SUMO1 polymorphisms are associated with non-syndromic cleft lip with or without cleft palate

Song, Tao; Li, Guolin; Jing, Guangping; Jiao, Xiaohui; Shi, Jinna; Zhang, Bing; Wang, Li; Ye, Xiangmei; Cao, Fenglin

doi:10.1016/j.bbrc.2008.10.138

Cited by 39 publications

(33 citation statements)

References 26 publications

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“…T/T homozygotes and T/C heterozygotes at rs7589433 may decrease the risk of being a NSCL/P case. These results were consistent with the findings that C/T and C/T þ T/T were protective factors (Song et al, 2008).…”

Section: Discussionsupporting

confidence: 94%

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Association Between Polymorphisms at Small Ubiquitin-Like Modifier 1 and Nonsyndromic Orofacial Clefts in Western China

Jia

Yang²,

Meng³

et al. 2010

DNA and Cell Biology

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Small ubiquitin-like modifier 1 (SUMO1) has been shown to be associated with cleft lip and palate in animal models. However, rarely studies have linked SUMO1 to nonsyndromic cleft lip with or without cleft palate in humans. The purpose of this study was to confirm the contribution of SUMO1 to nonsyndromic orofacial clefts in western Han Chinese. Four single-nucleotide polymorphisms were investigated in 246 case trios in western China using conditional logistic regression, transmission disequilibrium test, and case-parent trio design. Strong evidence of linkage disequilibrium was found between these markers and the disease in both single-nucleotide polymorphism analysis (G allele at rs6761131 [p=0.0008, odds ratio (OR) = 1.92, 95% confidence interval (CI): 1.31-2.81], C allele at rs7580433 [p<0.0001, OR=2.79, 95% CI: 1.93-4.03], and G allele at rs10185956 [p=0.0069, OR=1.61, 95% CI: 1.14-2.27]) and haplotype analysis (A-C for rs6709162-rs7580433 [p=0.00024], C-G for rs7580433-rs10185956 [p=0.00091], and A-C-A for rs6709162-rs7580433-rs10185956 [p=0.004], among others). The risk factors identified in this study may provide a better understanding of the etiological role of SUMO1 in nonsyndromic cleft lip with or without cleft palate incidence.

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Section: Discussionsupporting

confidence: 94%

“…The SUMO1 gene disrupted by balanced translocation may lead to cleft lip and palate (Alkuraya et al, 2006). Moreover, case-control and family-based association study identified linkage disequilibrium (LD) between polymorphism alleles at the SUMO1 locus and NSCL/P (Song et al, 2008;Carter et al, 2010).…”

Section: Introductionmentioning

confidence: 99%

Association Between Polymorphisms at Small Ubiquitin-Like Modifier 1 and Nonsyndromic Orofacial Clefts in Western China

Jia

Yang²,

Meng³

et al. 2010

DNA and Cell Biology

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“…Although association between a SUMO1 haplotype and NSCL/P was reported in a Han Chinese population [14], no association with NSCL/P was found in an Irish sample [13]. However, the Irish study did report an association between NSCPO and a SNP in intron 2 of SUMO1 [13].…”

Section: Discussionmentioning

confidence: 96%

“…Studies investigating associations between SUMO1 variants and the risk of orofacial clefting in humans have yielded no conclusive results [13,14]. Although association between a SUMO1 haplotype and NSCL/P was reported in a Han Chinese population [14], no association with NSCL/P was found in an Irish sample [13].…”

Section: Discussionmentioning

confidence: 97%

“…These data suggest that the 17 SNPs selected for this investigation provided good gene coverage. Of the four SNPs that were tested in the Chinese NSCL/P sample [14], we genotyped rs7580433. For the three remaining SNPs (rs6761131, rs6717252, and rs4675272), we genotyped SNPs that are in almost perfect linkage disequilibrium in the CEU sample (rs1474267, rs10174937, and rs6717044).…”

Section: Association Analysismentioning

confidence: 99%

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SUMO1 as a candidate gene for non-syndromic cleft lip with or without cleft palate: No evidence for the involvement of common or rare variants in Central European patients

Assis

Nowak

Ludwig

et al. 2011

International Journal of Pediatric Otorhinolaryngology

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Associated anomalies among infants with oral clefts at birth and during a 1‐year follow‐up

Rittler¹,

Cosentino

López-Camelo

et al. 2011

American J of Med Genetics Pt A

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Reports of birth defects rates may focus on defects observed in the newborn period or include defects diagnosed at older ages. However, little information is available on the rates of additional anomalies detected after birth or on the ages at which such anomalies are diagnosed. The aims of this work were to describe the initial diagnoses of oral clefts, isolated or associated with other defects, in newborn infants ascertained in hospitals of the ECLAMC network, and diagnostic changes that occurred due to detection of additional defects during a one-year follow-up period. Seven hundred ten liveborn infants with cleft lip only (CLO), cleft lip with cleft palate (CLP), or cleft palate (CP) were ascertained between 2003 and 2005. Prevalence estimates of isolated and associated clefts, diagnoses in infants with associated clefts, and the percentage of isolated clefts that were reclassified as associated were established. Birth prevalence estimates (per 1,000) were as follows: Total: 1.7; CLP: 0.94 (ASO=23.5%); CP: 0.46 (ASO=42.3%); CLO: 0.28 (ASO=7.6%). Initial diagnoses in infants with associated clefts included 38 infants with chromosomal abnormalities, 33 with non-chromosomal syndromes, 16 with malformation sequences, and 98 with multiple anomalies of unknown etiology. Seven percent of newborns initially classified as isolated were later reclassified as associated. Ten infants without associated defects or clinically suspected syndromes were diagnosed as syndromic only through laboratory findings or family history, illustrating the difference between the terms associated vs. isolated, which refers to presence or absence of associated anomalies, and syndromic vs. non-syndromic, which refers to etiology.

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SUMO1 polymorphisms are associated with non-syndromic cleft lip with or without cleft palate

Cited by 39 publications

References 26 publications

Association Between Polymorphisms at Small Ubiquitin-Like Modifier 1 and Nonsyndromic Orofacial Clefts in Western China

Association Between Polymorphisms at Small Ubiquitin-Like Modifier 1 and Nonsyndromic Orofacial Clefts in Western China

SUMO1 as a candidate gene for non-syndromic cleft lip with or without cleft palate: No evidence for the involvement of common or rare variants in Central European patients

Associated anomalies among infants with oral clefts at birth and during a 1‐year follow‐up

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