title: Validation of a genome-wide association study implied that SHTIN1 may involve in the pathogenesis of NSCL/P in Chinese population.
abstract: Orofacial clefts are among the most common birth defects in humans worldwide. A large-scale, genome-wide association study (GWAS) in the Chinese population recently identified several genetic risk variants for nonsyndromic cleft lip with or without cleft palate (NSCL/P). We selected 16 significant SNPs from the GWAS I stage (P < 1.00E-5) that had not been replicated to validate their association with NSCL/P in 1931 NSCL/P cases and 2258 controls. Ultimately, we identified a NSCL/P susceptibility loci (rs17095681 at 10q25.3, intron of SHTN1 and 27.2 kb downstream of VAX1, Pmeta= 3.80E-9, OR = 0.64) in Chinese Han and Hui populations. This locus was not high LD with the reported loci in 10q25.3. It was a newly identified independent locus in 10q25.3 associated with NSCL/P. These results imply that SHTIN1 may involve in the pathogenesis of NSCL/P advance our understanding of the genetic susceptibility to NSCL/P.
authors.affiliation: Department of Biomedical Engineering, Medical Systems Biology Research Center, Tsinghua University School of Medicine, Beijing 100084, China.|CapitalBio Corporation, Beijing 102206, China.|National Engineering Research Center for Beijing Biochip Technology, Beijing 102206, China.
authors.forename: Yirui
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Biomedical Engineering, Medical Systems Biology Research Center, Tsinghua University School of Medicine, Beijing 100084, China.|CapitalBio Corporation, Beijing 102206, China.|National Engineering Research Center for Beijing Biochip Technology, Beijing 102206, China.|The State Key Laboratory Breeding Base-Shenzhen Key Laboratory of Chemical Biology, The Graduate School at Shenzhen, Tsinghua University, Shenzhen 518055, China.
authors.forename: Yimin
authors.initials: Y
authors.lastname: Sun
authors.affiliation: Department of Oral and Maxillofacial Surgery, Affiliated Stomatological Hospital, Ningxia Medical University, Yinchuan 750004, China.|General Hospital of Ningxia Medical University, Yinchuan 750004, China.|National Engineering Research Center for Beijing Biochip Technology, Sub-center in Ningxia, Yinchuan 750004, China.
authors.forename: Yongqing
authors.initials: Y
authors.lastname: Huang
authors.affiliation: Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University, Nanjing 210029, China.
authors.forename: Yongchu
authors.initials: Y
authors.lastname: Pan
authors.affiliation: Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou 511442, China.|Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou 511442, China.|Biobank of Guangdong Women and Children Hospital, Guangzhou 511442, China.
authors.forename: Aihua
authors.initials: A
authors.lastname: Yin
authors.affiliation: The State Key Laboratory of Oral Diseases, Sichuan University, Chengdu 610041, China.|West China College of Stomatology, Sichuan University, Chengdu 610041, China.
authors.forename: Bing
authors.initials: B
authors.lastname: Shi
authors.affiliation: Department of Oral and Maxillofacial Surgery, Affiliated Stomatological Hospital, Ningxia Medical University, Yinchuan 750004, China.|General Hospital of Ningxia Medical University, Yinchuan 750004, China.
authors.forename: Xuefei
authors.initials: X
authors.lastname: Du
authors.affiliation: Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University, Nanjing 210029, China.
authors.forename: Lan
authors.initials: L
authors.lastname: Ma
authors.affiliation: Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou 511442, China.|Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou 511442, China.|Biobank of Guangdong Women and Children Hospital, Guangzhou 511442, China.
authors.forename: Feifei
authors.initials: F
authors.lastname: Lan
authors.affiliation: General Hospital of Ningxia Medical University, Yinchuan 750004, China.|National Engineering Research Center for Beijing Biochip Technology, Sub-center in Ningxia, Yinchuan 750004, China.
authors.forename: Min
authors.initials: M
authors.lastname: Jiang
authors.affiliation: Division of Growth and Development and Section of Orthodontics, School of Dentistry, University of California, Los Angeles, Los Angeles, CA 90095, USA.
authors.forename: Jiayu
authors.initials: J
authors.lastname: Shi
authors.affiliation: CapitalBio Corporation, Beijing 102206, China.|National Engineering Research Center for Beijing Biochip Technology, Beijing 102206, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Zhang
authors.affiliation: CapitalBio Corporation, Beijing 102206, China.|National Engineering Research Center for Beijing Biochip Technology, Beijing 102206, China.
authors.forename: Xue
authors.initials: X
authors.lastname: Xiao
authors.affiliation: Department of Oral and Maxillofacial Surgery, Affiliated Stomatological Hospital, Ningxia Medical University, Yinchuan 750004, China.|General Hospital of Ningxia Medical University, Yinchuan 750004, China.
authors.forename: Zhongwei
authors.initials: Z
authors.lastname: Zhou
authors.affiliation: Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University, Nanjing 210029, China.
authors.forename: Hongbing
authors.initials: H
authors.lastname: Jiang
authors.affiliation: Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University, Nanjing 210029, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Wang
authors.affiliation: Department of Oral and Maxillofacial Surgery, Affiliated Stomatological Hospital, Ningxia Medical University, Yinchuan 750004, China.|General Hospital of Ningxia Medical University, Yinchuan 750004, China.
authors.forename: Yinxue
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of Biomedical Engineering, Medical Systems Biology Research Center, Tsinghua University School of Medicine, Beijing 100084, China.|CapitalBio Corporation, Beijing 102206, China.|National Engineering Research Center for Beijing Biochip Technology, Beijing 102206, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Cheng
mesh_terms: D044466:Asian People; D002681:China / Q000453:epidemiology; D002971:Cleft Lip / Q000453:epidemiology / Q000235:genetics*; D002972:Cleft Palate / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D056426:Genetic Loci; D055106:Genome-Wide Association Study; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; D014157:Transcription Factors; C572055:VAX1 protein, human