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// Binlong Zhong 1, * , Donghua Huang 1, * , Kaige Ma 1 , Xiangyu Deng 1 , Deyao Shi 1 , Fashuai Wu 1 and Zengwu Shao 1 1 Department of Orthopaedic Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, People’s Republic of China * These authors contributed equally to this study and share first authorship Correspondence to: Zengwu Shao, email: szwpro@163.com Keywords: COL1A1 polymorphism, rs1800012, musculoskeletal degenerative diseases, osteoarthritis, intervertebral disc degeneration Received: June 27, 2017 Accepted: August 23, 2017 Published: September 08, 2017 ABSTRACT It has been reported that the single nucleotide polymorphism (SNP) rs1800012 in COL1A1 gene might be linked to the susceptibility of musculoskeletal degenerative diseases, such as osteoarthritis (OA) and intervertebral disc degeneration (IVDD). However, the data from different studies is contradictory. Here we aimed to comprehensively summarize and clarify the relationship between the SNP and musculoskeletal degenerative diseases. Seven eligible studies including 1339 cases and 5406 controls were screened out from PubMed, Web Of Science and Cochrane library databases. Significant association was identified in sub group analysis of IVDD in homozygote model (GG versus TT: OR = 0.33, 95% CI 0.14–0.78, P = 0.012), heterozygote model (GT versus TT: OR = 0.29, 95% CI 0.11–0.72, P = 0.008) and dominant model (GG/GT versus TT: OR = 0.31, 95% CI 0.13–0.74, P = 0.008). Additionally, significant relationship was also found in sub group analysis of severe degree of IVDD in homozygote model (GG versus TT: OR = 0.37, 95% CI 0.15–0.91, P = 0.031), heterozygote model (GT versus TT: OR = 0.33, 95% CI 0.13–0.87, P = 0.024) and dominant model (GG/GT versus TT: OR = 0.36, 95% CI 0.14–0.88, P = 0.025). Although no significance was observed, there is a trend that the more G allele at COL1A1 rs1800012 site, the less possibility of IVDD and severe IVDD would happen. Our results indicate that COL1A1 rs1800012 polymorphism associates with the susceptibility of IVDD. However, this polymorphism may not be associated with OA risk.

// Chunguang Wang 1 , Hao Li 1 , Kang Chen 1 , Bing Wu 1 and Haifeng Liu 1 1 Department of Sports Medical, The First Affiliated Hospital of Shenzhen University, Shenzhen Second People’s Hospital, Futian District, Shenzhen, Guangdong, China Correspondence to: Haifeng Liu, email: // Keywords : COL1A1 polymorphism, rs1800012, sports injury, tendon and ligament injury, ACL injury Received : July 14, 2016 Accepted : January 26, 2017 Published : February 11, 2017 Abstract It has been reported that the single nucleotide polymorphism (SNP) rs1800012 in COL1A1 might be associated with the susceptibility to sports-related tendon and ligament injuries such as ACL injuries, Achilles tendon injuries, shoulder dislocations and tennis elbow. But the data from different studies have been conflicting. Here we attempted to systematically summarize and clarify the association between the SNP and sports-related tendon and ligament injuries risk. Six eligible studies including 933 cases and 1,381 controls were acquired from PubMed, Web Of Science and Cochrane library databases. Significant association was identified in homozygote model (TT versus GG: OR=0.17, 95%CI 0.08-0.35, P H =0.00) and recessive model (TT versus GT/GG: OR=0.21, 95%CI 0.10-0.44, P H =0.00). Our results indicated that COL1A1 rs1800012 polymorphism may be associated with the reduced risk of sports-related tendon or ligament injuries, especially in ACL injuries, and that rare TT may played as a protective role.

