RSS-Feed abonnieren
DOI: 10.1055/s-0044-100280
Two Genetic Variants Associated with Plantar Fascial Disorders
Publikationsverlauf
Publikationsdatum:
13. März 2018 (online)
![](https://www.thieme-connect.de/media/sportsmed/201804/lookinside/thumbnails/5997_10-1055-s-0044-100280-1.jpg)
Abstract
Plantar fascial disorder is comprised of plantar fasciitis and plantar fibromatosis. Plantar fasciitis is the most common cause of heel pain, especially for athletes involved in running and jumping sports. Plantar fibromatosis is a rare fibrous hyperproliferation of the deep connective tissue of the foot. To identify genetic loci associated with plantar fascial disorders, a genome-wide association screen was performed using publically available data from the Research Program in Genes, Environment and Health including 21,624 cases of plantar fascial disorders and 80,879 controls. One indel (chr5:118704153:D) and one SNP (rs62051384) showed an association with plantar fascial disorders at genome-wide significance (p<5×10−8) with small effects (odds ratios=0.93 and 1.07 per allele, respectively). The indel chr5:118704153:D is located within TNFAIP8 (encodes a protein induced by TNF alpha) and rs62051384 is located within WWP2 (which is involved in proteasomal degradation). These DNA variants may be informative in explaining why some individuals are at higher risk for plantar fascial disorders than others.
-
References
- 1 Beeson P. Plantar fasciopathy: Revisiting the risk factors. Foot Ankle Surg 2014; 20: 160-165
- 2 Bolivar YA, Munuera PV, Padillo JP. Relationship between tightness of the posterior muscles of the lower limb and plantar fasciitis. Foot Ankle Int 2013; 34: 42-48
- 3 Boyle AP, Hong EL, Hariharan M, Cheng Y, Schaub MA, Kasowski M, Karczewski KJ, Park J, Hitz BC, Weng S, Cherry JM, Snyder M. Annotation of functional variation in personal genomes using RegulomeDB. Genome Res 2012; 22: 1790-1797
- 4 Breiner JA, Nelson M, Bredthauer BD, Neff JR, Bridge JA. Trisomy 8 and trisomy 14 in plantar fibromatosis. Cancer Genet Cytogenet 1999; 108: 176-177
- 5 Cochran WG. The combination of estimates from different experiments. Biometrics 1954; 10: 101-129
- 6 Consortium EP . An integrated encyclopedia of DNA elements in the human genome. Nature 2012; 489: 57-74
- 7 Consortium GT . Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans. Science 2015; 348: 648-660
- 8 Cox A, Dunning AM, Garcia-Closas M, Balasubramanian S, Reed MW, Pooley KA, Scollen S, Baynes C, Ponder BA, Chanock S, Lissowska J, Brinton L, Peplonska B, Southey MC, Hopper JL, McCredie MR, Giles GG, Fletcher O, Johnson N, dos Santos Silva I, Gibson L, Bojesen SE, Nordestgaard BG, Axelsson CK, Torres D, Hamann U, Justenhoven C, Brauch H, Chang-Claude J, Kropp S, Risch A, Wang-Gohrke S, Schurmann P, Bogdanova N, Dork T, Fagerholm R, Aaltonen K, Blomqvist C, Nevanlinna H, Seal S, Renwick A, Stratton MR, Rahman N, Sangrajrang S, Hughes D, Odefrey F, Brennan P, Spurdle AB, Chenevix-Trench G. Kathleen Cunningham Foundation Consortium for Research into Familial Breast C . Beesley J, Mannermaa A, Hartikainen J, Kataja V, Kosma VM, Couch FJ, Olson JE, Goode EL, Broeks A, Schmidt MK, Hogervorst FB, Van't Veer LJ, Kang D, Yoo KY, Noh DY, Ahn SH, Wedren S, Hall P, Low YL, Liu J, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Sigurdson AJ, Stredrick DL, Alexander BH, Struewing JP, Pharoah PD, Easton DF. Breast Cancer Association C . A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet 2007; 39: 352-358
- 9 Harriss DJ, Macsween A, Atkinson G. Standards for Ethics in Sport and Exercise Science Research: 2018 Update. Int J Sports Med 2017; 38: 1126-1131
