Frequency of Growth Differentiation Factor 5 rs143383 and asporin D-repeat polymorphisms in patients with hand and knee osteoarthritis in Kurdistan province, Iran.
Aged
Alleles
Cartilage, Articular
/ physiopathology
Case-Control Studies
Extracellular Matrix Proteins
/ genetics
Female
Genetic Predisposition to Disease
/ ethnology
Growth Differentiation Factor 5
/ genetics
Hand
/ physiopathology
Humans
Iran
/ epidemiology
Male
Middle Aged
Osteoarthritis, Knee
/ epidemiology
Polymorphism, Genetic
/ genetics
Polymorphism, Single Nucleotide
asporin
growth/differentiation factor-5
osteoarthritis
polymorphism
Journal
International journal of rheumatic diseases
ISSN: 1756-185X
Titre abrégé: Int J Rheum Dis
Pays: England
ID NLM: 101474930
Informations de publication
Date de publication:
May 2021
May 2021
Historique:
revised:
05
11
2020
received:
27
06
2020
accepted:
17
11
2020
pubmed:
17
4
2021
medline:
1
12
2021
entrez:
16
4
2021
Statut:
ppublish
Résumé
Osteoarthritis (OA) is the most common chronic joint disorder, resulting from the breakdown of joint cartilage. It occurs in the knees, hands, and hips, leading to pain, stiffness, inflammation, and swelling. In this study, 100 hand and knee OA patients, meeting the American College of Rheumatology criteria were included in the case group, and 100 healthy individuals were allocated to the control group. Blood samples were collected from the participants. After DNA extraction, genotyping was carried out for GDF5 rs143383 C/T polymorphism by allele-specific polymerase chain reaction (ASPCR) and for D-repeat alleles of asporin (ASPN) by conventional PCR assay. The results showed that the frequency of the D14 allele of ASPN was significantly higher than other alleles in the case group (P = .0001). Also, the frequency of the D14 allele among women was significantly higher than in men (P = .004). Moreover, the frequency of the TT allele in GDF5 rs143383 C/T polymorphism was significantly higher than the CC and CT alleles in the case group, compared with the control group (P = .001). A significant difference was found between the TT allele and other alleles in female and male patients compared with the control group (P = .02). The D14 allele of the ASPN gene and TT allele of the GDF5 gene (rs143383 + 104T/C) are associated with hand and knee OA in the Kurdish population, indicating that these alleles could be risk factors for OA, at least in our populations.
Identifiants
pubmed: 33861510
doi: 10.1111/1756-185X.14097
doi:
Substances chimiques
ASPN protein, human
0
Extracellular Matrix Proteins
0
GDF5 protein, human
0
Growth Differentiation Factor 5
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
694-700Subventions
Organisme : Kurdistan University of Medical Sciences
ID : 1394.87
Informations de copyright
© 2021 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd.
Références
Oliveria SA, Felson DT, Reed JI, Cirillo PA, Walker AM. Incidence of symptomatic hand, hip, and knee osteoarthritis among patients in a health maintenance organization. Arthritis Rheumatol. 1995;38(8):1134-1141.
Peach CA, Carr AJ, Loughlin J. Recent advances in the genetic investigation of osteoarthritis. Trends Mol Med. 2005;11(4):186-191.
Miyamoto Y, Mabuchi A, Shi D, et al. A functional polymorphism in the 5 [variant prime] UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat Genet. 2007;39(4):529.
Southam L, Rodriguez-Lopez J, Wilkins JM, et al. An SNP in the 5′-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage. Hum Mol Genet. 2007;16(18):2226-2232.
Zhang Y, Jordan JM. Epidemiology of osteoarthritis. Clin Geriatr Med. 2010;26(3):355-369.
Tehrani-Banihashemi A, Davatchi F, Jamshidi AR, Faezi T, Paragomi P, Barghamdi M. Prevalence of osteoarthritis in rural areas of Iran: a WHO-ILAR COPCORD study. Int J Rheum Dis. 2014;17(4):384-388.
Davatchi F, Sandoughi M, Moghimi N, et al. Epidemiology of rheumatic diseases in Iran from analysis of four COPCORD studies. Int J Rheum Dis. 2016;19(11):1056-1062.
