rs2032673

This study evaluated the Ion AmpliSeq HID SNP panel (103 autosomal SNPs and 33 Y-SNPs) using Ion Torrent PGM sequencing for forensic human identification. With 10 ng template DNA, all SNPs were detected with high concordance to Illumina GAIIx results, though rs1029047 showed genotyping errors due to adjacent homopolymic stretches. The paper demonstrates that massively parallel sequencing can successfully genotype large SNP batteries with high accuracy, even with degraded DNA down to 1 ng.

This association study examined Y chromosome haplogroup effects on HIV progression and HAART response in 3,490 subjects (2,292 European Americans, 1,233 African Americans) from five HIV cohorts. Y chromosome haplogroup I (Y-I) in European Americans showed significantly faster AIDS progression with relative hazards of 2.05-2.84 (p=0.001-0.007) and longer time to viral suppression on HAART (RH=0.62, p=0.001). These associations remained significant after false-discovery-rate correction and were independent of known autosomal AIDS restriction genes. No significant associations were found in African Americans.