- 10 Higgins JPT, Thompson SG, Deeks JJ, Altman DG. Measuring inconsistency in meta-analyses. BMJ 2003; 327: 557-560
- 11 Hill CL, Gill TK, Menz HB, Taylor AW. Prevalence and correlates of foot pain in a population-based study: The North West Adelaide health study. J Foot Ankle Res 2008; 1: 2
- 12 Hoffmann TJ, Kvale MN, Hesselson SE, Zhan Y, Aquino C, Cao Y, Cawley S, Chung E, Connell S, Eshragh J, Ewing M, Gollub J, Henderson M, Hubbell E, Iribarren C, Kaufman J, Lao RZ, Lu Y, Ludwig D, Mathauda GK, McGuire W, Mei G, Miles S, Purdy MM, Quesenberry C, Ranatunga D, Rowell S, Sadler M, Shapero MH, Shen L, Shenoy TR, Smethurst D, Van den Eeden SK, Walter L, Wan E, Wearley R, Webster T, Wen CC, Weng L, Whitmer RA, Williams A, Wong SC, Zau C, Finn A, Schaefer C, Kwok PY, Risch N. Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array. Genomics 2011; 98: 79-89
- 13 Hoffmann TJ, Zhan Y, Kvale MN, Hesselson SE, Gollub J, Iribarren C, Lu Y, Mei G, Purdy MM, Quesenberry C, Rowell S, Shapero MH, Smethurst D, Somkin CP, Van den Eeden SK, Walter L, Webster T, Whitmer RA, Finn A, Schaefer C, Kwok PY, Risch N. Design and coverage of high throughput genotyping arrays optimized for individuals of East Asian, African American, and Latino race/ethnicity using imputation and a novel hybrid SNP selection algorithm. Genomics 2011; 98: 422-430
- 14 Hoggart CJ, Clark TG, De Iorio M, Whittaker JC, Balding DJ. Genome-wide significance for dense SNP and resequencing data. Genet Epidemiol 2008; 32: 179-185
- 15 Howie B, Fuchsberger C, Stephens M, Marchini J, Abecasis GR. Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat Genet 2012; 44: 955-959
- 16 Howie B, Marchini J, Stephens M. Genotype imputation with thousands of genomes. G3 (Bethesda) 2011; 1: 457-470
- 17 Howie BN, Donnelly P, Marchini J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 2009; 5: e1000529
- 18 Ioannidis JPA, Patsopoulos NA, Evangelou E. Heterogeneity in meta-analyses of genome-wide association investigations. PLoS One 2007; 2: e841
- 19 Jorgenson E, Makki N, Shen L, Chen DC, Tian C, Eckalbar WL, Hinds D, Ahituv N, Avins A. A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. Nat Commun 2015; 6: 10130
- 20 Lareau CR, Sawyer GA, Wang JH, DiGiovanni CW. Plantar and medial heel pain: diagnosis and management. J Am Acad Orthop Surg 2014; 22: 372-380
- 21 Lou Y, Liu S. The TIPE (TNFAIP8) family in inflammation, immunity, and cancer. Mol Immunol 2011; 49: 4-7
- 22 Marchini J, Howie B. Genotype imputation for genome-wide association studies. Nat Rev Genet 2010; 11: 499-511
- 23 Panagiotou OA, Ioannidis JPA. Genome-Wide Significance Project . What should the genome-wide significance threshold be? Empirical replication of borderline genetic associations. Int J Epidemiol 2012; 41: 273-286
- 24 Pe'er I, Yelensky R, Altshuler D, Daly MJ. Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet Epidemiol 2008; 32: 381-385
- 25 Pirozzi G, McConnell SJ, Uveges AJ, Carter JM, Sparks AB, Kay BK, Fowlkes DM. Identification of novel human WW domain-containing proteins by cloning of ligand targets. J Biol Chem 1997; 272: 14611-14616
- 26 Riddle DL, Pulisic M, Pidcoe P, Johnson RE. Risk factors for Plantar fasciitis: a matched case-control study. J Bone Joint Surg Am 2003; 85-a: 872-877
- 27 Roos TR, Roos AK, Avins AL, Ahmed MA, Kleimeyer JP, Frederidson M, Ioannidis JP, Dragoo JL, Kim SK. Genome-wide association study identifies a locus associated with rotator cuff injury. PLoS One 2017; 12: e0189317-1746
- 28 Sawyer JR, Sammartino G, Gokden N, Nicholas RW. A clonal reciprocal t(2;7)(p13;p13) in plantar fibromatosis. Cancer Genet Cytogenet 2005; 158: 67-69
- 29 Veith NT, Tschernig T, Histing T, Madry H. Plantar fibromatosis--topical review. Foot Ankle Int 2013; 34: 1742-1746