Association between IRF6 gene and non-syndromic cleft lip and palate in Xinjiang Uygur population: a next-generation sequencing analysis

doi:10.3969/j.issn.2095-4344.2015.37.029

Chinese Journal of Tissue Engineering Research ›› 2015, Vol. 19 ›› Issue (37): 6064-6068.doi: 10.3969/j.issn.2095-4344.2015.37.029

Association between IRF6 gene and non-syndromic cleft lip and palate in Xinjiang Uygur population: a next-generation sequencing analysis

Gu Li¹, Bilikezi Yusufu², Ainiwaer Mijiti¹, Adili Moming¹

1Department of Oral and Maxillofacial Surgery, the First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, Xinjiang Uygur Autonomous Region, China; 2Department of Oral and Maxillofacial Surgery, the No.1 People’s Hospital of Kashgar, Kashgar 844000, Xinjiang Uygur Autonomous Region, China

Online:2015-09-10 Published:2015-09-10
Contact: Adili Moming, Master, Professor, Department of Oral and Maxillofacial Surgery, the First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, Xinjiang Uygur Autonomous Region, China
About author:Gu Li, Master, Physician, Department of Oral and Maxillofacial Surgery, the First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, Xinjiang Uygur Autonomous Region, China
Supported by:
the National Natural Science Foundation of China, No. 81260163

Abstract

Abstract:

BACKGROUND: There are few genetic data related to nonsyndromic cleft lip and palate in Xinjiang Uygur population.

OBJECTIVE: To investigate the relationship between interferon regulatory factor 6 (IRF6) and non-syndromic cleft lip and palate in Xinjiang Uygur population.

METHODS: A total of 100 Uyghur patients with non-syndromic cleft lip and palate from Xinjiang were included as case group, and meanwhile, 60 children with upper respiratory infection were enrolled as controls. Next-generation sequencing was used to detect coding region, 5’UTR and 500 bp before exon1 of IRF6 gene, and sequencing results were compared with the information on the genome database.

RESULTS AND CONCLUSION: Eleven high-frequency SNPs were found: rs861019, rs7552506, rs2235377,
rs2235371, rs2013162, rs7545538, rs7545542, rs12403006, rs846808, rs34743335, rs2235373. The frequencies of alleles of loci rs7545538 (C > G, P=0.007), rs7545542 (C > T, P=0.044) and rs2235373 (G > A, P=0.049) were significantly different in the case group and control group; the genotype distribution of rs7545538 showed significant difference between the case group and control group (P=0.037); the genotype distribution and the frequency of alleles of other loci had no significant difference between the case group and control group (P > 0.05). Two blocks were identified in the 11 high-frequency SNPs. There were four common haploid types in Block 1: CCGGT > CCGAT > CACAT > TAGAC, and the most significant single type was CCGAT (P=0.032). There were three common haploid types in Block 2: TAC > ATG > TAG, and the most significant single types were TAC (P=0.009) and TAG (P=0.003). These findings indicate that IRF6 gene polymorphisms are probably associated with the occurrence of non-syndromic cleft lip and palate in Xinjiang Uygur population.

中国组织工程研究杂志出版内容重点：组织构建；骨细胞；软骨细胞；细胞培养；成纤维细胞；血管内皮细胞；骨质疏松；组织工程

Key words: Cleft Palate, Interferon Regulatory Factors, Polymorphism, Single Nucleotide

CLC Number:

R318

Gu Li, Bilikezi Yusufu, Ainiwaer Mijiti, Adili Moming. Association between IRF6 gene and non-syndromic cleft lip and palate in Xinjiang Uygur population: a next-generation sequencing analysis [J]. Chinese Journal of Tissue Engineering Research, 2015, 19(37): 6064-6068.

Figures/Tables 4

References

[1] 于世凤,汪说之.口腔组织病理学[M].5 版,北京:人民卫生出版社, 2003:5-12.

[2] Mangold E,Ludwig KU,Nöthen MM,et al. Breakthroughs in the genetics of orofacial clefting. Trends Mol Med.2011; 17(12): 725-733.

[3] Nikopensius T,Ambrozaityte L,Ludwig KU,et al.Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome8q24 in Estonian and Lithuanian patients. Am J Med Genet A.2009;149A(11):2551-2553.

[4] Rojas-Martinez A,Reutter H,Chacon-Camacho O,et al. Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population: Evidencefor IRF6 and variants at 8q24 and 10q25.Birth Defects Res A Clin Mol Teratol.2010;88(7):535-537.

[5] 徐星培,陈锭珍,王增慧,等.中国8个民族HLA多态性的血清学研究[J].人类学学报, 1993,12(6):158.

[6] 赖淑苹,任惠民,胡海涛.中国西北地区汉,回,维,藏民族HLA-DRB基因多态性研究[J].遗传学报,1999,26(5):447-457.

[7] Sözen MA,Tolarova MM,Spritz RA,et al. The common MTHFR C677T and A1298C variants are not associated with the risk of non-syndromic cleft lip/palate in northern Venezuela.J Genet Genomics.2009;36(5):283-288.

[8] Taniguchi T,Ogasawara K,Takaoka A,et al. IRF family of transcription factors as regulators of host defense. Annu Rev Immunol.2001;19:623-655.

[9] Schorle H1,Meier P,Buchert M,et al.Transcription factor AP-2 essential for cranial closure and craniofacial development. Nature.1996;381(6579): 235-238.

[10] Zhang J,Hagopian-Donaldson S,Serbedzija G,et al. Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2. Nature.1996;381(6579):238-241.

[11] Kondo S,Schutte BC,Richardson RJ,et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet.2002;32(2):285 -289.

[12] Zuechero TM,Cooper ME,Maher BS,et al.Interferon regulatory factor 6(IRF6)gene variants and the risk of isolated cleft lip or palate.N EnsI J Med,2004;351(8):769-780．

[13] Scapoli L,Palmieri A,Martinelli M,et al.Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus in nonsyndromic cleft lip with or without cleft palate,in a Italian population. Am J Hum Genet.2005;76(1):180-183.

[14] Blanton SH,Cortez A,Stal S,et al. Variation in IRF6 conributes to nonsyndromic cleft lip and palate. Am J Med Genet A. 2005; 137A(3):259-262.

[15] Astanand J,Fedik Rahimov,Rolv TL,et al. Genetic Variants in IRF6 and the Risk of Facial Clefts:Single-Marker ans Haplotype-Based Analyses in a Population-Based Case- Control Study of Facial Clefts in Norway.Genet Epidemiol. 2008;32(25):413-424.

[16] HuangY,Wu J,Ma J,et al. Association between IRF6 SNPs and oral clefts in West China.JDentRes.2009;88(8): 715-718.

[17] Lu Y,Liu Q,Xu W,et al.TGFA and IRF6 Contribute to the Risk of Nonsyndromic Cleft Lip with or without Cleft Palate in Northeast China.PLoS One.2013;8(8):e70754.

Association between IRF6 gene and non-syndromic cleft lip and palate in Xinjiang Uygur population: a next-generation sequencing analysis

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