Introduction Polymorphism in the promoter region of collagen type 1α (COL1A1) +1245G/T (Sp1, rs1800012) was in some studies shown to be relevant for bone mineral density (BMD) and low-energy fracture prediction. The aim of the study was to confirm this finding in a group of postmenopausal women diagnosed with osteoporosis. Material and methods We investigated 311 Caucasian women (mean age: 65.2 ±9.39 years) either after low-energy fractures (regardless of the location) or meeting World Health Organization (WHO) criteria for osteoporosis. All patients underwent clinical examination in order to exclude secondary osteoporosis; hip and lumbar spine DEXA was performed (Lunar). The three genotypes of Sp1 polymorphism were determined by RFLP (restriction fragment length polymorphism). Results Distribution of COL1A1 genotypes (SS/Ss/ss) agreed with Hardy-Weinberg equilibrium. No relation between COL1A1 genotypes and hip/L1-L4 BMD was found. Fractures were reported in 26.3% of women. Prevalence of low-energy fractures, regardless of the type, was 50.0% in ss genotype carriers, 26.4% in SS homozygotes and 23.7% in Ss heterozygotes. There was no statistically significant recessive or dominant effect of any Sp1 genotype on fracture prevalence (p = 0.613). Conclusions We failed to observe that COL1A1 Sp 1 genotypes contribute to BMD determination or are associated with prevalent low-energy fractures in a Polish cohort of postmenopausal osteoporotic women.

Серед механізмів патогенезу міопії важливе місце займають процеси, пов’язані з генетичними змінами структури і функції колагену. Колагенові волокна є найбільш численною складовою склери, на які припадає до 90 % сухої ваги фіброзної оболонки. При міопічному ремоделюванні склери експресія колагену, особливо колагену I типу, значно знижується. Частота алелей і розподіл генотипів за поліморфними варіантами rs1107946 гена COL1A1 серед досліджених дітей Подільського регіону України не відрізняються від середньоєвропейських значень цих показників. Частота варіантної алелі у дітей-міопів і дітей з еметропією становила 0,13 і 0,12 відповідно. Не виявлено вірогідної різниці в розподілі генотипів і частоті алельних варіантів rs1107946 гена COL1A1 між дослідженими групами. Для дітей Подільського регіону України поліморфізм rs1107946 гена COL1A1 не асоціюється з ризиком розвитку міопії., Среди механизмов патогенеза миопии важное место занимают процессы, связанные с генетическими изменениями структуры и функции коллагена. Коллагеновые волокна являются наиболее многочисленной составной склеры, на которые приходится до 90 % сухого веса фиброзной оболочки. При миопическом ремоделировании склеры экспрессия коллагена, особенно коллагена I типа, значительно снижается. Частота аллелей и распределение генотипов с полиморфными вариантами rs1107946 гена COL1A1 среди исследованных детей Подольского региона Украины не отличается от среднеевропейских значений этих показателей. Частота вариантной аллели у детей-миопов и детей с эмметропией составляла 0,13 и 0,12 соответственно. Не выявлено достоверной разницы в распределении генотипов и частоте аллельных вариантов rs1107946 гена COL1A1 между исследованными группами. Для детей Подольского региона Украины полиморфизм rs1107946 гена COL1A1 не ассоциируется с риском развития миопии., Background. Among the pathogenetic mechanisms of myopia, genetic changes in the structure and function of collagen play an important role. Collagen fibers are the most numerous component of sclera, which accounts for up to 90 % of the dry weight of the fibrous membrane. During myopic remodeling of sclera, the expression of collagen, especially collagen type I, is significantly reduced. The purpose of the research is to study the association of rs1107946 polymorphism of COL1A1 gene with the development of myopia among children of Podilia region of Ukraine. Mate­rials and methods. The genotyping of rs1107946 polymorphism of COL1A1 gene was performed in 103 children with myopia aged 4 to 18 years and 51 children with emmetropia (control group) aged 4 to 13 years using real-time polymerase chain reaction. Results. The frequency of alleles and the distribution of genotypes by the polymorphic variants of rs1107946 of COL1A1 gene among the stu­died children of the Podilia region of Ukraine do not differ from the ave­rage European rates of these indices. The frequency of variable allele among children with myopia and children with emmetropia was 0.13 and 0.12, respectively. There was no significant difference in the distribution of genotypes and frequency of allelic variants of rs1107946 of COL1A1 gene between the studied groups. Conclusions. Rs1107946 polymorphism of COL1A1 gene is not associated with the risk of myopia in children of Podilia region of Ukraine.