Vathulya Madhubari, Singh Neetu, Naithani Manisha, Dvivedi Sanjay, Jadli Mohit, Chowdhary Nilotpal, Scheller Konstanze, Kessler Peter
Department of Burns and Plastic Surgery, AIIMS Rishikesh, India.
Molecular Biochemistry, King George Medical University, India.
Br J Oral Maxillofac Surg. 2025 Jul;63(6):441-446. doi: 10.1016/j.bjoms.2025.04.003. Epub 2025 Apr 24.
Non-syndromic cleft lip and palate (NSCL/P) is a prevalent congenital anomaly influenced by genetic and environmental factors. The role of the MSX1 gene in NSCL/P has been explored in various populations, with conflicting results. This study investigates the association between MSX1 single nucleotide polymorphisms (SNPs) rs11726039 and rs3821949 and NSCL/P in a sub-Himalayan population of India. A total of 395 subjects, including 216 patients and 179 controls, were genotyped using TaqMan assays. The study also considered environmental factors, such as maternal smoking and folic acid intake. Statistical analysis, including odds ratios (OR), Fisher's exact test, and Hardy-Weinberg equilibrium, was used to assess the association between the SNPs (single nuclear polymorphisms) and NSCL/P. While rs11726039 showed no significant association in either patient or parental samples, rs3821949 indicated a protective effect in fathers (OR = 0.44, p = 0.001) but not in patients. The findings highlight population-specific variations in the genetic aetiology of NSCL/P and the need for larger studies to confirm the role of MSX1 SNPs in the sub-Himalayan region. Despite being located in the same country, differences in genetic associations were noted between the sub-Himalayan and South Indian populations, underscoring the complexity of genetic interactions in NSCL/P.
非综合征性唇腭裂（NSCL/P）是一种受遗传和环境因素影响的常见先天性异常。MSX1基因在NSCL/P中的作用已在不同人群中进行了探索，但结果相互矛盾。本研究调查了印度喜马拉雅山地区人群中MSX1单核苷酸多态性（SNP）rs11726039和rs3821949与NSCL/P之间的关联。使用TaqMan分析对总共395名受试者进行基因分型，其中包括216名患者和179名对照。该研究还考虑了环境因素，如母亲吸烟和叶酸摄入量。采用包括比值比（OR）、Fisher精确检验和哈迪-温伯格平衡在内的统计分析来评估SNP（单核苷酸多态性）与NSCL/P之间的关联。虽然rs11726039在患者样本或亲代样本中均未显示出显著关联，但rs3821949在父亲中显示出保护作用（OR = 0.44，p = 0.001），而在患者中则没有。研究结果突出了NSCL/P遗传病因的人群特异性差异，以及需要开展更大规模研究来证实MSX1 SNP在喜马拉雅山地区的作用。尽管位于同一个国家，但喜马拉雅山地区人群和南印度人群之间在遗传关联方面存在差异，这凸显了NSCL/P中遗传相互作用的复杂性。
