAX1</i> and at locus 4p16.2 for increased risk of NSCL  ±  P were identified.</p><p><strong>Conclusions: </strong>Our results demonstrate an increased risk of NSCL  ±  P in Brazilian individuals with enrichment of African ancestry in the presence of the <i>BMP4</i> rs2762887 polymorphism, and reveal relevant genetic contribution of SNP-SNP epistatic interactions involving <i>BMP4</i> variants to NSCL  ±  P risk.</p>","PeriodicalId":55255,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"1701-1712"},"PeriodicalIF":1.2000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Ethnic Differences in the Brazilian Population Influence the Impact of <i>BMP4</i> Genetic Variants on Susceptibility of Nonsyndromic Orofacial Clefts.\",\"authors\":\"Lilianny Querino Rocha de Oliveira, Hellen Carolliny de Souza Nicolau, Daniella Reis Barbosa Martelli, Hercílio Martelli-Júnior, Rafaela Scariot, Ana Lúcia Carrinho Ayroza Rangel, Silvia Regina de Almeida Reis, Ricardo D Coletta, Renato Assis Machado\",\"doi\":\"10.1177/10556656231180086\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>The study evaluated the association of <i>BMP4</i> tag-SNPs and SNP-SNP interactions involving genes active by BMP4 pathway during craniofacial development in the susceptibility of nonsyndromic orofacial clefts (NSOC) in the Brazilian population.</p><p><strong>Design: </strong>Case-control study.</p><p><strong>Setting: </strong>Brazilian Oral Cleft Group.</p><p><strong>Participants: </strong>The study included 881 healthy controls and 800 patients with different types of NSOC: 232 with cleft lip only (NSCLO), 568 with cleft lip and palate (NSCLP), and 274 with cleft palate only (NSCPO).</p><p><strong>Interventions: </strong>The genomic DNA was genotyped with allelic discrimination assays for five <i>BMP4</i> tag-SNPs (rs11623717, rs17563, rs2071047, rs2761887 and rs4898820), and analyzed their allelic and genotypic associations using multiple logistic regression. The interactions of these variants with genes involved in the <i>BMP4</i> signaling pathway, including <i>FGFR1</i>, <i>GREM1</i>, <i>NOG</i>, <i>VAX1</i> and the 4p16.2 locus, were explored.</p><p><strong>Main outcome measures: </strong><i>BMP4</i> variants in the NSOC risk.</p><p><strong>Results: </strong>Although only nominal <i>p</i> values were identified when the whole sample was considered, subgroup analysis including the patients with high African genomic ancestry showed significant associations of rs2761887 with risk for nonsyndromic cleft lip with or without cleft palate (NSCL  ±  P)[(OR<sub>hom</sub>: 2.16; 95% CI: 1.21-3.85; <i>p</i>  =  0.01) and (OR<sub>rec</sub>: 2.05; 95% CI: 1.21-3.47; <i>p</i>  =  0.006)]. Thirteen significant SNP-SNP interactions involving <i>BMP4</i> and the SNPs at <i>FGFR1</i>, <i>GREM1</i>, <i>NOG</i> and <i>VAX1</i> and at locus 4p16.2 for increased risk of NSCL  ±  P were identified.</p><p><strong>Conclusions: </strong>Our results demonstrate an increased risk of NSCL  ±  P in Brazilian individuals with enrichment of African ancestry in the presence of the <i>BMP4</i> rs2762887 polymorphism, and reveal relevant genetic contribution of SNP-SNP epistatic interactions involving <i>BMP4</i> variants to NSCL  ±  P risk.</p>\",\"PeriodicalId\":55255,\"journal\":{\"name\":\"Cleft Palate-Craniofacial Journal\",\"volume\":\" \",\"pages\":\"1701-1712\"},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2024-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Cleft Palate-Craniofacial Journal\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1177/10556656231180086\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/6/4 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"DENTISTRY, ORAL SURGERY & MEDICINE\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cleft Palate-Craniofacial Journal","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/10556656231180086","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/6/4 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"DENTISTRY, ORAL SURGERY & MEDICINE","Score":null,"Total":0}
引用次数: 0

