IRF6基因SNPs与新疆维吾尔族非综合征型唇腭裂相关性研究

Association between IRF6 gene SNPs and non-syndromic cleft lip with or without cleft palate in Xinjiang Uyghur population

目的:探讨IRF6基因rs2235371、rs2013162、rs2235377位点单核苷酸多态性与新疆地区维吾尔人群非综合征型唇腭裂(NSCL/P)的相关性。方法:试验组为新疆地区世居维吾尔族NSCL/P患者100例,对照组为60例因上呼吸道感染而住院的儿童,用二代测序技术对血样进行DNA测序,将测序结果与基因组数据库进行比较,进行遗传学分析。结果:与对照组相比,NSCL/P组rs2235371、rs2013162、rs2235377位点基因型及等位基因频率分布差异无统计学意义(P>0.05)。以上3个位点位于同一个单倍体域,rs2235371和rs2235377等2个位点存在较强的连锁不平衡(r2=0.949,D'=0.974)。单倍体域里推测出最常见的单倍体型共3种:CCT>CAT>TAC,3种单倍体型在病例组与对照组间分布差别无统计学意义(P>0.05)。结论:IRF6基因rs2235371、rs2013162、rs2235377位点SNPs与新疆维吾尔族人群唇腭裂发病可能存在相关性。

Objective： To study the association between rs2235371, rs2013162, rs2235377 SNPs in interferon regulatory factor 6 （ IRF6 ） gene and non- syndromic cleft lip with or without cleft palate （NSCL/P） in Xinjiang Uyghur population. Methods： 100 Uyghur NSCL/P patients from Xinjiang were included in the case group and 60 Uyghur inpatients with upper respiratory tract infection were se- lected in the control group. Next, generation sequencing was used, DNA sequencing results were compared with the information on the genome database and genetic analysis were made. Results： There were no significant differences in the frequency distribution of both genotypes and alles when the cases were campared with the controls at the rs2235371, rs2013162 and rs2235377 loci（ P 〉 0.05 ）. 2 Above three loci were located in the same block, rs2235371 and rs2235377 loci presents the strong linkage dlseqmhbrmm（ r = 0. 949, D＇= 0. 974）. Possible haplotypes were ： CCT 〉 CAT 〉 TAC, and there was no significant difference between the cases and controls in haplotype distribution（ P 〉 0.05 ）. Conclusion： Polymorphisms of rs2235371, rs2013162 and rs2235377 in IRF6 gene may be associ- ated with NSCL/P in Xinjiang Uygur people.