Association between BMP4 rs17563 polymorphism and NSCL/P risk: a meta-analysis

Area of Science:

• Genetics
• Developmental Biology
• Public Health

Background:

• Nonsyndromic cleft lip with or without palate (NSCL/P) is a common birth defect with complex etiology.
• Genetic factors, including single nucleotide polymorphisms (SNPs), are implicated in NSCL/P development.
• Bone morphogenetic protein 4 (BMP4) is crucial for craniofacial development, making its genetic variations potential risk factors for NSCL/P.

Purpose of the Study:

• To conduct a meta-analysis investigating the association between the BMP4 rs17563 polymorphism and the risk of NSCL/P.
• To explore potential ethnic differences in the association between BMP4 rs17563 and NSCL/P.

Main Methods:

• A systematic literature search was performed across four online databases to identify relevant case-control studies.
• Statistical analysis using odds ratios (OR) with 95% confidence intervals (CI) was employed to assess the risk association.
• Publication bias, metaregression, and sensitivity analyses were conducted to ensure the robustness of the findings.

Main Results:

• Six case-control studies involving the BMP4 rs17563 polymorphism and NSCL/P were included in the meta-analysis.
• Overall, no statistically significant association was found between the BMP4 rs17563 polymorphism and NSCL/P risk.
• Stratified analysis revealed significant ethnic-specific effects: increased NSCL/P risk in the Chinese population and a protective effect in the Brazilian population.

Conclusions:

• The BMP4 rs17563 polymorphism exhibits differential roles in NSCL/P development, influenced by ethnic background.
• These findings highlight the importance of considering population-specific genetic variations in understanding NSCL/P etiology.
• Further research is warranted to elucidate the mechanisms underlying these ethnic disparities.