摘要

研究目的该研究评估了BMP4标签-SNPs和SNP-SNP相互作用(涉及颅面发育过程中BMP4通路的活性基因)与巴西人群非综合征性口面部裂隙(NSOC)易感性的相关性:设计:病例对照研究:环境:巴西口腔裂隙小组:研究包括 881 名健康对照者和 800 名不同类型的 NSOC 患者:232 名仅唇裂患者(NSCLO)、568 名唇腭裂患者(NSCLP)和 274 名仅腭裂患者(NSCPO):用等位基因辨别检测法对基因组DNA进行基因分型,检测5个BMP4标签-SNPs(rs11623717、rs17563、rs2071047、rs2761887和rs4898820),并用多元逻辑回归分析其等位基因和基因型关联。研究还探讨了这些变异与参与BMP4信号通路的基因(包括FGFR1、GREM1、NOG、VAX1和4p16.2位点)之间的相互作用:主要结果指标:NSOC风险中的BMP4变异:结果:尽管在考虑整个样本时仅确定了名义 p 值,但包括高非洲基因组血统患者在内的亚组分析显示,rs2761887 与非综合征唇裂伴或不伴腭裂(NSCL ± P)风险有显著关联[(ORhom:2.16;95% CI:1.21-3.85;p = 0.01)和(ORrec:2.05;95% CI:1.21-3.47;p = 0.006)]。研究发现,BMP4与FGFR1、GREM1、NOG和VAX1以及位点4p16.2的SNP-SNP之间存在13种明显的相互作用,从而增加了NSCL±P的风险:我们的研究结果表明,BMP4 rs2762887 多态性富含非洲血统的巴西人罹患 NSCL ± P 的风险增加,并揭示了涉及 BMP4 变体的 SNP-SNP 表观相互作用对 NSCL ± P 风险的相关遗传贡献。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Ethnic Differences in the Brazilian Population Influence the Impact of BMP4 Genetic Variants on Susceptibility of Nonsyndromic Orofacial Clefts.

Objective: The study evaluated the association of BMP4 tag-SNPs and SNP-SNP interactions involving genes active by BMP4 pathway during craniofacial development in the susceptibility of nonsyndromic orofacial clefts (NSOC) in the Brazilian population.

Design: Case-control study.

Setting: Brazilian Oral Cleft Group.

Participants: The study included 881 healthy controls and 800 patients with different types of NSOC: 232 with cleft lip only (NSCLO), 568 with cleft lip and palate (NSCLP), and 274 with cleft palate only (NSCPO).

Interventions: The genomic DNA was genotyped with allelic discrimination assays for five BMP4 tag-SNPs (rs11623717, rs17563, rs2071047, rs2761887 and rs4898820), and analyzed their allelic and genotypic associations using multiple logistic regression. The interactions of these variants with genes involved in the BMP4 signaling pathway, including FGFR1, GREM1, NOG, VAX1 and the 4p16.2 locus, were explored.

Main outcome measures: BMP4 variants in the NSOC risk.

Results: Although only nominal p values were identified when the whole sample was considered, subgroup analysis including the patients with high African genomic ancestry showed significant associations of rs2761887 with risk for nonsyndromic cleft lip with or without cleft palate (NSCL  ±  P)[(ORhom: 2.16; 95% CI: 1.21-3.85; p  =  0.01) and (ORrec: 2.05; 95% CI: 1.21-3.47; p  =  0.006)]. Thirteen significant SNP-SNP interactions involving BMP4 and the SNPs at FGFR1, GREM1, NOG and VAX1 and at locus 4p16.2 for increased risk of NSCL  ±  P were identified.

Conclusions: Our results demonstrate an increased risk of NSCL  ±  P in Brazilian individuals with enrichment of African ancestry in the presence of the BMP4 rs2762887 polymorphism, and reveal relevant genetic contribution of SNP-SNP epistatic interactions involving BMP4 variants to NSCL  ±  P risk.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
2.70
自引率
36.40%
发文量
215
期刊介绍: The Cleft Palate-Craniofacial Journal (CPCJ) is the premiere peer-reviewed, interdisciplinary, international journal dedicated to current research on etiology, prevention, diagnosis, and treatment in all areas pertaining to craniofacial anomalies. CPCJ reports on basic science and clinical research aimed at better elucidating the pathogenesis, pathology, and optimal methods of treatment of cleft and craniofacial anomalies. The journal strives to foster communication and cooperation among professionals from all specialties.
期刊最新文献
Three-Dimensional Evaluation of Alveolar Cleft Volume and Nasomaxillary Form in Patients with Unilateral Cleft Lip and Palate. Dermoid Cyst of the Hard Palate: Case Report and Review of the Literature. Long-Term Patient-Reported Outcomes in Internationally Adopted Children with Cleft Lip and Palate. Ultrasound Detection of Fetal Palate Development in the Early Stages of the Second Trimester and Its Clinical Application. Patient Safety and Suitability for Primary Cleft Lip Repair as Day Case Surgery - A Systematic Review and Meta-Analysis.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1