Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations

Beaty, Terri H.; Hetmanski, Jacqueline B.; Fallin, M. Daniele; Park, Ji Wan; Sull, Jae Woong; McIntosh, Iain; Liang, Kung Yee; Vanderkolk, Craig A.; Redett, Richard J.; Boyadjiev, Simeon A.; Jabs, Ethylin Wang; Chong, Samuel S.; Cheah, Foong Koon; Wu-Chou, Yah Huei; Chen, P. K.; Chiu, Yen‐Feng; Yeow, Vincent; Ng, Ivy; Cheng, Joanne; Huang, Shangzhi; Ye, X.; Wang, H.; Ingersoll, Roxann; Scott, Alan F.

doi:10.1007/s00439-006-0235-9

Cited by 53 publications

(54 citation statements)

References 38 publications

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“…The SNP rs142167 showed a highly significant association, while the SNP rs9890413 was also shown to be associated with NSCL/P. Beaty et al (2006) also showed the WNT6-WNT10A gene cluster to be associated with incidence of cleft lip and palate.…”

Section: Introductionmentioning

confidence: 86%

Variations in WNT3 gene are associated with incidence of non-syndromic cleft lip with or without cleft palate in a northeast Chinese population

Yp¹,

Wt²,

Q³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect. Several WNT genes are involved in craniofacial embryogenesis, and therefore may play an important role in the etiology of NSCL/P. Two SNPs (rs3809857 and rs9890413) in the WNT3 gene were subjected to case-control and case-parent analysis by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 236 unrelated patients with NSCL/P, including 128 elementary families (185 mothers and 154 fathers), and 400 control individuals from northeast China. The rs3809857 SNP, under the assumption of a dominant model, was found to induce a 2-fold lower risk of NSCL/P OR GG vs GT + TT = 0.605, 95%CI = 0.436-0.839, P = 0.003). Moreover, the family-based association test revealed an under- 12647Variations in WNT3 are associated with orofacial clefts ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (4): 12646-12653 (2015) transmission for the minor allele T. On the other hand, we observed a significant association in the case-control and case-parent analysis of the SNP rs9890413. In addition, the P values for the haplotype of rs3809857-rs9890413 were observed to be statistically significant (P = 0.004). In conclusion, our study confirmed the association between the WNT3 variant and NSCL/P in the population tested.

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Section: Introductionmentioning

confidence: 86%

Variations in WNT3 gene are associated with incidence of non-syndromic cleft lip with or without cleft palate in a northeast Chinese population

Yp¹,

Wt²,

Q³

et al. 2015

Genet. Mol. Res.

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“…Here, the focus is on nonsyndromic CLP which accounts for approximately 70% of all cases with CLP and 50% of cases with isolated cleft palate [14]. Syndromic forms can be subclassified into Mendelian disorders, chromosomal syndromes and uncategorised syndromes [15].…”

mentioning

confidence: 99%

Expressive language skills in Chinese Singaporean preschoolers with nonsyndromic cleft lip and/or palate

Young

Purcell

Ballard

2010

International Journal of Pediatric Otorhinolaryngology

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“…ZNF533 has been identified as a putative repressor of transcription. It is widely expressed in adult brain tissues and is involved in the development of the palate and lip (Beaty et al, 2006). Several studies have shown that deletions of the ZNF533 gene are associated with mental retardation (Kleefstra et al, 2004;Monfort et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population

Liang

Wang

Zou

et al. 2014

J. Zhejiang Univ. Sci. B

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Abstract:Objective: A study in a Caucasian population has identified two single-nucleotide polymorphisms (SNPs) in ZNF533, one in DOCK4, and two in IMMP2L, which were all significantly associated with autism. They are located in AUTS1 and AUTS5, which have been identified as autism susceptibility loci in several genome-wide screens. The present study aimed to investigate whether ZNF533, DOCK4, and IMMP2L genes are also associated with autism in a northeastern Chinese Han population. Methods: We performed a similar association study using families with three individuals (one autistic child and two unaffected parents). A family-based transmission disequilibrium test (TDT) was used to analyze the results. Results: There were significant associations between autism and the two SNPs of ZNF533 gene (rs11885327: χ 2 =4.5200, P=0.0335; rs1964081: χ 2 =4.2610, P=0.0390) and the SNP of DOCK4 gene (rs2217262: χ 2 =5.3430, P=0.0208). Conclusions: Our data suggest that ZNF533 and DOCK4 genes are linked to a predisposition to autism in the northeastern Chinese Han population.

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Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations

Cited by 53 publications

References 38 publications

Variations in WNT3 gene are associated with incidence of non-syndromic cleft lip with or without cleft palate in a northeast Chinese population

Variations in WNT3 gene are associated with incidence of non-syndromic cleft lip with or without cleft palate in a northeast Chinese population

Expressive language skills in Chinese Singaporean preschoolers with nonsyndromic cleft lip and/or palate

Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population

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