Replication of two novel susceptibility loci for non‐syndromic orofacial clefts in a Chinese population

Pan, Yuqin; Ma, Jianhua; Zhang, W; Wang, Yong; Zhang, H; Wang, M; Zhang, Z; Wang, Lei

doi:10.1111/j.1601-0825.2010.01741.x

Cited by 24 publications

(24 citation statements)

References 27 publications

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“…In accordance with our study, Mangold et al [2010] have found strong evidence of association with NOG rs227731 in a GWAS of a large number of participants from a European population. In contrast, Pan et al [2011] showed genotypes at NOG rs227731 were not associated with risk of NSCLP in the Southern Chinese population. The reason for the discrepancy between the results of our study and those in Pan et al [2011] is unknown, but it unlikely reflects the sample size, since both studies were of similar sample size (188 cases and 228 controls in the current study vs. 199 cases and 210 controls).…”

Section: Discussionmentioning

confidence: 48%

“…In contrast, Pan et al [2011] showed genotypes at NOG rs227731 were not associated with risk of NSCLP in the Southern Chinese population. The reason for the discrepancy between the results of our study and those in Pan et al [2011] is unknown, but it unlikely reflects the sample size, since both studies were of similar sample size (188 cases and 228 controls in the current study vs. 199 cases and 210 controls). The minor allele frequency for NOG rs227731 in our control was similar to those observed in the Southern Chinese population (0.34 vs. 0.34).…”

Section: Discussionmentioning

confidence: 48%

“…Moreover, the data from Pan et al [2011] failed to confirm the association of NOG rs223371 with risk in development of NSCLP in the Southern Chinese Han population [Jin and Su, 2000]. Thus, this study aimed to examine the association between NOG and SPRY2 SNPs, and NSCLP risk in a Northern Chinese population.…”

Section: Introductionmentioning

confidence: 83%

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Association between NOGGIN and SPRY2 polymorphisms and nonsyndromic cleft lip with or without cleft palate

Song

Shi

Guo

et al. 2014

American J of Med Genetics Pt A

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Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common congenital malformation with a worldwide prevalence rate of 0.4-2.0% among live births, depending on race and ethnic background. Single-nucleotide polymorphisms (SNPs) of genes may contribute to NSCLP risk, although the risk factors and pathogenesis of NSCLP remain unknown. The objective of this study was to investigate association of SNPs of noggin (NOG) and sprouty homolog 2 (SPRY2) with NSCLP risk. A total of 188 NSCLP patients and 228 healthy controls from northern China were recruited for genotyping of these SNPs using the SNaP shot method. The frequency of the NOG rs227731 genotype was significantly lower among NSCLP cases than among controls. Logistic regression analysis showed rs227731 CC genotype was associated with decreased NSCLP susceptibility (OR = 0.31, 95% CI = 0.12-0.80) compared to the AA homozygote. However, no association between SPRY2, SNPs, and NSCLP risk were observed in this cohort of patients. In conclusion, NOG rs227731 genotype was associated with decreased NSCLP risk in a Northern Chinese population.

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Section: Discussionmentioning

confidence: 48%

Section: Discussionmentioning

confidence: 48%

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Association between NOGGIN and SPRY2 polymorphisms and nonsyndromic cleft lip with or without cleft palate

Song

Shi

Guo

et al. 2014

American J of Med Genetics Pt A

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“…SNP rs7078160 is intergenic, located near the VAX1 gene encoding a transcriptional regulator with a DNA-binding homeobox domain. An association between rs7078160 and nsCL/P has been replicated in several studies, which included European and Mesoamerican samples 20,21,37 , but Chinese and Kenyan studies 33,34 have reported contradictory results. A meta-analysis of 7 eligible studies 38 showed only a modest association of rs7078160 with nsCL/P risk.…”

Section: Discussionmentioning

confidence: 82%

“…However, the subsequent replication studies conducted in the Mesoamerican, Italian, Chinese Han and Kenyan populations did not confirm these positive results 21,31,33,34 . The nucleotide variant rs227731 is located 100kb centromeric of the NOG gene.…”

Section: Discussionmentioning

confidence: 88%

Polymorphisms at 1q32, 8q24, and 17q22 loci are associated with nonsyndromic cleft lip with or without cleft palate risk in the Slovak population

Salagovic¹,

Klimčáková²,

Zabavnikova³

et al. 2017

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub

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Background. Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is the most common orofacial birth defect with an aetiology involving both genetic and environmental factors. Genome-wide association studies (GWAS) have identified several genomic susceptibility regions for nsCL/P. In the present study, the three well established single nucleotide polymorphisms (SNPs) identified by GWAS (rs987525 at 8q24, rs7078160 at 10q25, and rs227731 at 17q22 loci) and one SNP identified by candidate gene study (rs642961 in IRF6 gene at 1q32 locus) were analysed for an association with nsCL/P in Slovak population. Methods. Nucleotide variants were genotyped in 165 nsCL/P patients and 326 unaffected controls. All variants of interest were genotyped using high-resolution melting analysis after real-time PCR. Results. We found significant differences between patient and control groups with respect to the allele and genotype frequencies for the SNPs at the 1q32, 8q24, and 17q22 loci. SNP at the 10q25 locus showed a trend toward association with nsCL/P risk. Conclusions.The results suggest that SNPs at the 1q32, 8q24 and 17q22 loci may contribute to the nsCL/P risk in Slovak population.

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Different roles of two novel susceptibility loci for nonsyndromic orofacial clefts in a Chinese Han population.

Pan

Zhang

et al. 2011

American J of Med Genetics Pt A

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Nonsyndromic orofacial clefts (NSOC) are the most common developmental anomalies in human beings. Recently, a large-scale genome-wide association study identified two novel NSOC susceptibility loci: rs13041247 near MAFB and rs560426 near ABCA4. In the present study, we recruited 396 NSOC cases and 384 healthy controls to replicate their associations with risk of NSOC as well as their subgroups in a Chinese Han population. We found the overall genotype and allele frequencies of rs13041247, but not rs560426 were significantly different between cases and controls. Further logistic regression analysis showed rs13041247 CT, CC, and CT/CC were associated with decreased NSOC susceptibility, compared with rs13041247 TT wide-type homozygote. Moreover, the apparent protection against cleft lip with or without cleft palate (CL/P), cleft lip with cleft palate (CLP), and cleft lip only (CLO) was also identified in stratified analysis. However, none of any rs560426 genotypes or alleles was associated with risk of NSOC or their subgroups. Taken together, our findings confirmed the contribution of MAFB in the etiology of NSOC in a Chinese Han population.

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Replication of two novel susceptibility loci for non‐syndromic orofacial clefts in a Chinese population

Abstract: Our findings are consistent with a lack of involvement of the rs7078160 and rs223371 polymorphisms in the development of NSOC in the Chinese Han population.

Cited by 24 publications

References 27 publications

Association between NOGGIN and SPRY2 polymorphisms and nonsyndromic cleft lip with or without cleft palate

Association between NOGGIN and SPRY2 polymorphisms and nonsyndromic cleft lip with or without cleft palate

Polymorphisms at 1q32, 8q24, and 17q22 loci are associated with nonsyndromic cleft lip with or without cleft palate risk in the Slovak population

Different roles of two novel susceptibility loci for nonsyndromic orofacial clefts in a Chinese Han population.

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