期刊
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
卷 18, 期 21, 页码 -出版社
MDPI
DOI: 10.3390/ijerph182111483
关键词
congenital condition; cleft lip; cleft palate; genetic variation; single nucleotide polymorphism; ABCA4
资金
- National Science Centre [2169/B/P01/2011/40]
This study found that two SNPs in the ABCA4 gene, rs4147811 and rs560426, are associated with the risk of NSCL/P in the Polish population. The AG genotype of rs4147811 was linked to a decreased risk, while the GG genotype of rs560426 was associated with an increased risk. However, the study had limitations including a small sample size and limited power in detecting complex inheritance patterns.
Background: Non-syndromic cleft lip with/without cleft palate (NSCL/P) is a common congenital condition with a complex aetiology reflecting multiple genetic and environmental factors. Single nucleotide polymorphisms (SNPs) in ABCA4 have been associated with NSCL/P in several studies, although there are some inconsistent results. This study aimed to evaluate whether two SNPs in ABCA4, namely rs4147811 and rs560426, are associated with NSCL/P occurrence in the Polish population. Methods: The study included 627 participants: 209 paediatric patients with NSCL/P and 418 healthy newborn controls. DNA was isolated from the saliva of NSCL/P patients and from umbilical cord blood in the controls. Genotyping of rs4147811 and rs560426 was performed using quantitative PCR. Results: The rs4147811 (AG genotype) SNP in ABCA4 was associated with a decreased risk of NSCL/P (odds ratio (OR) 0.57; 95% confidence interval (CI) 0.39-0.84; p = 0.004), whereas the rs560426 (GG genotype) SNP was associated with an increased risk of NSCL/P (OR 2.13; 95% CI 1.31-3.48; p = 0.002). Limitations: This study-based on the correlation between single genetic variants and the occurrence of different phenotypes-might have limited power in detecting relevant, complex inheritance patterns. ORs are often low to moderate when investigating the association of single genes with the risk of a complex trait. Another limitation was the small number of available NSCL/P samples. Conclusions: The results suggest that genetic variations in ABCA4 are important risk markers of NSCL/P in the Polish population. Further investigation in a larger study group is warranted.
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