Pfleger2 ADWB. Burden of major musculoskeletal conditions. 2000 -2010.
Andrianakos AA, Kontelis LK, Karamitsos DG, et al. Prevalence of symptomatic knee, hand, and hip osteoarthritis in Greece. The ESORDIG study. J Rheumatol. 2006;33(12):2507-2513.
Grotle M, Hagen KB, Natvig B, Dahl FA, Kvien TK. Prevalence and burden of osteoarthritis: results from a population survey in Norway. J Rheumatol. 2008;35(4):677-684.
Neogi T, Zhang Y. Epidemiology of osteoarthritis. Rheum Dis Clin North Am. 2013;39(1):1-19.
Ayerst BI, Smith RA, Nurcombe V, Day AJ, Merry CL, Cool SM. Growth differentiation factor 5-mediated enhancement of chondrocyte phenotype is inhibited by heparin: implications for the use of heparin in the clinic and in tissue engineering applications. Tissue Eng Part A. 2017;23(7-8):275-292.
Evangelou E, Chapman K, Meulenbelt I, et al. Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand. Arthritis Rheumatol. 2009;60(6):1710-1721.
Tsezou A. Osteoarthritis year in review 2014: genetics and genomics. Osteoarthritis Cartilage. 2014;22(12):2017-2024.
Valdes AM, Evangelou E, Kerkhof HJM, et al. The GDF5 rs143383 polymorphism is associated with osteoarthritis of the knee with genome-wide statistical significance. Ann Rheum Dis. 2011;70(5):873-875.
Capellini TD, Chen H, Cao J, et al. Ancient selection for derived alleles at a GDF5 enhancer influencing human growth and osteoarthritis risk. Nat Genet. 2017;49(8):1202-1210.
Zhang R, Yao J, Xu P, et al. A comprehensive meta-analysis of association between genetic variants of GDF5 and osteoarthritis of the knee, hip and hand. Inflamm Res. 2015;64(6):405-414.
Miyamoto Y, Mabuchi A, Shi D, et al. A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat Genet. 2007;39(4):529-533.
Xiao JL, Meng JH, Gan YH, Zhou CY, Ma XC. Association of GDF5, SMAD3 and RUNX2 polymorphisms with temporomandibular joint osteoarthritis in female Han Chinese. J Oral Rehabil. 2015;42(7):529-536.
Tsezou A, Satra M, Oikonomou P, Bargiotas K, Malizos KN. The growth differentiation factor 5 (GDF5) core promoter polymorphism is not associated with knee osteoarthritis in the Greek population. J Orthop Res. 2008;26(1):136-140.
Garcia-Alvarado F, Rosales-Gonzalez M, Arellano-Perez-Vertti D, Espino-Silva P, Meza-Velazquez M, Ruiz-Flores P. Association between the SNP rs143383 + 104T/C in the GDF5 gene and the risk of knee osteoarthritis in a population from Northern Mexico-a case-control study. Genet Test Mol Biomarkers. 2018;22(8):503-506.
Taipale M, Solovieva S, Leino-Arjas P, Mannikko M. Functional polymorphisms in ASPN and CILP together with joint loading predispose to hand osteoarthritis. BMC Genet. 2017;18(1):108.
Zhu X, Jiang L, Lu Y, et al. Association of aspartic acid repeat polymorphism in the ASPN gene with osteoarthritis of knee, hip, and hand: A PRISMA-compliant meta-analysis. Medicine. 2018;97(12):e0200.
Maris P, Blomme A, Palacios AP, et al. ASPN is a fibroblast-derived TGF-beta1 inhibitor and a tumor suppressor associated with good prognosis in breast cancer. PLoS Medicine. 2015;12(9):e1001871.
Sobhan MR, Mehdinejad M, Jamaladini MH, Mazaheri M, Zare-Shehneh M, Neamatzadeh H. Association between aspartic acid repeat polymorphism of the ASPN gene and risk of knee osteoarthritis: a systematic review and meta-analysis. Acta Orthop Traumatol Turc. 2017;51(5):409-415.
Loughlin J. Genetic indicators and susceptibility to osteoarthritis. Br J Sports Med. 2011;45(4):278-282.
Wang W, Rigueur D, Lyons KM. TGFbeta signaling in cartilage development and maintenance. Birth Defects Res C Embryo Today. 2014;102(1):37-51.
