Genetic Association of ULK4 Gene Polymorphism (Rs1052501) With Susceptibility to Cleft Lip and Palate—A Case Control Study in South Indian Population.
Main Article Content
Abstract
Aim:
To investigate the association between ULK4 gene polymorphism (rs1052501) and susceptibility to cleft lip and palate (CLP).
Methods:
A case-control study was conducted with 25 CLP patients and 25 matched controls. Genotyping of rs1052501 was performed using PCR-RFLP. Statistical analysis included chi-square tests and odds ratios.
Results:
AA genotype was more frequent in cases (88%) than controls (68%), but not statistically significant (p=0.085). An allele also showed higher frequency in cases (0.94 vs. 0.84; p=0.123).
Conclusion:
A potential trend was observed between ULK4 polymorphism and CLP, but no significant association was found. Larger studies are needed to validate these findings.
Article Details
References
Geetha-Loganathan P, Buchtova M, Abramyan J. Cellular Mechanisms during Normal and Abnormal Craniofacial Development. Frontiers Media SA; 2022. 319 p.
Carachi R, Doss SHE. Clinical Embryology: An Atlas of Congenital Malformations. Springer; 2019. 482 p.
Anno S. Gene-Environment Interaction Analysis: Methods in Bioinformatics and Computational Biology. CRC Press; 2016. 208 p.
Zhu C, Xu S, Jiang R, Yu Y, Bian J, Zou Z. The gasdermin family: emerging therapeutic targets in diseases. Signal Transduct Target Ther. 2024 Apr 8;9(1):87.
Luo S, Zheng N, Lang B. ULK4 in Neurodevelopmental and Neuropsychiatric Disorders. Front Cell Dev Biol. 2022 Apr 12; 10:873706.
Morris-Rosendahl DJ, Crocq MA. Neurodevelopmental disorders-the history and future of a diagnostic concept. Dialogues Clin Neurosci. 2020 Mar;22(1):65–72.
Moura PP, Zechi-Ceide RM, Richieri-Costa A, Peixoto AP, Tonello C, Garib D. Three-Dimensional Analysis of Rare Facial Clefts and Clinical Facial Appearance. Cambridge Scholars Publishing; 2023. 256 p.
Carinci F, Scapoli L, Palmieri A, Zollino I, Pezzetti F. Human genetic factors in nonsyndromic cleft lip and palate: an update. Int J Pediatr Otorhinolaryngol. 2007 Oct;71(10):1509–19.
Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants. The American Journal of Human Genetics. 2014 Oct 2;95(4):445–53.
Kohli SS, Kohli VS. A comprehensive review of the genetic basis of cleft lip and palate. Journal of Oral and Maxillofacial Pathology. 2012;16(1):64.
Greenberg AJ, Lee AM, Serie DJ, McDonnell SK, Cerhan JR, Liebow M, et al. Single-nucleotide polymorphism rs1052501 associated with monoclonal gammopathy of undetermined significance and multiple myeloma. Leukemia. 2012 Aug 16;27(2):515–6.
Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, et al. Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: A subphenotype analysis using two population-based studies of orofacial clefts in scandinavia. Birth Defects Research Part A: Clinical and Molecular Teratology. 2011 Feb 1;91(2):85–92.
Zano S, Rubab ZE, Baig S, Shahid MA, Ahmad F, Iqbal F. Association of the JAZF1 Variant in Adults With a Parental History of Type 2 Diabetes Mellitus In Pakistan. Cureus [Internet]. 2020 Dec 6 [cited 2025 Mar 7];12(12). Available from: https://www.cureus.com/articles/46249-association-of-the-jazf1-variant-in-adults-with-a-parental-history-of-type-2-diabetes-mellitus-in-pakistan
Imani MM, Sadeghi M, Tadakamadla SK, Brühl A, Sadeghi Bahmani D, Taheri M, et al. Polymorphisms of ATP-Binding Cassette, Sub-Family A, Member 4 (rs560426 and rs481931) and Non-Syndromic Cleft Lip/Palate: A Meta-Analysis. Life. 2021 Jan 15;11(1):58.
Neamatzadeh H, Dastgheib SA, Mazaheri M, Masoudi A, Shiri A, Omidi A, et al. Hardy-Weinberg Equilibrium in Meta-Analysis Studies and Large-Scale Genomic Sequencing Era. Asian Pacific Journal of Cancer Prevention. 2024 Jul 1;25(7):2229–35.
Krocker J, Cotton ME, Schriner JB, Osborn BK, Talanker MM, Wang YWW, et al. Influence of TRPM4 rs8104571 genotype on intracranial pressure and outcomes in African Americans with traumatic brain injury. Scientific Reports. 2023 Apr 10;13(1):1–11.
Kraft P, Zeggini E, Ioannidis JPA. Replication in Genome-Wide Association Studies. ss. 2009 Nov;24(4):561–73.
Meta-analysis and systematic review for the genetic basis of cleft lip and palate. Journal of Oral Biology and Craniofacial Research. 2025 Jan 1;15(1):146–52.
Bookman EB, McAllister K, Gillanders E, Wanke K, Balshaw D, Rutter J, et al. Gene-environment interplay in common complex diseases: forging an integrative model—recommendations from an NIH workshop. Genet Epidemiol. 2011 May;35(4):217–25.
Martelli DRB, Coletta RD, Oliveira EA, Swerts MSO, Rodrigues LAM, Oliveira MC, et al. Association between maternal smoking, gender, and cleft lip and palate. Braz J Otorhinolaryngol. 2015 Jul 22;81(5):514–9.