PDF(Pubmed)
Abstract：
Celiac disease (CD) is a complicated autoimmune disease that is caused by gluten sensitivity. It was commonly believed that CD only affected white Europeans, but recent findings show that it is also prevailing in some other racial groups, like South Asians, Caucasians, Africans, and Arabs. Genetics plays a profound role in increasing the risk of developing CD. Genetic Variations in non-HLA genes such as LPP, ZMIZ1, CCR3, and many more influence the risk of CD in various populations. This study aimed to explore the association between LPP rs1464510 and ZMIZ1 rs1250552 and CD in the Punjabi Pakistani population. For this, a total of 70 human subjects were selected and divided into healthy controls and patients. Genotyping was performed using an in-house-developed tetra-amplification refractory mutation system polymerase chain reaction. Statistical analysis revealed a significant association between LPP rs1464510 (χ2 = 4.421, p = 0.035) and ZMIZ1 rs1250552 (χ2 = 3.867, p = 0.049) and CD. Multinomial regression analysis showed that LPP rs1464510 A allele reduces the risk of CD by ~52% (OR 0.48, CI: 0.24-0.96, 0.037), while C allele-carrying subjects are at ~2.6 fold increased risk of CD (OR 3.65, CI: 1.25-10.63, 0.017). Similarly, the ZMIZ1 rs1250552 AG genotype significantly reduces the risk of CD by 73% (OR 0.26, CI: 0.077-0.867, p = 0.028). In summary, Genetic Variations in the LPP and ZMIZ1 genes influence the risk of CD in Punjabi Pakistani subjects. LPP rs1464510 A allele and ZMIZ1 AG genotype play a protective role and reduce the risk of CD.
摘要：
乳糜泻（CD）是一种复杂的自身免疫性疾病，由面筋敏感性引起。人们普遍认为CD只影响白人欧洲人，但是最近的发现表明，它在其他一些种族群体中也很普遍，像南亚人一样，高加索人,非洲人,和阿拉伯人。遗传学在增加患CD的风险中起着深远的作用。非HLA基因的遗传变异，如LPP，ZMIZ1，CCR3和更多的影响CD在不同人群中的风险。本研究旨在探讨巴基斯坦旁遮普人中LPPrs1464510和ZMIZ1rs1250552与CD之间的关联。为此，总共选择了70名人类受试者，并将其分为健康对照和患者。使用内部开发的四扩增难治性突变系统聚合酶链反应进行基因分型。统计分析表明，LPPrs1464510（χ2=4.421，p=0.035）和ZMIZ1rs1250552（χ2=3.867，p=0.049）与CD之间存在显着关联。多项回归分析显示,LPPrs1464510A等位基因使CD的发病风险降低~52%(OR0.48,CI:0.24-0.96,0.037),而携带C等位基因的受试者患CD的风险增加约2.6倍（OR3.65，CI：1.25-10.63，0.017）。同样，ZMIZ1rs1250552AG基因型显著降低了73%的CD风险(OR0.26,CI:0.077-0.867,p=0.028)。总之,LPP和ZMIZ1基因的遗传变异影响旁遮普巴基斯坦受试者的CD风险。LPPrs1464510A等位基因和ZMIZ1AG基因型发挥保护作用，降低CD的风险。
