Evaluation of facial hair-associated SNPs: a pilot study on male Pakistani Punjabi population.

Variation in facial hair is one of the most conspicuous features of facial appearance, particularly in South Asia and Middle East countries. A genome-wide association study in Latin Americans has identified multiple genetic variants at distinct loci being associated with facial hair traits including eyebrow thickness, beard thickness, and monobrow. In this pilot study, we have evaluated 16 SNPs associated with facial hair traits in 58 male individuals from the Punjabi population of Pakistan. In our sample, rs365060 in EDAR and rs12597422 in FTO showed significant association with monobrow, rs6684877 in MACF1 showed significant association with eyebrow thickness, and two SNPs in LOC105379031 (rs9654415 and rs7702331) showed significant association with beard thickness. Our results also suggest that genetic association may vary between ethnic groups and geographic regions. Although more data are needed to validate our results, our findings are of value in forensic molecular photofitting research in Pakistan.

An overview of the latest developments in facial imaging.

Facial imaging is a term used to describe methods that use facial images to assist or facilitate human identification. This pertains to two craniofacial identification procedures that use skulls and faces-facial approximation and photographic superimposition-as well as face-only methods for age progression/regression, the construction of facial graphics from eyewitness memory (including composites and artistic sketches), facial depiction, face mapping and newly emerging methods of molecular photofitting. Given the breadth of these facial imaging techniques, it is not surprising that a broad array of subject-matter experts participate in and/or contribute to the formulation and implementation of these methods (including forensic odontologists, forensic artists, police officers, electrical engineers, anatomists, geneticists, medical image specialists, psychologists, computer graphic programmers and software developers). As they are concerned with the physical characteristics of humans, each of these facial imaging areas also falls in the domain of physical anthropology, although not all of them have been traditionally regarded as such. This too offers useful opportunities to adapt established methods in one domain to others more traditionally held to be disciplines within physical anthropology (e.g. facial approximation, craniofacial superimposition and face photo-comparison). It is important to note that most facial imaging methods are not currently used for identification but serve to assist authorities in narrowing or directing investigations such that other, more potent, methods of identification can be used (e.g. DNA). Few, if any, facial imaging approaches can be considered honed end-stage scientific methods, with major opportunities for physical anthropologists to make meaningful contributions. Some facial imaging methods have considerably stronger scientific underpinnings than others (e.g. facial approximation versus face mapping), some currently lie entirely within the artistic sphere (facial depiction), and yet others are so aspirational that realistic capacity to obtain their aims has strongly been questioned despite highly advanced technical approaches (molecular photofitting). All this makes for a broad-ranging, dynamic and energetic field that is in a constant state of flux. This manuscript provides a theoretical snapshot of the purposes of these methods, the state of science as it pertains to them, and their latest research developments.

Civil society stakeholder views on forensic DNA phenotyping: Balancing risks and benefits.

Forensic DNA phenotyping (FDP) is an umbrella term for practices seeking to infer likely phenotypic characteristics based on crime scene DNA. Specifically, it is intended to help criminal investigators find an unknown suspected perpetrator by providing information about what the suspected perpetrator may look like based on the analysis of DNA left at the crime scene. While many purport the usefulness of FDP in this regard, its probabilistic nature, as well as its ability to disclose information about an individual that may be considered private raises a range of ethical and social concerns. This paper reports findings from interviews with thirty civil society stakeholders across nine European countries. Our findings reflect the wide variation of views in Europe regarding if, when and/or how the technology should be used in the criminal justice system, and we illustrate this by presenting the different ways in which our participants strike a balance between the potential usefulness of the technology, and the various ethical and social considerations.

A SNaPshot of next generation sequencing for forensic SNP analysis.

Forensic phenotyping can provide useful intelligence regarding the biogeographical ancestry (BGA) and externally visible characteristics (EVCs) of the donor of an evidentiary sample. Currently, single nucleotide polymorphism (SNP) based inference of BGA and EVCs is performed most commonly using SNaPshot(®), a single base extension (SBE) assay. However, a single SNaPshot multiplex PCR is limited to 30-40 SNPs. Next generation sequencing (NGS) offers the potential to genotype hundreds to thousands of SNPs from multiple samples in a single experimental run. The PCR multiplexes from five SNaPshot assays (SNPforID 52plex, SNPforID 34plex, Eurasiaplex, IrisPlex and an unpublished BGA assay) were applied to three different DNA template amounts (0.1, 0.2 and 0.3 ng) in three samples (9947A and 007 control DNAs and a male donor). The pooled PCR amplicons containing 136 unique SNPs were sequenced using Life Technologies' Ion Torrent™ PGM system. Approximately 72 Mb of sequence was generated from two 10 Mb Ion 314™ v1 chips. Accurate genotypes were readily obtained from all three template amounts. Of a total of 408 genotypes, 395 (97%) were fully concordant with SNaPshot across all three template amounts. Of those genotypes discordant with SNaPshot, six Ion Torrent sequences (1.5%) were fully concordant with Sanger sequencing across the three template amounts. Seven SNPs (1.7%) were either discordant between template amounts or discordant with Sanger sequencing. Sequence coverage observed in the negative control, and, allele coverage variation for heterozygous genotypes highlights the need to establish a threshold for background levels of sequence output and heterozygous balance. This preliminary study of the Ion Torrent PGM system has demonstrated considerable potential for use in forensic DNA analyses as a low to medium throughput NGS platform using established SNaPshot assays.

Toward DNA-based facial composites: preliminary results and validation.

The potential of constructing useful DNA-based facial composites is forensically of great interest. Given the significant identity information coded in the human face these predictions could help investigations out of an impasse. Although, there is substantial evidence that much of the total variation in facial features is genetically mediated, the discovery of which genes and gene variants underlie normal facial variation has been hampered primarily by the multipartite nature of facial variation. Traditionally, such physical complexity is simplified by simple scalar measurements defined a priori, such as nose or mouth width or alternatively using dimensionality reduction techniques such as principal component analysis where each principal coordinate is then treated as a scalar trait. However, as shown in previous and related work, a more impartial and systematic approach to modeling facial morphology is available and can facilitate both the gene discovery steps, as we recently showed, and DNA-based facial composite construction, as we show here. We first use genomic ancestry and sex to create a base-face, which is simply an average sex and ancestry matched face. Subsequently, the effects of 24 individual SNPs that have been shown to have significant effects on facial variation are overlaid on the base-face forming the predicted-face in a process akin to a photomontage or image blending. We next evaluate the accuracy of predicted faces using cross-validation. Physical accuracy of the facial predictions either locally in particular parts of the face or in terms of overall similarity is mainly determined by sex and genomic ancestry. The SNP-effects maintain the physical accuracy while significantly increasing the distinctiveness of the facial predictions, which would be expected to reduce false positives in perceptual identification tasks. To the best of our knowledge this is the first effort at generating facial composites from DNA and the results are preliminary but certainly promising, especially considering the limited amount of genetic information about the face contained in these 24 SNPs. This approach can incorporate additional SNPs as these are discovered and their effects documented. In this context we discuss three main avenues of research: expanding our knowledge of the genetic architecture of facial morphology, improving the predictive modeling of facial morphology by exploring and incorporating alternative prediction models, and increasing the value of the results through the weighted encoding of physical measurements in terms of human perception of faces.