Al-Hebshi Nezar Noor, Shamsan Amat-Alrahman Ahmed, Al-Ak'hali Mohammed Sultan
Molecular Research Laboratory, Faculty of Medical Sciences, University of Science and Technology, Sana'a, Yemen.
Mol Biol Int. 2012;2012:231309. doi: 10.1155/2012/231309. Epub 2012 Jun 19.
Aim. To assess IL-1A C[-889]T and IL-1B C[3954]T genotypes as well as haplotypes in relation to sever chronic periodontitis (SCP) among Yemenis. Materials and Methods. 40 cases with SCP and 40 sex- and age-matched controls were included; all were nonsmokers and free of systemic diseases. Genotyping at each locus was performed using an established PCR-RFLP assay. The Haploview and SimHap software were used to assess data for Hardy-Weinberg's equilibrium (HWE) and linkage disequilibrium (LD) and to obtain subject-level haplotypes. Multiple logistic regression was used to seek for associations in dominant, additive, and recessive models. Results. Mean plaque index (MPI) showed the strongest association with SCP (OR = 16). A significant LD was observed in the cases (D' = 0.80 and r(2) = 0.47). The genotype at each locus showed significant association with SCP in the recessive model (TT versus TC + CC) even after adjustment for MPI (OR = 6.29 & 461, resp.). The C-T haplotype conferred protection against SCP in a dominant manner (OR = 0.16). On the other hand, the T-T haplotype in double dose (recessive model) showed strong association with CP (OR = 15.6). Conclusions. IL-1 two-locus haplotype is associated with SCP in Yemenis. Haplotype-based analysis may be more suited for use in genetic association studies of periodontitis.
目的。评估白细胞介素-1A C[-889]T和白细胞介素-1B C[3954]T基因型以及单倍型与也门人中重度慢性牙周炎(SCP)的关系。材料与方法。纳入40例SCP患者和40例性别及年龄匹配的对照;所有受试者均不吸烟且无全身性疾病。使用既定的聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)对每个位点进行基因分型。使用Haploview和SimHap软件评估哈迪-温伯格平衡(HWE)和连锁不平衡(LD)数据,并获得个体水平的单倍型。采用多元逻辑回归在显性、加性和隐性模型中寻找关联。结果。平均菌斑指数(MPI)与SCP的关联最强(比值比[OR]=16)。在病例组中观察到显著的连锁不平衡(D'=0.80,r²=0.47)。即使在调整MPI后,每个位点的基因型在隐性模型(TT与TC+CC相比)中与SCP仍有显著关联(OR分别为6.29和4.61)。C-T单倍型以显性方式对SCP起到保护作用(OR=0.16)。另一方面,双倍剂量的T-T单倍型(隐性模型)与慢性牙周炎(CP)有很强的关联(OR=15.6)。结论。白细胞介素-1双位点单倍型与也门人的SCP有关。基于单倍型的分析可能更适合用于牙周炎的遗传关联研究。