Neela Praveen Kumar, Reddy Gosla Srinivas, Husain Akhter, Mohan Vasavi, Thumoju Sravya, Bv Rajeshwari
Department of Orthodontics, Kamineni Institute of Dental Sciences, Narketpally, Telangana, India and GSR Institute of Craniomaxillofacial and Facial Plastic Surgery, Hyderabad, Telangana, India.
Department of Craniofacial Surgery, GSR Institute of Craniofacial Surgery, Hyderabad, India.
Glob Med Genet. 2021 Mar;8(1):24-31. doi: 10.1055/s-0041-1723087. Epub 2021 Feb 19.
Cleft lip palate (CLP) is a common congenital anomaly with multifactorial etiology. Many polymorphisms at different loci on multiple chromosomes were reported to be involved in its etiology. Genetic research on a single multigenerational American family reported 18q21.1 locus as a high-risk locus for nonsyndromic CLP (NSCLP). However, its association in multiple multiplex families and Indian population is not analyzed for its association in NSCLP. This study was aimed to evaluate whether high-risk single nucleotide polymorphisms (SNPs) on chromosome 18q21.1 are involved in the etiology of NSCLP in multiplex Indian families. Twenty multigenerational families affected by NSCLP were selected for the study after following inclusion and exclusion criteria. Genomic DNA was isolated from the affected and unaffected members of these 20 multiplex families and sent for genetic analysis. High-risk polymorphisms, such as rs6507872 and rs8091995 of , rs17715416, rs17713847 and rs183559995 of , rs78950893 of , rs1450425 of , and rs6507992 of candidate genes on the 18q21.1 locus, were analyzed. SNP genotyping was done using the MassARRAY method. Statistical analysis of the genomic data was done by PLINK. Polymorphisms followed the Hardy-Weinberg equilibrium. In the allelic association, all the polymorphisms had a -value more than 0.05. The odds ratio was not more than 1.6 for all the SNPs. High-risk polymorphisms, such as rs6507872 and rs8091995 of , rs17715416, rs17713847 and rs183559995 of , rs78950893 of , rs1450425 of , and rs6507992 of in the locus 18q21.1, are not associated with NSCLP in Indian multiplex families.
唇腭裂（CLP）是一种常见的先天性畸形，病因具有多因素性。据报道，多条染色体上不同位点的许多多态性与该病的病因有关。一项针对一个美国多代家族的基因研究报告称，18q21.1位点是非综合征性唇腭裂（NSCLP）的一个高风险位点。然而，尚未对其在多个多重家庭和印度人群中的关联进行NSCLP方面的分析。 本研究旨在评估18q21.1染色体上的高风险单核苷酸多态性（SNP）是否与印度多重家庭中NSCLP的病因有关。 在遵循纳入和排除标准后，选择了20个受NSCLP影响的多代家族进行研究。从这20个多重家庭的患病和未患病成员中分离出基因组DNA，并送去进行基因分析。对18q21.1位点上候选基因的高风险多态性进行了分析，如 的rs6507872和rs8091995、 的rs17715416、rs17713847和rs183559995、 的rs78950893、 的rs1450425以及 的rs6507992。使用MassARRAY方法进行SNP基因分型。通过PLINK对基因组数据进行统计分析。 多态性符合哈迪-温伯格平衡。在等位基因关联中，所有多态性的P值均大于0.05。所有SNP的优势比均不超过1.6。 18q21.1位点上的高风险多态性，如 的rs6507872和rs8091995、 的rs17715416、rs17713847和rs183559995、 的rs78950893、 的rs1450425以及 的rs6507992，与印度多重家庭中的NSCLP无关。
