Journal
MEDICINE
Volume 98, Issue 26, Pages -Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MD.0000000000016170
Keywords
candidate gene; Family-Based Association Test; NSCL/P; single nucleotide polymorphisms
Categories
Funding
- National Natural Science Foundations of China [81273103]
- National Natural Science Foundation of China [81461138036]
- Priority Academic Program Development of Jiangsu Higher Education Institutions (PAPD)
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Objective: Non-syndromic cleft of the lip and/or palate (NSCL/P) is one of the most common polygenic diseases. In this study, both case-control and family-based association study were used to confirm whether the Single Nucleotide Polymorphisms (SNPs) were associated with NSCL/P. Methods: A total of 37 nuclear families and 189 controls were recruited, whose blood DNA was extracted and subjected to genotyping of SNPs of 27 candidate genes by polymerase chain reaction-improved multiple ligase detection reaction technology (PCR-iMLDR). Case-control statistical analysis was performed using the SPSS 19.0. Haplotype Relative Risk (HRR), transmission disequilibrium test (TDT), and Family-Based Association Test (FBAT) were used to test for over-transmission of the target alleles in case-parent trios. The gene-gene interactions on NSCL/P were analyzed by Unphased-3.1.4. Results: In case-control statistical analysis, only C14orf49 chr14_95932477 had statistically significant on genotype model (P=.03) and allele model (P=.03). Seven SNPs had statistically significant on TDT. None of 26 alleles has association with NSCL/P on FBAT. Some SNPs had haplotype-haplotype interactions and genotype-genotype interactions. Conclusion: C14orf49 chr14_95932477 was significantly different between cases and controls on genotype model and allele model by case-control design. Seven SNPs were significantly different on HRR. Four SNPs were significantly different on TDT.
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