Microarray Analysis of Two Single-Nucleotide Polymorphisms of Transforming Growth Factor Alpha in Patients With Nonsyndromic Cleft of North China

作者：Xu Wei; Han Weitian; Lu Yongping; Yao Wang; Li Zengjian; Fang Kai; Liu Qiang; Li Jianxin^*

来源：Cleft Palate-Craniofacial Journal, 2014, 51(4): 486-492.

DOI：10.1597/12-145

• microarray
• nonsyndromic cleft lip and/or cleft palate
• single-nucleotide polymorphism
• TGFA

Objective: To investigate the association between the TGFA: c.3851T > C (rs11466285) and TGFA: c.3822G > A (rs3771523) single-nucleotide polymorphisms (SNPs) and nonsyndromic cleft lip and/or cleft palate (CL/P) with microarray in north China.
Design and Setting: Test association by both case-control and case-parent analysis.
Subjects and Methods: Two SNPs of 150 controls, 166 cases, and 271 of their parents were genotyped using microarray based on the allele-specific primer extension, and chi-square statistics and family-based association test analyses were performed.
Results: Both sequencing and microarray analysis produced identical results. We found significant evidence of overtransmission of the C allele of c.3851T > C and the A allele of c.3822G > A in case-parent trios for CL/P but not for cleft palate only (CP). Significant differences for both genotypic and allelic distributions between cases and controls were found at c.3822G > A and c.3851T > C for CL/P but not for CP. The TGFA [C; G] and [T; A] haplotypes showed significant overtransmission.
Conclusions: These results support that two SNPs are associated with nonsyndromic CL/P but not for CP in northern Chinese populations. It was demonstrated that this microarray is suitable to test SNPs associated with nonsyndromic CL/P.

• 出版日期2014-7
• 单位中国医科大学