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Found 1 result for [2018]121/Medical Science and Technology Project of Shantou/International[Grants and Funding]
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Meta-Analysis
. 2020 Feb 4;20(1):39.
doi: 10.1186/s12903-020-1003-2.

Association between 20q12 rs13041247 polymorphism and risk of nonsyndromic cleft lip with or without cleft palate: a meta-analysis

Liheng Huang  1 , Xinglong Liang  2 , Yangzhan Ou  3 , Shijie Tang  4 , Yunpu He  5
Affiliations
Meta-Analysis

Association between 20q12 rs13041247 polymorphism and risk of nonsyndromic cleft lip with or without cleft palate: a meta-analysis

Liheng Huang et al. BMC Oral Health. .

Abstract

Background: Previous genome-wide association studies have identified a link between the rs13041247 single nucleotide polymorphisms (SNPs) in the chromosome 20q12 locus and the development of the congenital malformation known as nonsyndromic cleft lip with or without cleft palate (NSCL/P). The present meta-analysis was therefore designed to formally assess the relationship between rs13041247 and NSCL/P.

Methods: We searched Embase, Web of Science, PubMed, the China National Knowledge Internet (CNKI), and the China Wanfang database in order to identify relevant published through 25 June 2019. This allowed us to identify 13 studies incorporating 4914 patients and 5981 controls for whom rs13041247 genotyping had been conducted, with STATA 12.0 then being used to conduct a meta-analysis of these pooled results. The I2 statistic was used to compare heterogeneity among studies.

Results: In total this analysis incorporated 13 case-control studies. No association between the rs13041247 polymorphism and NSCL/P risk was detected in individuals of Asian ethnicity (C vs T: OR = 0.847, 95% CI = 0.702-1.021; CC vs TT: OR = 0.725, 95% CI = 0.494-1.063; CC vs CT: OR = 0.837, 95% CI = 0.657-1.067; CT + TT vs CC: OR = 1.265, 95% CI = 0.951-1.684; CC + CT vs TT: OR = 0.805, 95% CI = 0.630-1.029) or Caucasian ethnicity (C vs T: OR = 0.936, 95% CI = 0.786-1.114; CC vs TT: OR = 0.988, 95% CI = 0.674-1.446; CC vs CT: OR = 1.197, 95% CI = 0.816-1.757; CT + TT vs CC: OR = 0.918, 95% CI = 0.639-1.318; CC + CT vs TT: OR = 0.855, 95% CI = 0.677-1.081). However, an overall analysis of all participants in these studies revealed the rs13041247 C allele, the CT genotype, and the CC + CT model to be linked to a reduced NSCL/P risk (C vs T: OR = 0.897, 95% CI: 0.723-1.114, P = 0.048; CT vs TT: OR = 0.839, 95% CI: 0.734-0.959, P = 0.01; CC + CT vs TT: OR = 0.824, 95% CI: 0.701-0.968, P = 0.019).

Conclusion: These results suggest that the rs13041247 SNP located at the 20q12 chromosomal locus is associated with NSCL/P risk in an overall pooled study population, although this association was not significant in East Asian or Caucasian populations.

Keywords: 20q12; MAFB; Meta-analysis; Nonsyndromic cleft lip with or without cleft palate; rs13041247.

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Conflict of interest statement

All the authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1
Flow diagram of study selection process
Fig. 2
Fig. 2
Forest plot of the association between rs13041247 and NSCL/P risk in East Asian ethnicity
Fig. 3
Fig. 3
Forest plot of the association between rs13041247 and NSCL/P risk in Caucasian ethnicity
Fig. 4
Fig. 4
Forest plot of the association between rs13041247 and NSCL/P risk in Overall population
Fig. 5
Fig. 5
Funnel plot of the association between rs13041247 and NSCL/P risk in East Asian ethnicity
Fig. 6
Fig. 6
Funnel plot of the association between rs13041247 and NSCL/P risk in Overall population
See this image and copyright information in PMC

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