rs2032658

A comprehensive review of forensic applications of Y-chromosome DNA analysis, including Y-STR haplotyping for paternal lineage identification, paternity and kinship testing, familial searching, and bio-geographic ancestry inference. The paper illustrates these applications through the 14-year investigation of the 1999 Marianne Vaatstra murder case in the Netherlands, which was solved using Y-STR-based DNA dragnet and familial searching. The review discusses various Y-STR markers (9-27 loci), rapidly mutating Y-STRs for better discrimination, Y-SNP haplogroups for ancestry inference, and future directions in forensic Y-chromosome analysis.

Two-phase association study examining Y chromosome haplogroups and prostate cancer risk in 3,995 cases and 3,815 controls (Stage I) with replication in 1,272 European and 1,686 Ashkenazi Jewish cases. The rare E1b1b1c haplogroup showed nominally significant association with prostate cancer overall (P=0.012, OR=0.51; 95% CI 0.30-0.87) in Stage I, with meta-analysis of stages I and II revealing a nominally significant association with prostate cancer risk (P=0.010, OR=0.77; 95% CI 0.62-0.94).

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.