Willie Barne, Gare Janet, King Christopher L, Zimmerman Peter A, Mehlotra Rajeev K
Papua New Guinea Institute of Medical Research, Goroka, Eastern Highlands Province, Papua New Guinea.
Center for Global Health and Diseases, Case Western Reserve University School of Medicine, Biomedical Research Building, 4 Floor, 2109 Adelbert Rd., Cleveland, Ohio 44106-2624, United States of America.
P N G Med J. 2017 Mar-Jun;60(1-2):51-59.
Polymorphisms in Toll-like receptor () and human β-defensin (hBD, encoded by ) genes have been evaluated for their associations with HIV infection and disease outcomes. Those studies, conducted in various populations under a variety of study designs, generally revealed that specific single nucleotide polymorphisms (SNPs) in , 8, and genes, and copy number variation (CNV) in (encoding hBD-2), (encoding hBD-3), and (encoding hBD-4) genes are among potential genetic factors that can affect susceptibility to HIV infection and/or disease progression. The information regarding their prevalence in Papua New Guinea (PNG) is very limited for SNPs, and not available for CNV. The present study provides a preliminary assessment of these genetic polymorphisms in samples collected from the Wosera (East Sepik Province, n = 29) and Liksul (Madang Province, n = 23) areas. Wosera samples were analyzed for a total of 41 SNPs in 8 genes (, 8, and ), and both sample sets were analyzed for CNV in genes. A number of SNPs were not detected, and many other SNPs were present at low frequencies (minor allele frequencies ≤0.05) in the Wosera samples. The copy numbers were significantly different between the two sample sets (p = 0.024). Validation of these results, using larger sample sizes as well as samples from other areas of PNG, is warranted. In addition, genetic association studies are needed to estimate the effects of these polymorphisms on HIV infection and disease progression in PNG.
已对Toll样受体（）和人类β-防御素（由编码的hBD）基因中的多态性与HIV感染及疾病转归的关联进行了评估。这些在不同人群中采用多种研究设计开展的研究普遍显示，、8和基因中的特定单核苷酸多态性（SNP），以及（编码hBD-2）、（编码hBD-3）和（编码hBD-4）基因中的拷贝数变异（CNV）是可能影响HIV感染易感性和/或疾病进展的潜在遗传因素。关于其在巴布亚新几内亚（PNG）的流行情况，SNP的信息非常有限，而CNV的信息则不可得。本研究对从沃塞拉（东塞皮克省，n = 29）和利克苏尔（马当省，n = 23）地区采集的样本中的这些基因多态性进行了初步评估。对沃塞拉样本的8个基因（、8和）中的总共41个SNP进行了分析，并对两个样本组的基因CNV进行了分析。在沃塞拉样本中未检测到许多SNP，许多其他SNP的频率较低（次要等位基因频率≤0.05）。两个样本组之间的拷贝数存在显著差异（p = 0.024）。有必要使用更大的样本量以及来自PNG其他地区的样本对这些结果进行验证。此外，还需要开展基因关联研究，以评估这些多态性对PNG地区HIV感染和疾病进展的影响。
