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Polymorphic variants in VAX1 and the risk of nonsyndromic cleft lip with or without cleft palate in a population from northern China.

Abstract Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common craniofacial birth defects, and the etiology of NSCL/P involves both genetic and environmental factors. Genome-wide association study (GWAS) identified a novel susceptibility locus of ventral anterior homeobox 1 (VAX1) in patients with NSCL/P. However, the association of single nucleotide polymorphisms (SNPs) of VAX1 with NSCL/P is inconclusive due to the differences in the racial and ethnic populations. The aim of this study was to replicate the association between VAX1 and NSCL/P in a northern Chinese Han population.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title medicine
Publication Year Start




PMID- 28383424
OWN - NLM
STAT- MEDLINE
DA  - 20170406
DCOM- 20170501
LR  - 20170503
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 96
IP  - 14
DP  - 2017 Apr
TI  - Polymorphic variants in VAX1 and the risk of nonsyndromic cleft lip with or
      without cleft palate in a population from northern China.
PG  - e6550
LID - 10.1097/MD.0000000000006550 [doi]
AB  - BACKGROUND: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one
      of the most common craniofacial birth defects, and the etiology of NSCL/P
      involves both genetic and environmental factors. Genome-wide association study
      (GWAS) identified a novel susceptibility locus of ventral anterior homeobox 1
      (VAX1) in patients with NSCL/P. However, the association of single nucleotide
      polymorphisms (SNPs) of VAX1 with NSCL/P is inconclusive due to the differences
      in the racial and ethnic populations. The aim of this study was to replicate the 
      association between VAX1 and NSCL/P in a northern Chinese Han population.
      METHODS: Our study included 186 patients with NSCL/P and 223 healthy individuals 
      from northern China. Five SNPs (rs4752028, rs10787760, rs7078160, rs6585429, and 
      rs1871345) on VAX1 were genotyped using the SNaPshot method. RESULTS: Recessive
      genetic model analysis revealed that homozygous genotype CC of VAX1 rs4752028 was
      associated with an increased risk of NSCL/P (odds ratio = 1.89, 95% confidence
      interval = 1.12-3.19, P = 0.017), but the results were not significant after the 
      Bonferroni correction for multiple comparisons. The allele and genotype
      frequencies of rs10787760, rs7078160, rs6585429, and rs1871345 and the allele
      frequencies of rs4752028 showed no significant differences between cases and
      controls. Haplotype and SNP-SNP interaction analyses did not detect any
      significant association of VAX1 with the occurrence of NSCL/P. CONCLUSION: VAX1
      rs4752028 was weakly associated with NSCL/P development in the studied northern
      Chinese Han population.
FAU - Li, Dongmei
AU  - Li D
AD  - aDepartment of Stomatology bScientific Research Management Office, The First
      Affiliated Hospital, Harbin Medical University, Harbin, China.
FAU - Liu, Tingting
AU  - Liu T
FAU - Meng, Xiangbiao
AU  - Meng X
FAU - Guo, Qiang
AU  - Guo Q
FAU - Shi, Jinna
AU  - Shi J
FAU - Hao, Yanru
AU  - Hao Y
FAU - Jiao, Xiaohui
AU  - Jiao X
FAU - Lv, Kewen
AU  - Lv K
FAU - Song, Tao
AU  - Song T
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - 0 (Homeodomain Proteins)
RN  - 0 (Transcription Factors)
RN  - 0 (VAX1 protein, human)
RN  - Orofacial Cleft 1
SB  - AIM
SB  - IM
MH  - Asian Continental Ancestry Group/genetics
MH  - Brain/*abnormalities
MH  - Case-Control Studies
MH  - China
MH  - Cleft Lip/*genetics
MH  - Cleft Palate/*genetics
MH  - Female
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - Male
MH  - Polymorphism, Single Nucleotide
MH  - Transcription Factors/*genetics
PMC - PMC5411208
EDAT- 2017/04/07 06:00
MHDA- 2017/05/02 06:00
CRDT- 2017/04/07 06:00
AID - 10.1097/MD.0000000000006550 [doi]
AID - 00005792-201704070-00031 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2017 Apr;96(14):e6550. doi: 10.1097/MD.0000000000006550.

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