School of Medical Lab Technology, Minhaj University Lahore, Main Campus, 45770 Lahore, Pakistan.
School of Medical Lab Technology, Minhaj University Lahore, Main Campus, 45770 Lahore, Pakistan.
Hum Immunol. 2024 Sep;85(5):111083. doi: 10.1016/j.humimm.2024.111083. Epub 2024 Aug 6.
The Punjabi population, constituting over 45 % of the country's total population, holds the highest prevalence in Pakistan. To understand their HLA genetics, we genotyped 389 Punjabi subjects for major Class-I loci using the PCR-SSO Luminex® method. Our study identified a total of 162 alleles, including 41 different HLA-A, 72 HLA-B, and 49 HLA-C alleles. The most common alleles included A11:01 (14.6 %), A01:01 (11.8 %), A24:02 (11.3 %); B40:06 (13.3 %), B08:01 (10.9 %), B51:01 (8.7 %); C15:02 (15.5 %), C07:02 (15.3 %), and C04:01 (10.8 %). However, only locus B showed a significant deviation from HWE. The dominant Class I haplotype was A24:02-B40:06-C15:02, followed by A11:01-B40:06-C*15:02, while significant LD was observed between all pairs of HLA loci. A distinct genetic makeup was observed in the Pakistani Punjabis as compared to Indian Punjabis, emphasizing the impact of the Indo-Pak partition and religious choices for marriage. In comparison to country's other ethnic groups, the Pakistani population exhibited 76 different alleles at a low field-resolution, with the Punjabi population having highest polymorphism. Phylogenetic analysis revealed that the Punjabi population is most closely related to the Sindhi population, while both populations sharing ancient connections with the Burusho population. These findings have significant implications for transplantation procedures, personalized medicine, disease susceptibility, and evolutionary studies.
旁遮普人占该国总人口的 45%以上，是巴基斯坦人口中患病率最高的人群。为了了解他们的 HLA 遗传学，我们使用 PCR-SSO Luminex®方法对 389 名旁遮普人进行了主要 I 类基因座的基因分型。我们的研究总共确定了 162 个等位基因，包括 41 个不同的 HLA-A、72 个 HLA-B 和 49 个 HLA-C 等位基因。最常见的等位基因包括 A11:01（14.6%）、A01:01（11.8%）、A24:02（11.3%）；B40:06（13.3%）、B08:01（10.9%）、B51:01（8.7%）；C15:02（15.5%）、C07:02（15.3%）和 C04:01（10.8%）。然而，只有 B 基因座显示出与 HWE 的显著偏差。主要的 I 类单倍型是 A24:02-B40:06-C15:02，其次是 A11:01-B40:06-C*15:02，而所有 HLA 基因座之间都存在显著的 LD。与印度旁遮普人相比，巴基斯坦旁遮普人具有独特的遗传结构，这强调了印度-巴基斯坦分治和婚姻中宗教选择的影响。与该国的其他族群相比，巴基斯坦族群在低场分辨率下表现出 76 个不同的等位基因，其中旁遮普族群具有最高的多态性。系统发生分析表明，旁遮普族群与信德族群最为密切相关，而这两个族群都与布鲁沙族群有着古老的联系。这些发现对移植程序、个性化医学、疾病易感性和进化研究具有重要意义。
