Department of Biotechnology, Faculty of Sciences, University of Sargodha, Sargodha 40162, Pakistan.
Centre of Excellence in Molecular Biology, University of the Punjab, Lahore 42000, Pakistan.
Genes (Basel). 2024 Jun 27;15(7):852. doi: 10.3390/genes15070852.
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- genes such as , , , 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 (χ = 4.421, = 0.035) and rs1250552 (χ2 = 3.867, = 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 rs1250552 AG genotype significantly reduces the risk of CD by 73% (OR 0.26, CI: 0.077-0.867, = 0.028). In summary, Genetic Variations in the LPP and genes influence the risk of CD in Punjabi Pakistani subjects. LPP rs1464510 A allele and AG genotype play a protective role and reduce the risk of CD.
乳癌风险相关基因 LPP 与 ZMIZ1 多态性与巴基斯坦旁遮普人群乳糜泻易感性的关联研究
乳糜泻（CD）是一种由麸质敏感性引起的复杂自身免疫性疾病。人们普遍认为 CD 仅影响白种欧洲人，但最近的研究结果表明，它也在其他一些种族群体中流行，如南亚人、高加索人、非洲人和阿拉伯人。遗传在增加 CD 发病风险方面起着深远的作用。非基因中的遗传变异，如 LPP 中的 rs1464510、 ZMIZ1 中的 rs1250552 等，影响着不同人群中 CD 的发病风险。本研究旨在探讨乳癌风险相关基因 LPP 中的 rs1464510 和 ZMIZ1 中的 rs1250552 与巴基斯坦旁遮普人群 CD 之间的关联。为此，共选择了 70 名人类受试者，并将其分为健康对照组和患者组。使用内部开发的四扩增 refractory mutation system 聚合酶链反应进行基因分型。统计分析显示，LPP rs1464510（χ=4.421， =0.035）和 rs1250552（χ2=3.867， =0.049）与 CD 之间存在显著关联。多项回归分析显示，LPP rs1464510 的 A 等位基因使 CD 的发病风险降低约 52%（OR 0.48，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（OR 3.65，CI：1.25-10.63，0.017）。同样， rs1250552 的 AG 基因型可使 CD 的发病风险显著降低 73%（OR 0.26，CI：0.077-0.867， =0.028）。综上所述，LPP 和 ZMIZ1 基因中的遗传变异影响着巴基斯坦旁遮普人群 CD 的发病风险。LPP rs1464510 的 A 等位基因和 rs1250552 的 AG 基因型发挥保护作用，降低 CD 的发病风险。
