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New insights from GWAS for the cleft palate among han Chinese population
Duan, Shi Jun; Huang, Ning; Zhang, Bi He; Shi, Jia Yu; He, Sha; Ma, Jian; Yu, Qiong Qiong; Shi, Bing; Jia, Zhong Lin.
Afiliação
  • Duan, Shi Jun; Sichuan University. West China Hospital of Stomatology. Chengdu. China
  • Huang, Ning; Sichuan University. West China Hospital of Stomatology. Chengdu. China
  • Zhang, Bi He; Sichuan University. China Hospital of Stomatology. Chengdu. China
  • Shi, Jia Yu; University of California. School of Dentistry. Los Angeles. United States
  • He, Sha; Sichuan University. West China Hospital of Stomatology. Chengdu. China
  • Ma, Jian; Sichuan University. West China Hospital of Stomatology. Chengdu. China
  • Yu, Qiong Qiong; Sichuan University. China Hospital of Stomatology. Chengdu. China
  • Shi, Bing; Sichuan University. West China Hospital of Stomatology. Chengdu. China
  • Jia, Zhong Lin; Sichuan University. West China Hospital of Stomatology. Chengdu. China
Med. oral patol. oral cir. bucal (Internet) ; 22(2): e219-e227, mar. 2017. graf, tab, ilus
Artigo em Inglês | IBECS | ID: ibc-161240
Biblioteca responsável: ES1.1
Localização: BNCS
ABSTRACT

BACKGROUND:

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. MATERIAL AND

METHODS:

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.

RESULTS:

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.

CONCLUSIONS:

In this study, we found that rs742071 and rs2485893 were associated NSCPO from Han Chinese population; also, interactions of rs4844913rs11119388 and rs6072081rs6102085 for NSCPO were identified, genegene interactions have been proposed as a potential source of the remaining heritability, these findings provided new insights of the previous GWAS
Assuntos

Texto completo: Disponível Coleções: Bases de dados nacionais / Espanha Base de dados: IBECS Assunto principal: Fenda Labial / Fissura Palatina / Estudo de Associação Genômica Ampla Tipo de estudo: Estudo prognóstico Limite: Humanos País/Região como assunto: Ásia Idioma: Inglês Revista: Med. oral patol. oral cir. bucal (Internet) Ano de publicação: 2017 Tipo de documento: Artigo Instituição/País de afiliação: Sichuan University/China / University of California/United States

Texto completo: Disponível Coleções: Bases de dados nacionais / Espanha Base de dados: IBECS Assunto principal: Fenda Labial / Fissura Palatina / Estudo de Associação Genômica Ampla Tipo de estudo: Estudo prognóstico Limite: Humanos País/Região como assunto: Ásia Idioma: Inglês Revista: Med. oral patol. oral cir. bucal (Internet) Ano de publicação: 2017 Tipo de documento: Artigo Instituição/País de afiliação: Sichuan University/China / University of California/United States
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