nach oben

Forensic Science, Medicine and Pathology

Erschienen in:

22.08.2022 | Original Article

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

verfasst von: Muhammad Jawad, Atif Adnan, Rahat Abdul Rehman, Shahid Nazir, Oyenike. A. Adeyemo, S. A. M. Amer, Sibte Hadi, Fan Liu, Chuan-Chao Wang, Allah Rakha

Erschienen in: Forensic Science, Medicine and Pathology | Ausgabe 3/2023

Einloggen, um Zugang zu erhalten

Abstract

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.

Nur mit Berechtigung zugänglich

Du QQ, Lu CL, Cong B, Li SJ. Research progress on forensic genetics of facial morphological depiction. Fa Yi Xue Za Zhi. 2019;35(5):531–6.PubMed

Marcińska M, Pośpiech E, Abidi S, Andersen JD, Van Den Berge M, Carracedo Á, Eduardoff M, Marczakiewicz-Lustig A, Morling N, Sijen T, Skowron M. Evaluation of DNA variants associated with androgenetic alopecia and their potential to predict male pattern baldness. PLoS One. 2015:22;10(5):e0127852.

Keating B, Bansal AT, Walsh S, Millman J, Newman J, Kidd K, Budowle B, Eisenberg A, Donfack J, Gasparini P, Budimlija Z. First all-in-one diagnostic tool for DNA intelligence: genome-wide inference of biogeographic ancestry, appearance, relatedness, and sex with the Identitas v1 Forensic Chip. Int J Legal Med. 2013;127(3):559–72.CrossRefPubMed

Gurkan C, Bulbul O, Kidd KK. Current and emerging trends in human identification and molecular anthropology. Front Genet. 2021:1041.

Beseris EA, Naleway SE, Carrier DR. Impact protection potential of mammalian hair: testing the pugilism hypothesis for the evolution of human facial hair. Integr Org Biol. 2020;2(1):obaa005.

Adhikari K, Fontanil T, Cal S, Mendoza-Revilla J, Fuentes-Guajardo M, Chacón-Duque J-C, et al. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. Nat Commun. 2016;7:10815.CrossRefPubMedPubMedCentral

The International HapMap Consortium. The International HapMap Project. Nature. 2003;426:789–96.

Spudich GM, Fernández-Suárez XM. Touring Ensembl: a practical guide to genome browsing. BMC Genomics. 2010;11:295.CrossRefPubMedPubMedCentral

Marshall OJ. PerlPrimer: cross-platform, graphical primer design for standard, bisulphite and real-time PCR. Bioinformatics. 2004;20:2471–2.CrossRefPubMed

10.

Podini D. PM Vallone. SNP genotyping using multiplex single base primer extension assays. In Single Nucleotide Polymorphisms: Methods and Protocols; Komar, A.A., Ed.; Humana Press: Totowa, NJ, USA. 2009;379–391.

11.

Rodriguez S, Gaunt TR, Day IN. Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies. Am J Epidemiol. 2009;169:505–14.CrossRefPubMedPubMedCentral

12.

Liu F, van der Lijn F, Schurmann C, Zhu G, Chakravarty MM, Hysi PG, et al. A genome-wide association study identifies five loci influencing facial morphology in Europeans. Gibson G, editor. PLoS Genet. 2012;8:e1002932.

13.

Forensic DNA phenotyping. predicting human appearance from crime scene material for investigative purposes. Forensic Sci Int Genet. 2015;18:33–48.CrossRef

14.

Phillips C. Forensic genetic analysis of bio-geographical ancestry. Forensic Sci Int Genet. 2015;18:49–65.CrossRefPubMed

15.

Pulker H, Lareu MV, Phillips C, Carracedo A. Finding genes that underlie physical traits of forensic interest using genetic tools. Forensic Sci Int Genet. 2007;1:100–4.CrossRefPubMed

16.

Butler K, Peck M, Hart J, Schanfield M, Podini D. Molecular, “eyewitness”: forensic prediction of phenotype and ancestry. Forensic Sci Int Genet Suppl Ser. 2011;3:e498–9.CrossRef

17.

