Related Experiment Video
Updated: Oct 24, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Associations between the NOGGIN rs227731 polymorphism and NSCL/P risk may be associated with ethnicities: A
Feilong Wang1, Ying Jiang1, Sheng Yang1
1Department of Pediatric Dentistry, the Affiliated Stomatology Hospital, Chongqing Medical University, China.
Background:
The aim of this study was to evaluate the association between the noggin rs227731 polymorphism on chromosome 17q22 and risk of nonsyndromic cleft lip with or without palate (NSCL/P).
Methods:
Three online databases were searched, including Embase, PubMed, and Chinese National Knowledge Infrastructure. The strength of the associations was evaluated by odds ratios (ORs) and 95% confidence intervals (CIs). We also made a subgroup analysis to explore sources of heterogeneity.
Results:
Nine comparisons from seven studies were included in this meta-analysis. We used five genetic models and found that the noggin rs227731 polymorphism may increase NSCL/P risk in Caucasians: C versus A: OR = 1.43, 95% CI, 1.30-1.58; CC versus AA: OR = 2.00, 95% CI, 1.59-2.52; CA versus AA: OR = 1.50, 95% CI, 1.27-1.77; CC+CA versus AA: OR = 1.64, 95% CI, 1.40-1.92; CC versus CA+AA: OR = 1.56, 95% CI, 1.30-1.87. However, for the Chinese population, no significant association between the rs227731 polymorphism and NSCL/P risk was found: C vs. A: OR = 1.04, 95% CI, 0.81-1.33; CC vs. AA: OR = 1.01, 95% CI, 0.52-1.95; CA vs. AA: OR = 1.03, 95% CI, 0.75-1.40; CC+CA vs. AA: OR = 1.04, 95% CI, 0.76-1.43; CC vs. CA+AA: OR = 1.01, 95% CI, 0.56-1.81.
Conclusion:
Our meta-analysis suggested that the rs227731 polymorphism may increase NSCL/P risk in Caucasians and may have no significant association in the Chinese population. Effects of individual and environmental risk factors and of gene-environment interactions may play a different role in Caucasians than in the Chinese population. More relevant case-control studies are required to obtain more precise results. Birth Defects Research 109:445-451, 2017. © 2017 Wiley Periodicals, Inc.
Related Concept Videos
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Single Nucleotide Polymorphisms-SNPs
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Principles of Pharmacogenetics: Types of Genetic Variants
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters