GRHL3、IRF6、NAT2、SDC2、BCL3和PVRL1基因的核苷酸变异与多代家族中非综合征性唇裂伴/不伴腭裂的关联：一项回顾性研究
Association of Nucleotide Variants of GRHL3, IRF6, NAT2, SDC2, BCL3, and PVRL1 Genes with Nonsyndromic Cleft Lip With/Without Cleft Palate in Multigenerational Families: A Retrospective Study.
作者信息
Neela Praveen Kumar, Gosla Srinivas Reddy, Husain Akhter, Mohan Vasavi, Thumoju Sravya, Rajeshwari B V
机构信息
GSR Institute of Craniomaxillofacial and Facial Plastic Surgery, Hyderabad, India.
Department of Orthodontics, Kamineni Institute of Dental Sciences, Nalgonda, Telangana, India.
出版信息
Contemp Clin Dent. 2021 Apr-Jun;12(2):138-142. doi: 10.4103/ccd.ccd_329_20. Epub 2021 Jun 14.
BACKGROUND
Several genes are associated with the etiology of cleft lip and palate (CLP) in different populations. Many nucleotide variants on genes such as GRHL3, IRF6, NAT2, SDC2, BCL3, and PVRL1 were reported in different populations, but not studied in multigenerational cases in the Indian population.
AIM AND OBJECTIVE
The aim of this study is to evaluate whether nucleotide variants rs41268753, rs861020, rs1041983, rs1042381, rs2965169, and rs10790332 are involved in the etiology of nonsyndromic CLP (NSCLP) in multigenerational Indian families.
STUDY DESIGN
Retrospective genetic study.
MATERIALS AND METHODS
Based on inclusion and exclusion criteria, 20 multigenerational families with nonsyndromic cleft lip with or without cleft palate (NSCL/P) were selected. Blood samples from both affected and unaffected participants were collected as a source of genomic DNA. Six nucleotide variants on these genes were genotyped to test for the association with NSCL/P. Genotyping was performed with the MassArray method. Genotype distribution was used to calculate the Hardy-Weinberg equilibrium using PLINK, a whole-genome association analysis toolset. The allelic association was compared among cases and controls using Chi-square test as implemented in PLINK. ≤ 0.05 indicates statistical differences between groups.
RESULTS
No significant associations were found between individual single-nucleotide polymorphisms and NSCL/P. The odds ratio was 1.531, 1.198, 0.8082, 1.418, 1, and 0.5929 for polymorphisms rs41268753, rs861020, rs1041983, rs1042381, rs2965169, and rs10790332, respectively.
CONCLUSION
Our findings suggest that among the multigenerational families in our population, the high-risk nucleotide variants GRHL3 rs41268753, IRF6 rs861020, NAT2 rs1041983, SDC2 rs1042381, BCL3 rs2965169, and PVRL1 rs10790332 are not associated with increased risk of NSCL/P.
背景
在不同人群中，有多个基因与唇腭裂（CLP）的病因相关。在不同人群中已报道了GRHL3、IRF6、NAT2、SDC2、BCL3和PVRL1等基因上的许多核苷酸变异，但在印度人群的多代病例中尚未进行研究。
目的
本研究旨在评估核苷酸变异rs41268753、rs861020、rs1041983、rs1042381、rs2965169和rs10790332是否参与印度多代家庭中非综合征性唇腭裂（NSCLP）的病因。
研究设计
回顾性基因研究。
材料与方法
根据纳入和排除标准，选择20个患有非综合征性唇裂伴或不伴腭裂（NSCL/P）的多代家庭。收集受影响和未受影响参与者的血液样本作为基因组DNA的来源。对这些基因上的六个核苷酸变异进行基因分型，以测试与NSCL/P的关联。采用MassArray方法进行基因分型。使用全基因组关联分析工具集PLINK，通过基因型分布计算哈迪-温伯格平衡。使用PLINK中实现的卡方检验比较病例组和对照组之间的等位基因关联。P≤0.05表示组间存在统计学差异。
结果
未发现单个单核苷酸多态性与NSCL/P之间存在显著关联。多态性rs41268753、rs861020、rs1041983、rs1042381、rs2965169和rs10790332的比值比分别为1.531、1.198、0.8082、1.418、1和0.5929。
结论
我们的研究结果表明，在我们人群的多代家庭中，高风险核苷酸变异GRHL3 rs41268753、IRF6 rs861020、NAT2 rs1041983、SDC2 rs1042381、BCL3 rs2965169和PVRL1 rs10790332与NSCL/P风险增加无关。
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