Family based and case-control designs reveal an association of TFAP2A in nonsyndromic cleft lip only among Vietnamese population.
Family based and case-control designs reveal an association of TFAP2A in nonsyndromic cleft lip only among Vietnamese population.
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基于家庭和病例对照的设计显示，TFAP2A仅在越南人群中与非综合征性唇裂有关。
DOI：
10.1002/mgg3.1754
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发表时间：
2021-09
影响因子：
2
通讯作者：
Natsume N
中科院分区：
文献类型：
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作者：
Nguyen DM;Suzuki S;Imura H;Niimi T;Furukawa H;Ta TV;Tong SM;Nguyen TT;Pham LNG;Tran DL;Natsume N
通过全基因组关联和连锁研究揭示了非综合征性唇裂伴或不伴腭裂（NSCL/P）的数十个致病基因及其机制。然而，在不同的人群或方法中，结果并不总是相同的。本研究采用病例对照和基于家庭的方法调查越南人群中非综合征性唇裂/唇裂及其两种亚型：非综合征性唇裂（NSCLO）和非综合征性唇裂和腭裂（NSCLP）的病因。217例nscll /P病例-家长三人组（一名受影响儿童和两名家长），包括105例NSCLO和112例NSCLP参与了基于家庭的设计；采用病例对照设计，招募273名与种族和地区相匹配的健康对照者，他们的家庭中没有唇裂史。采用TaqMan SNP基因分型方法对TFAP2A （rs1675414和rs303048）和8q24 (rs987525) 3个SNP进行分型。TFAP2A rs1675414与NSCLO相关，病例对照和基于家族的测试都证实了这一点。其他snp未发现对nsl /P或两种亚型易感性的证据。目前的研究表明，TFAP2A在越南人群中NSCLO的病因学中起着有趣的作用。本研究采用病例对照和基于家庭的方法调查越南人群中非综合征性唇裂/唇裂及其两种亚型：非综合征性唇裂（NSCLO）和非综合征性唇裂和腭裂（NSCLP）的病因。TFAP2A rs1675414与NSCLO相关，病例对照和基于家族的测试都证实了这一点。
Dozens of causative genes and their mechanisms of nonsyndromic cleft lip with or without cleft palate (NSCL/P) were revealed through genome‐wide association and linkage studies. Results were, however, not always replicated in different populations or methodologies. This study used case–control and family based approaches to investigate the etiology of NSCL/P and its two subtypes: nonsyndromic cleft lip only (NSCLO) and nonsyndromic cleft lip and palate (NSCLP) among the Vietnamese population. Two hundred and seventeen NSCL/P case‐parent trios (one affected child and two parents), including 105 NSCLO and 112 NSCLP were involved for a family based design; and 273 ethnic and region‐matched healthy controls with no cleft history in their families were recruited for a case–control design. Three SNPs consisting of TFAP2A (rs1675414 and rs303048) and 8q24 (rs987525) were genotyped using the TaqMan SNP genotyping assay. TFAP2A rs1675414 was associated with NSCLO, replicated by both case‐control and family based tests. Other SNPs yielded no evidence of susceptibility to NSCL/P or two subtypes. The current investigation suggests an intriguing role of TFAP2A in the etiology of NSCLO among the Vietnamese population. This study used case‐control and family‐based approaches to investigate the etiology of NSCL/P and its two subtypes: nonsyndromic cleft lip only (NSCLO), nonsyndromic cleft lip and palate (NSCLP) among Vietnamese population. TFAP2A rs1675414 was associated with NSCLO, replicated by both case‐control and family‐based tests.
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影响因子：
2
作者：
Jia, Zhonglin;Leslie, Elizabeth J.;Cooper, Margaret E.;Butali, Azeez;Standley, Jennifer;Rigdon, Jennifer;Suzuki, Satoshi;Gongorjav, Ayana;Shonkhuuz, T. Enkhtur;Natsume, Nagato;Shi, Bing;Marazita, Mary L.;Murray, Jeffrey C.
通讯作者：
Murray, Jeffrey C.
影响因子：
3.1
作者：
de Araujo, Tania Kawasaki;Secolin, Rodrigo;Gil-da-Silva-Lopes, Vera Lucia
通讯作者：
Gil-da-Silva-Lopes, Vera Lucia
影响因子：
30.8
作者：
Birnbaum, Stefanie;Ludwig, Kerstin U.;Mangold, Elisabeth
通讯作者：
Mangold, Elisabeth
影响因子：
4.5
作者：
Evangelou E;Trikalinos TA;Salanti G;Ioannidis JP
通讯作者：
Ioannidis JP
影响因子：
30.8
作者：
通讯作者：
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