Carvalho CMB, Pena SDJ. Optimization of a multiplex minisequencing protocol for population studies and medical genetics. Genet Mol Res GMR. 2005;4:115–25.PubMed

18.

Esteves LM, Bulhões SM, Brilhante MJ, Mota-Vieira L. Three multiplex snapshot assays for SNP genotyping in candidate innate immune genes. BMC Res Notes. 2013;6:54.CrossRefPubMedPubMedCentral

19.

Hardy GH. Mendelian proportions in a mixed population. Science. 1908;28:49–50.CrossRefPubMed

20.

Butler JM, Decker AE, Kline MC, Vallone PM. Chromosomal duplications along the Y-chromosome and their potential impact on Y-STR interpretation. J Forensic Sci. 2005;50:853–9.CrossRefPubMed

21.

Cox DG, Kraft P. Quantification of the power of Hardy-Weinberg equilibrium testing to detect genotyping error. Hum Hered. 2006;61:10–4.CrossRefPubMed

22.

Pośpiech E, Karłowska-Pik J, Kukla-Bartoszek M, Woźniak A, Boroń M, Zubańska M, Jarosz A, Bronikowska A, Grzybowski T, Płoski R, Spólnicka M. Overlapping association signals in the genetics of hair-related phenotypes in humans and their relevance to predictive DNA analysis. Forensic Sci Int Genet. 2022;1(59): 102693.CrossRef

23.

Mok KW, Saxena N, Heitman N, Grisanti L, Srivastava D, Muraro MJ, Jacob T, Sennett R, Wang Z, Su Y, Yang LM. Dermal condensate niche fate specification occurs prior to formation and is placode progenitor dependent. Dev Cell. 2019;48(1):32–48.CrossRefPubMed

24.

Baumeister FA, Egger J, Schildhauer MT, Stengel-Rutkowski S. Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion. Clin Genet. 1993;44:121–8.CrossRefPubMed

25.

Miller JD, McKusick VA, Malvaux P, Temtamy S, Salinas C. The 3-M syndrome: a heritable low birthweight dwarfism. Birth Defects Orig Artic Ser. 1975;11(5):39–47.PubMed

26.

HabibUllah H, Albaradie R, Bashir S. 3-M syndrome: a local case report. The American Journal of Case Reports. 2019;20:36.CrossRefPubMedPubMedCentral

27.

Urschel Jr HC. Poland syndrome. Seminars in thoracic and cardiovascular surgery. WB Saunders. 2009;21:89–94).

28.

Henningsen E, Svendsen MT, Lildballe DL, Jensen PK. A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia. Am J Med Genet A. 2014;164:2059–61.CrossRef

Titel: Evaluation of facial hair-associated SNPs: a pilot study on male Pakistani Punjabi population
verfasst von: Muhammad Jawad
Atif Adnan
Rahat Abdul Rehman
Shahid Nazir
Oyenike. A. Adeyemo
S. A. M. Amer
Sibte Hadi
Fan Liu
Chuan-Chao Wang
Allah Rakha
Publikationsdatum: 22.08.2022
Verlag: Springer US
Erschienen in: Forensic Science, Medicine and Pathology / Ausgabe 3/2023
Print ISSN: 1547-769X
Elektronische ISSN: 1556-2891
DOI: https://doi.org/10.1007/s12024-022-00515-z

Live-Webinar "Urologie und Sexualmedizin in der Praxis"

Springer Medizin

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

Abstract

Neu im Fachgebiet Pathologie

Assistierter Suizid durch Infusion von Thiopental

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Live-Webinar "Urologie und Sexualmedizin in der Praxis"

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 3/2023

Second and third lumbar vertebral parameters for prediction of sex, height, and age in the Iranian population

How much does a forensic autopsy cost in Spain?

IPMICALC: an Integrated Post-mortem Interval Calculator

Non-communicating rudimentary horn pregnancy presenting as sudden unexpected maternal death: an autopsy diagnosis

Opioid-related deaths in Ontario correctional facilities and penitentiaries (2009–2019)

Application of P/VB staining to identify antemortem injury in a decomposed cadaver

Neu im Fachgebiet Pathologie

Assistierter Suizid durch Infusion von Thiopental

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren