TIMP2 Polymorphisms Association With Curve Initiation and Progression of Thoracic Idiopathic Scoliosis in the Caucasian Females

Abstract

Idiopathic scoliosis (IS) etiology remains unclear, but strong genetic background is suggested. Previously reported TIMP2 study indicates an association of genic rs8179090 with IS progression in a Han Chinese population. However, there has been a lack of investigation into intragenic TIMP2 polymorphisms in IS patients. We recruited 100 Caucasian females with IS and 100 controls. Patients were subdivided accordingly to: progression rate, curve severity, joint mobility, and curve pattern. Allele‐specific‐polymerase chain reaction based on fluorescence resonance energy transfer was applied to evaluate nine TIMP2 polymorphisms. Distribution of genotype and allele frequency in only one polymorphism (rs11658743) differed in case–control study. Four of the polymorphisms (rs2277700, rs11077401, rs2376999, and rs4789934) showed non‐equal distributions either in genotype or/and allele distributions in the patients of different progression rates. The rs11077401 was related to curve severity patients distinction and the rs8179090 distinguished patients with different joint mobility level. Two polymorphisms either differed statistically in case of curve patterns subgrouping (rs8068674 and rs8179090) or showed a slight tendency toward significance in the recessive model of allele distributions (rs9916809 and rs8179090). The remaining two polymorphisms (rs2377005, rs11658743) showed no association with either clinical or radiographic IS characteristics. The influence of the G allele of the rs8179090 on the clinical course of IS has not yet been confirmed. We identified four TIMP2 polymorphisms (rs11077401, rs2376999, rs2277700, and rs4789934) that were associated with a higher risk of the progressive IS form. Further genetic association studies based on suggested clinical criteria would be necessary to validate TIMP2 polymorphisms associated with the curve progression. © 2019 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 37:2217–2225, 2019

Epigenetic and Genetic Factors Related to Curve Progression in Adolescent Idiopathic Scoliosis: A Systematic Scoping Review of the Current Literature

“…According to the research performed, a total of 40 papers [ 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 ] met the inclusion criteria and were considered for review. Of these studies, twenty-one [ 18 , 19 , 21 , 24 , 31 , 33 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 44 , 45 ,…”

“…According to the Oxford level of evidence scale, ten [ 16 , 17 , 27 , 28 , 29 , 32 , 46 , 48 , 49 , 53 ] of the included studies had a level of evidence IV, twenty-six [ 18 , 19 , 20 , 21 , 23 , 24 , 26 , 31 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 44 , 45 , 47 , 50 , 51 , 52 , 54 , 55 ] studies had a level of evidence III, while the remaining studies had a level of evidence II [ 22 , 25 , 30 , 43 ].…”

“…The median age at the first visit ranged from 12.2 ± 1.2 to 18.5 ± 1.8 years and the median follow-up ranged from 12 months to 42 months. Asiatic populations (Chinese, Japanese, and Korean) [ 9 , 16 , 17 , 20 , 21 , 23 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 42 , 43 , 44 , 45 , 47 , 51 , 53 , 54 , 55 , 56 ] were the most studied by authors, but Caucasian populations (Europeans, Polish, and French-Canadian) [ 24 , 25 , 26 , 27 , 41 , 43 , 46 , 48 , 49 , 52 ], Russian [ 19 ], and Turkish [ 18 ] populations were also evaluated for possible associations. Two studies did not accurately describe the population demographics [ 30 , 43 ].…”

“…In other studies [ 23 , 33 , 34 , 37 , 38 , 41 , 49 , 54 , 55 ], the diagnosis was generic or without accurate subtype distribution (i.e., thoracic, or thoracolumbar curve) or not reported [ 18 , 20 , 21 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 35 , 36 , 43 , 44 , 45 , 46 , 48 , 52 , 56 ].…”

Association of NLRP3 and CARD8 Inflammasome Polymorphisms With Aseptic Loosening After Primary Total Hip Arthroplasty

“…While problems with abrasive wear of implanted hip arthroplasty materials and treatment of infections have been adequately addressed, the etiology of the non‐mechanical non‐infectious aseptic loosening of hip endoprostheses has not been established yet . The time period from implantation to aseptic loosening varies significantly between different patients with identical implants, and recent studies in this field have focused attention to possible differences in genetic host factors and polymorphisms with variability in the immune response to exogenous materials and a different response of individuals’ host tissues to external mechanical stimuli …”