Dataset Information

Targeted sequencing reveals KLF4 gene associated with NSCL/P in Western Han Chinese.

ABSTRACT: OBJECTIVE:Non-syndromic cleft lip with or without palate (NSCL/P) is one of the most common congenital birth defects affected by both gene and environmental modifiers. Recent studies revealed that KLF4 played an important role during craniofacial development. This study aimed to evaluate the association between KLF4 gene variations and NSCL/P in a Western Han Chinese population. METHODS:In this study, 159 unrelated cases with NSCL/P were recruited. We used targeted region sequencing around KLF4 gene, and single variation association analysis and gene-based burden analysis were then performed. RESULTS:116 SNPs and 30 indels were found. Burden analysis showed no statistical significance. Association analysis results showed rs6477574 (P = 0.014 and OR = 1.58), rs112488950 (P = 0.0024 and OR = 1.98) and rs111357138 (P = 0.0025 and OR = 1.96) were associated with NSCL/P. CONCLUSIONS:The results revealed that KLF4 variations were associated with NSCL/P in a Western Han Chinese population, providing a new reference for future genetic study of NSCL/P.

SUBMITTER: Lin Y

PROVIDER: S-EPMC6949737 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Targeted sequencing reveals <i>KLF4</i> gene associated with NSCL/P in Western Han Chinese.

Lin Yansong Y Shi Jiayu J Shi Bing B Jia Zhonglin Z

International journal of clinical and experimental pathology 20191001 10

<h4>Objective</h4>Non-syndromic cleft lip with or without palate (NSCL/P) is one of the most common congenital birth defects affected by both gene and environmental modifiers. Recent studies revealed that <i>KLF4</i> played an important role during craniofacial development. This study aimed to evaluate the association between <i>KLF4</i> gene variations and NSCL/P in a Western Han Chinese population.<h4>Methods</h4>In this study, 159 unrelated cases with NSCL/P were recruited. We used targeted r ...[more]

PMID: 31933779

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Project description:Obstructive sleep apnoea (OSA) is a prevalent sleep disorder considered as an independent risk factor for cardiovascular consequences. It has a strong genetic background and is associated with hypoadiponectinaemia.Target sequencing of whole ADIPONQ gene was performed in 340 participants including 247 patients with OSA and 93 non-OSA participants. Polysomnography was used to diagnose OSA. The associations between variants and OSA were determined by multivariate regression analysis.Thirteen single nucleotide polymorphisms of ADIPOQ were identified in all subjects. Genotype frequencies at rs4686803 (P = .034), rs3774262 (P = .034), and rs2082940 (P = .045) were significantly different between OSA and non-OSA groups. Individuals carrying the CT/TT genotypes of rs4686803, GA/AA genotypes of rs3774262, and CT/TT genotypes of rs1063537 were associated with 2.295-, 2.295- and 2.155-fold increased risk of OSA respectively in dominant model, after adjusting for confounding effects. The subjects with the rs2082940 CC genotype were associated with decreased risk of OSA (OR: 0.455) in recessive model. Additionally, the apnoea-hypopnea index (AHI) was significantly increased in rs3774262 (GA/AA) (P = .001), rs4686803 (CT/TT) (P = .001), and rs1063537 (CT/TT) (P = .004) genotype individuals than those with rs3774262 (GG), rs4686803 (CC), and rs1063537 (CC) genotypes, respectively. The AHI was significantly decreased in individuals with ADIPOQ rs2082940 CC genotypes than in those with the CT and TT genotype (P = .007). Moreover, the stratified analysis found that the genotype of rs3774262 (GA/AA), rs4686803 (CT/TT), and rs1063537 (CT/TT) variants were associated with increased risk of OSA by 2.935-, 2.935- and 2.786-fold in overweight participants. The genotype of rs2082940 CC variants was associated with decreased risk of OSA (OR: 0.373) in overweight participants compared with rs2082940 CT/ TT genotypes.ADIPOQ variants rs3774262, rs4686803, rs1063537, and rs2082940 were associated with the prevalence of OSA in Chinese Han individuals.

Dataset Information

Targeted sequencing reveals KLF4 gene associated with NSCL/P in Western Han Chinese.

Publications

Targeted sequencing reveals <i>KLF4</i> gene associated with NSCL/P in Western Han Chinese.

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