Liu R, Yuan X, Yu J, et al. An updated meta-analysis of the ASPN gene D-repeat in knee osteoarthritis: effects of gender and ethnicity. J Orthop Surg Res. 2017;12(1):148.
Shi D, Dai J, Zhu P, et al. Association of the D repeat polymorphism in the ASPN gene with developmental dysplasia of the hip: a case-control study in Han Chinese. Arthritis Res Ther. 2011;13(1):R27.
Kizawa H, Kou I, Iida A, et al. An aspartic acid repeat polymorphism in ASPN inhibits chondrogenesis and increases susceptibility to osteoarthritis. Nat Genet. 2005;37(2):138-144.
Jiang Q, Shi D, Yi L, et al. Replication of the association of the aspartic acid repeat polymorphism in the ASPN gene with knee-osteoarthritis susceptibility in Han Chinese. J Hum Genet. 2006;51:1068.
Kaliakatsos M, Tzetis M, Kanavakis E, et al. ASPN and knee osteoarthritis in patients of Greek origin. Osteoarthritis Cartilage. 2006;14(6):609-611.
Jazayeri R, Qoreishi M, Hoseinzadeh HR, et al. Investigation of the ASPN gene polymorphism as a risk factor for knee osteoarthritis in Iran. Am J Orthop. 2013;42(7):313-316.
Mustafa Z, Dowling B, Chapman K, Sinsheimer JS, Carr A, Loughlin J. Investigating the aspartic acid (D) repeat of ASPN as a risk factor for osteoarthritis in a UK Caucasian population. Arthritis Rheum. 2005;52(11):3502-3506.
Yaku H, Yukimasa T, Nakano S, Sugimoto N, Oka H. Design of allele-specific primers and detection of the human ABO genotyping to avoid the pseudopositive problem. Electrophoresis. 2008;29(20):4130-4140.
Liu J, Huang S, Sun M, et al. An improved allele-specific PCR primer design method for SNP marker analysis and its application. Plant Methods. 2012;8(1):34.
Tawonsawatruk T, Changthong T, Pingsuthiwong S, Trachoo O, Sura T, Wajanavisit W. A genetic association study between growth differentiation factor 5 (GDF 5) polymorphism and knee osteoarthritis in Thai population. J Orthop Surg Res. 2011;6(1):47.
Xu L, Li Z, Liu SY, Xu SY, Ni GX. ASPN and osteoarthritis. Osteoarthritis Cartilage. 2015;23(6):933-939.
Gruber HE, Ingram JA, Hoelscher GL, Zinchenko N, Hanley EN Jr, Sun Y. ASPN, a susceptibility gene in osteoarthritis, is expressed at higher levels in the more degenerate human intervertebral disc. Arthritis Res Ther. 2009;11(2):R47.
Song YQ, Cheung KM, Ho DW, et al. Association of the ASPN D14 allele with lumbar-disc degeneration in Asians. Am J Hum Genet. 2008;82(3):744-747.
Wang H, Zhang X, Wu W, Zhang M, Sam NB, Niu L. Association between the aspartic acid D-repeat polymorphisms and osteoarthritis susceptibility: an updated systematic review and meta-analyses. Medicine. 2018;97(45):e13163.
Gonzalez-Huerta NC, Borgonio-Cuadra VM, Zenteno JC, Cortes-Gonzalez S, Duarte-Salazar C, Miranda-Duarte A. D14 repeat polymorphism of the ASPN gene is associated with primary osteoarthritis of the knee in a Mexican Mestizo population. Int J Rheum Dis. 2017;20(12):1935-1941.
Masuya H, Nishida K, Furuichi T, et al. A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice. Hum Mol Genet. 2007;16(19):2366-2375.
Daans M, Luyten FP, Lories RJ. GDF5 deficiency in mice is associated with instability-driven joint damage, gait and subchondral bone changes. Ann Rheum Dis. 2011;70(1):208-213.
Jiang D, Hao Z, Fan D, et al. Association between GDF5 +104T/C polymorphism and knee osteoarthritis in Caucasian and Asian populations: a meta-analysis based on case-control studies. J Orthop Surg Res. 2016;11(1):104.