Advances in Clinical and Experimental Medicine

Title abbreviation: Adv Clin Exp Med
JCR Impact Factor (IF) – 1.736
5-Year Impact Factor – 2.135
Index Copernicus  – 168.52
MEiN – 70 pts

ISSN 1899–5276 (print)
ISSN 2451-2680 (online)
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Advances in Clinical and Experimental Medicine

2018, vol. 27, nr 8, August, p. 1109–1116

doi: 10.17219/acem/74388

Publication type: original article

Language: English

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Family-based study of association between MAFB gene polymorphisms and NSCL/P among Western Han Chinese population

Bihe Zhang1,B,D, Shijun Duan1,A,B,C,D,E,F, Jiayu Shi2,B,C, Shuyuan Jiang1,B,C, Fan Feng3,B,C, Bing Shi1,A,E, Zhonglin Jia1,A,C,E,F

1 State Key Laboratory of Oral Disease, West China College of Stomatology, Sichuan University, Chengdu, China

2 Division of Growth and Development and Section of Orthodontics, School of Dentistry, University of California, Los Angeles, USA

3 Air Force Dujiangyan Aviation Medicine Evaluation and Training Center, Chengdu, China


Background. Non-syndromic cleft lip with or without cleft palate (NSCL/P) are the most common human congenital birth defects with a complex etiology. MAFB has been reported as a candidate gene involved in the pathogenesis of NSCL/P from genome-wide association study (GWAS) findings, and no replication studies have been performed in Western Han Chinese.
Objectives. The aim of this study was to investigate the associations of MAFB among NSCL/P trios in Western Han Chinese.
Material and Methods. We selected 6 single nucleotide polymorphisms (SNPs) (rs6072081, rs6065259, rs17820943, rs13041247, rs11698025 and rs6102085) near MAFB based on previous GWAS findings and recruited 298 case-parents trios with NSCL/P from Western Han Chinese population, while genotypes were done by SNPscan technology.
Results. Strong evidence of an association was found at rs17820943 (p = 0.0023; odds ratio – ORtranmission = 0.7 and 95% confidence interval [CI]: 0.55–0.88) and rs13041247 (p = 0.0023; ORtranmission = 0.7 and 95% CI: 0.55–0.88) among NSCL/P; genotypic transmission-disequilibrium test (TDT) analysis further confirmed this. C/C homozygote at rs17820943 (z = 3.44 and p = 0.00058) and T/T homozygote at rs13041247 (z = 3.14 and p = 0.0017) was over-transmitted among NSCL/P, which indicated they could increase the risk of having an affected baby. Sliding window haplotype analysis showed that haplotypes consisting of C allele at rs17820943 and T allele at rs13041247 were still over-transmitted among NSCL/P (lowest p = 0.0021).
Conclusion. This study further confirmed that the targeted SNPs at MAFB were associated with NSCL/P trios from Western Han Chinese population, which provides more scientific evidence for the future research and genetic counseling.

Key words

single nucleotide polymorphism, transmission disequilibrium test, MAFB, haplotype analysis, non-syndromic cleft lip with or without cleft palate

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