Association of MASP1 variants and haplotypes with leprosy.

The intron 1 and exon 12 haplotypes were unambiguously build with sequence-specific amplification. The phase between them (symbolized by “_”) was inferred using the expectation maximization algorithm. Official SNP nomenclature is given within parenthesis for the longest cDNA, corresponding to the mRNA transcript encoding MASP-1: ENST00000337774.9. Addit: Additive association model, which tests the hypothesis that homozygosity and heterozygosity for the minor allele are associated with leprosy (either with protection or with susceptibility), but homozygosity is stronger associated, than heterozygosity. Dom: Dominant association model, which tests the hypothesis that the carrier status of the minor allele (regardless if homozygous or heterozygous) is associated with leprosy (either with protection or with susceptibility). All associations were corrected for age, which was the only demographic factor that remained associated in the reduced model of logistic regression. *: GT_GTG + GT_CTG association. q*: Benjamini-Hochberg corrected p values; ns: not significant; OR: odds ratio; CI: confidence interval.内含子1与外显子12的单倍型通过序列特异性扩增得到明确构建。二者之间的相位（以"_"表示）通过期望最大化算法进行推断。针对编码MASP-1的mRNA转录本所对应的最长互补DNA（complementary DNA, cDNA），其官方单核苷酸多态性（Single Nucleotide Polymorphism, SNP）命名标注于括号内，转录本编号为ENST00000337774.9。Addit：加性关联模型，该模型检验如下假设：次要等位基因的纯合与杂合状态均与麻风病相关（既可能表现为保护作用，也可能表现为易感作用），且纯合状态的关联强度强于杂合状态。Dom：显性关联模型，该模型检验如下假设：携带次要等位基因的状态（无论为纯合还是杂合）均与麻风病相关（既可能表现为保护作用，也可能表现为易感作用）。所有关联分析均针对年龄进行了校正，年龄是经简化逻辑回归模型筛选后唯一仍具有关联意义的人口学因素。*：GT_GTG与GT_CTG的联合关联。q*：经本杰明-霍赫贝格（Benjamini-Hochberg）校正后的p值；ns：无统计学显著性；OR：优势比（Odds Ratio）；CI：置信区间（Confidence Interval）。