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New insights from GWAS for the cleft palate among han Chinese population

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New insights from GWAS for the cleft palate among han Chinese population

dc.contributor.author	Duan, Shi Jun	es
dc.contributor.author	Huang, Ning	es
dc.contributor.author	Zhang, Bi He	es
dc.contributor.author	Shi, Jia Yu	es
dc.contributor.author	He, Sha	es
dc.contributor.author	Ma, Jian	es
dc.contributor.author	Yu, Qiongqiong	es
dc.contributor.author	Shi, Bing	es
dc.contributor.author	Jia, Zhonglin	es
dc.date.accessioned	2017-07-24T07:14:29Z
dc.date.available	2017-07-24T07:14:29Z
dc.date.issued	2017	es
dc.identifier.citation	Duan, Shi Jun ; Huang, Ning ; Zhang, Bi He ; Shi, Jia Yu ; He, Sha ; Ma, Jian ; Yu, Qiongqiong ; Shi, Bing ; Jia, Zhonglin. New insights from GWAS for the cleft palate among han Chinese population. En: Medicina oral, patología oral y cirugía bucal. Ed. inglesa, 22 2 2017: 12-	es
dc.identifier.uri	http://hdl.handle.net/10550/59825
dc.description.abstract	Genome wide association studies (GWAS) already have identified tens of susceptible loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). However, whether these loci associated with nonsyndromic cleft palate only (NSCPO) remains unknown. In this study, we replicated 38 SNPs (Single nucleotide polymorphisms) which has the most significant p values in published GWASs, genotyping by using SNPscan among 144 NSCPO trios from Western Han Chinese. We performed the transmission disequilibrium test (TDT) on individual SNPs and gene-gene (GxG) interaction analyses on the family data; Parent-of-Origin effects were assessed by separately considering transmissions from heterozygous fathers versus heterozygous mothers to affected offspring. Allelic TDT results showed that T allele at rs742071 (PAX7) (p=0.025, ORtransmission=3.00, 95%CI: 1.09-8.25) and G allele at rs2485893 (10kb 3? of SYT14) were associated with NSCPO (p=0.0036, ORtransmission= 0.60, 95%CI: 0.42-0.85). Genotypic TDT based on 3 pseudo controls further confirmed that rs742071 (p-value=0.03, ORtransmission=3.00, 95%CI: 1.09-8.25) and rs2485893 were associated with NSCPO under additive model (p-value= 0.02, ORtransmission= 0.66, 95%CI: 0.47-0.92). Genotypic TDT for epistatic interactions showed that rs4844913 (37kb 3? of DIEXF) interacted with rs11119388 (SYT14) (p-value=1.80E-08) and rs6072081 (53kb 3? of MAFB) interacted with rs6102085 (33kb 3? of MAFB) (p-value=3.60E-04) for NSCPO, suggesting they may act in the same pathway in the etiology of NSCPO. In this study, we found that rs742071 and rs2485893 were associated NSCPO from Han Chinese population; also, interactions of rs4844913:rs11119388 and rs6072081:rs6102085 for NSCPO were identified, gene-gene interactions have been proposed as a potential source of the remaining heritability, these findings provided new insights of the previous GWAS.	es
dc.title	New insights from GWAS for the cleft palate among han Chinese population	es
dc.type	journal article	es_ES
dc.subject.unesco	UNESCO::CIENCIAS MÉDICAS	es
dc.identifier.doi	10.4317/medoral.21439	es
dc.type.hasVersion	VoR	es_ES