Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
J Acquir Immune Defic Syndr. 2013 May 1;63(1):27-30. doi: 10.1097/QAI.0b013e318285cf36.
KCNS1 and GCH1 were investigated for their association with pain intensity in black Southern Africans with HIV-associated sensory neuropathy. Previously associated single nucleotide polymorphisms (SNPs) were supplemented with population-specific tagSNPs. No SNPs in KCNS1 were individually associated with pain intensity. However, several haplotypes of population-specific tagSNPs correlated with pain intensity on univariate analysis and after correcting for age, gender, and CD4 T-cell count. This suggests that the haplotypes incorporate the causative SNP(s). No SNPs or haplotypes in GCH1 were associated with pain intensity. The study shows the importance of conducting association analyses in different ethnic groups, using population-based marker selection.
KCNS1 和 GCH1 与 HIV 相关感觉神经病变的南非黑人的疼痛强度有关。先前相关的单核苷酸多态性 (SNP) 用群体特异性标签 SNP 进行了补充。KCNS1 中没有 SNP 与疼痛强度单独相关。然而,在单变量分析和校正年龄、性别和 CD4 T 细胞计数后,一些群体特异性标签 SNP 的单倍型与疼痛强度相关。这表明这些单倍型包含了致病 SNP。GCH1 中的 SNP 或单倍型与疼痛强度无关。该研究表明,在不同的种族群体中,使用基于群体的标记选择进行关联分析的重要性。