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

• Published in: American journal of medical genetics. Part A Vol. 167A; no. 1; pp. 137 - 141
• Main Authors: Song, Tao, Shi, Jinna, Guo, Qiang, Lv, Kewen, Jiao, Xiaohui, Hu, Tenglong, Sun, Xiangyu, Fu, Songbin
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01-01-2015; Wiley Subscription Services, Inc
• Subjects: 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; SNPs; SPRY2; NOG; Nonsyndromic cleft lip with or without cleft palate (NSCLP)
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.36802

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.