Association between NOGGIN and SPRY2 polymorphisms and nonsyndromic cleft lip with or without cleft palate
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 fac...
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Published in: | American journal of medical genetics. Part A Vol. 167A; no. 1; pp. 137 - 141 |
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Abstract | 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. © 2014 Wiley Periodicals, Inc. |
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AbstractList | 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. © 2014 Wiley Periodicals, Inc. 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. copyright 2014 Wiley Periodicals, Inc. 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. |
Author | Fu, Songbin Lv, Kewen Shi, Jinna Hu, Tenglong Sun, Xiangyu Guo, Qiang Song, Tao Jiao, Xiaohui |
Author_xml | – sequence: 1 givenname: Tao surname: Song fullname: Song, Tao organization: Department of Stomatology, The First Affiliated Hospital, Harbin Medical University, Heilongjiang, Harbin, China – sequence: 2 givenname: Jinna surname: Shi fullname: Shi, Jinna organization: Department of Stomatology, The First Affiliated Hospital, Harbin Medical University, Heilongjiang, Harbin, China – sequence: 3 givenname: Qiang surname: Guo fullname: Guo, Qiang email: Correspondence to:Qiang Guo, Scientific Research Management Office, The First Affiliated Hospital of Harbin Medical University, 23 Youzheng Street, Nangang District, Harbin 150001, China., omfs@163.com organization: Scientific Research Management Office, The First Affiliated Hospital, Harbin Medical University, Heilongjiang, Harbin, China – sequence: 4 givenname: Kewen surname: Lv fullname: Lv, Kewen organization: Department of Stomatology, The First Affiliated Hospital, Harbin Medical University, Heilongjiang, Harbin, China – sequence: 5 givenname: Xiaohui surname: Jiao fullname: Jiao, Xiaohui organization: Department of Stomatology, The First Affiliated Hospital, Harbin Medical University, Heilongjiang, Harbin, China – sequence: 6 givenname: Tenglong surname: Hu fullname: Hu, Tenglong organization: Department of Stomatology, The First Affiliated Hospital, Harbin Medical University, Heilongjiang, Harbin, China – sequence: 7 givenname: Xiangyu surname: Sun fullname: Sun, Xiangyu organization: Department of Stomatology, The First Affiliated Hospital, Harbin Medical University, Heilongjiang, Harbin, China – sequence: 8 givenname: Songbin surname: Fu fullname: Fu, Songbin organization: Laboratory of Medical Genetics, Harbin Medical University, Heilongjiang, Harbin, China |
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Cites_doi | 10.1056/NEJMoa032909 10.1038/ng.506 10.1016/j.mod.2007.06.007 10.1016/S0140-6736(09)60695-4 10.1086/510518 10.1038/74155 10.1038/nrg2933 10.1371/journal.pgen.0010064 10.1111/j.1601-0825.2010.01741.x 10.1126/science.1128406 10.1007/s00441-004-0869-7 10.1002/dvdy.21195 10.1242/dev.01676 10.1038/ng740 10.1016/j.ajhg.2009.02.002 10.1038/ng.333 10.1038/35038565 10.1086/344779 10.1242/dev.129.19.4647 10.1016/j.tig.2007.09.002 10.2174/138161206776389868 10.1016/j.ydbio.2010.08.014 10.1016/j.ajhg.2009.10.015 |
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Keywords | SNPs SPRY2 NOG Nonsyndromic cleft lip with or without cleft palate (NSCLP) |
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volume: 374 start-page: 1773 year: 2009 end-page: 1785 article-title: Cleft lip and palate publication-title: Lancet – volume: 17 start-page: 304 year: 2011 end-page: 308 article-title: Replication of two novel susceptibility loci for non‐syndromic orofacial clefts in a Chinese population publication-title: Oral Dis – volume: 124 start-page: 746 year: 2007 end-page: 761 article-title: A dosage‐dependent role for Spry2 in growth and patterning during palate development publication-title: Mech Dev – volume: 313 start-page: 1751 year: 2006 article-title: SUMO1 haploinsufficiency leads to cleft lip and palate publication-title: Science – volume: 29 start-page: 141 year: 2001 end-page: 142 article-title: Mutation of PVRL1 is associated with sporadic, non‐syndromic cleft lip/palate in northern Venezuela publication-title: Nat Genet – volume: 12 start-page: 1431 year: 2006 end-page: 1448 article-title: The relationship between cleft lip, maxillary hypoplasia, hypoxia and phenytoin 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Snippet | 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,... 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,... |
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SubjectTerms | Adolescent Adult Alleles Carrier Proteins - genetics Case-Control Studies Child Child, Preschool Cleft Lip - complications Cleft Lip - genetics Cleft Palate - complications Cleft Palate - genetics Female Genetic Association Studies Genetic Predisposition to Disease Haplotypes Humans Infant Intracellular Signaling Peptides and Proteins - genetics Male Membrane Proteins - genetics NOG Nonsyndromic cleft lip with or without cleft palate (NSCLP) Odds Ratio Polymorphism, Single Nucleotide - genetics SNPs SPRY2 Young Adult |
Title | Association between NOGGIN and SPRY2 polymorphisms and nonsyndromic cleft lip with or without cleft palate |
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