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Association of JARID 2 polymorphisms with non‐syndromic orofacial clefts in northern Chinese Han population
Author(s) -
Hao Yanru,
Mi Na,
Jiao Xiaohui,
Zheng Xudong,
Song Tao,
Zhuang Deshu,
Tian Subao,
Feng Dongfei
Publication year - 2015
Publication title -
journal of oral pathology and medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.887
H-Index - 83
eISSN - 1600-0714
pISSN - 0904-2512
DOI - 10.1111/jop.12244
Subject(s) - haplotype , craniofacial , snp , genotyping , genotype , genetics , logistic regression , biology , population , case control study , single nucleotide polymorphism , medicine , gene , environmental health
Objectives Non‐syndromic orofacial clefts ( NSOC ) are the most common human craniofacial malformation in all worldwide populations. Recently, the jumoji AT ‐rich interaction domain 2 ( JARID 2 ) had been reported to be a novel candidate gene for non‐syndromic cleft lip with or without cleft palate ( CL /P). The SNP s rs2076056, rs2237138 and rs2299043 in JARID 2 were highly significant in Italian families. Material and Methods In the current research, a case–control study was conducted to examine the association between these three SNP s and NSOC in a northern Chinese Han population. Genotyping of the three SNP s were performed using SN aPshot minisequencing technique. Results Distribution of rs2237138 genotypes in CL /P group was different from those in the control group ( P = 0.04), but significant results did not persist after Benjamini and Hochberg false discovery rate ( FDR ) correction for multiple tests. Further logistic regression analysis showed that rs2237138 GG genotypes were associated with decreased CL /P susceptibility ( OR = 0.34, 95% CI = 0.13–0.84), compared with the AA wild‐type homozygote. For the haplotype CGT , a statistically difference was identified between the CL /P group and controls ( P = 0.04). And carriers of GAT haplotype were considered to be less frequent among cleft palate only group as compared to controls ( P = 0.02). However, both of the haplotypes association did not remain statistically significant after Benjamini and Hochberg FDR correction. Conclusion We got a weak association between these polymorphisms and NSOC in both single‐marker and haplotype analyses. Our data further strengthen the conclusion that JARID 2 polymorphisms are associated with NSOC susceptibility.