دورية أكاديمية
MMP16 as NSCL ± P Susceptible Gene in Western Han Chinese.
| العنوان: | MMP16 as NSCL ± P Susceptible Gene in Western Han Chinese. |
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| المؤلفون: | Lin Y; State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases, Department of Cleft Lip and Palate, West China Hospital of Stomatology, Sichuan University, Chengdu, China., Shi J; Division of Growth and Development and Section of Orthodontics, School of Dentistry, University of California, Los Angeles, CA, USA., Shi B; State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases, Department of Cleft Lip and Palate, West China Hospital of Stomatology, Sichuan University, Chengdu, China., Jia Z; State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases, Department of Cleft Lip and Palate, West China Hospital of Stomatology, Sichuan University, Chengdu, China. |
| المصدر: | The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [Cleft Palate Craniofac J] 2023 Dec; Vol. 60 (12), pp. 1625-1631. Date of Electronic Publication: 2022 Sep 18. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: SAGE Publications in Association with American Cleft Palate-Craniofacial Association Country of Publication: United States NLM ID: 9102566 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-1569 (Electronic) Linking ISSN: 10556656 NLM ISO Abbreviation: Cleft Palate Craniofac J Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2018- : [Thousand Oaks, CA] : SAGE Publications in Association with American Cleft Palate-Craniofacial Association Original Publication: Pittsburgh, PA : The Association, [1991- |
| مواضيع طبية MeSH: | Cleft Lip*/complications , Cleft Lip*/ethnology , Cleft Lip*/genetics , Cleft Palate*/complications , Cleft Palate*/ethnology , Cleft Palate*/genetics, Humans ; Asian People/genetics ; Case-Control Studies ; East Asian People/genetics ; Genetic Predisposition to Disease ; Genotype ; Matrix Metalloproteinase 16/genetics ; Polymorphism, Single Nucleotide |
| مستخلص: | Objective: The role of MMP16 in lip development is unclear. This study aimed to identify nonsyndromic cleft lip with or without palate (NSCL ± P) susceptible loci of MMP16 in western Han Chinese. Design: We performed targeted sequencing around MMP16 combined with a 2-phase association analysis on common variants. Phase 2 association analysis was performed with NSCL ± P specific subphenotypes (NSCL and NSCLP). Then we used rare variants burden analysis and genotyping, accompanied by motif analysis. Setting: This study was completed in a tertiary medical center. Patients, Participants: Phase 1 targeted sequencing included 159 patients with NSCL ± P and 542 normal controls; phase 2 included 1626 patients with NSCL ± P (1047 NSCL and 579 NSCLP) and 2255 normal controls. Interventions: Venous blood samples were collected from patients and used to extract DNA. Main Outcome Measures: After Bonferroni correction, phase 1 significant threshold of p -value was 4.28 × 10 -5 (0.05/1167 single nucleotide polymorphisms [SNPs]), and phase 2 was .00025 (0.05/200 SNPs). Burden analysis significant threshold p -value was .05. Results: Common variants phase 1 association analysis identified 11 statistically significant SNPs (lowest p = 1.90 × 10 -9 , odds ratio (OR) = 0.27, 95% CI: 0.17-0.44), phase 2 replication identified 16 SNPs in NSCL ± P (lowest p = 6.26 × 10 -6 , OR = 0.77, 95% CI: 0.69-0.86) and 9 in NSCL (lowest p = 8.44 × 10 -5 , OR = 0.76, 95% CI: 0.66-0.87). Rare variants burden analysis showed no significant results, genotyping results showed they were maternally inherited. Conclusions: Our study identified MMP16 susceptible SNPs in NSCL ± P and NSCL, emphasizing its potential role in lip development. Our study also highlighted the importance to perform association analysis with subphenotypes divided. Competing Interests: Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. |
| فهرسة مساهمة: | Keywords: MMP16; NSCL ± P; association analysis |
| المشرفين على المادة: | EC 3.4.24.- (Matrix Metalloproteinase 16) 0 (MMP16 protein, human) |
| تواريخ الأحداث: | Date Created: 20220919 Date Completed: 20231114 Latest Revision: 20231114 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1177/10556656221125392 |
| PMID: | 36120833 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1545-1569 |
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| DOI: | 10.1177/10556656221125392 |