Yasmin Badshah1, Maria Shabbir2, Hunza Hayat2, Zoha Fatima2, Asad Burki3, Sidra Khan4, Shafiq Ur Rehman5. 1. Atta-ur-Rahman School of Applied Biosciences (ASAB), National University of Sciences and Technology (NUST), Islamabad, 44000, Pakistan. yasmeenb_1982@yahoo.com. 2. Atta-ur-Rahman School of Applied Biosciences (ASAB), National University of Sciences and Technology (NUST), Islamabad, 44000, Pakistan. 3. Type D hospital, LORA, Abbottabad, Khyber Pakhtunkhwa, Pakistan. 4. Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Punjab, Pakistan. 5. Bahria University Dental Hospital Karachi, Karachi, Pakistan.
Abstract
BACKGROUND AND AIM: Osteoarthritis (OA) is a multiple factorial disease with unidentified specific markers. The alternate method such as biochemical and genetic markers for the diagnosis of osteoarthritis is an undeniable need of the current era. In the present study, we aimed to investigate the association of interleukin-6 (IL-6)(IL-6-174G/C), transforming growth factor-β1 (TGF-beta1-29C/T), and calmodulin 1 gene-16C/T (CALM1-16C/T) polymorphism in clinically definite Pakistani OA patients and matching controls. METHODS: The study design was based on biochemical analysis of OA via serum hyaluronic acid (HA) enzyme-linked immunosorbent assay (ELISA) test and genetic analysis based on amplification refractory mutation system (ARMS) PCR. Statistical evaluations of allele probabilities were carried through chi-squared test. This study includes 295 subjects including 100 OA patients, 105 OA susceptible, and 90 controls. RESULTS: HA levels obtained were distinct for all the populations: patients with a mean value of ± 5.15, susceptible with mean value of ± 2.27, and control with mean value of ± 0.50. The prevalent genotypes in OA were GG genotype for IL-6-174G/C, CT genotypes for TGF β1-29C/T, and TT genotype for CALM1-16C/T polymorphism. A significant P value of 0.0152 is obtained as a result of the comparison among the patients and controls on the number of individuals possessing the disease-associated genotypes. CONCLUSIONS: The positive association of GG genotype for IL-6-174G/C, TT genotype for CALM1-16C/T polymorphism in OA while high prevalence of CT TGF β1-29 C/T genotypes in susceptible population in our study group implies these polymorphisms can serve as susceptible marker to OA and genetic factors for screening OA patients in Pakistan. There might be other factors that may influence disease susceptibility. However, further investigations on larger population are required to determine the consequences of genetic variations for prediagnosis of OA.
BACKGROUND AND AIM: Osteoarthritis (OA) is a multiple factorial disease with unidentified specific markers. The alternate method such as biochemical and genetic markers for the diagnosis of osteoarthritis is an undeniable need of the current era. In the present study, we aimed to investigate the association of interleukin-6 (IL-6)(IL-6-174G/C), transforming growth factor-β1 (TGF-beta1-29C/T), and calmodulin 1 gene-16C/T (CALM1-16C/T) polymorphism in clinically definite Pakistani OA patients and matching controls. METHODS: The study design was based on biochemical analysis of OA via serum hyaluronic acid (HA) enzyme-linked immunosorbent assay (ELISA) test and genetic analysis based on amplification refractory mutation system (ARMS) PCR. Statistical evaluations of allele probabilities were carried through chi-squared test. This study includes 295 subjects including 100 OA patients, 105 OA susceptible, and 90 controls. RESULTS:HA levels obtained were distinct for all the populations: patients with a mean value of ± 5.15, susceptible with mean value of ± 2.27, and control with mean value of ± 0.50. The prevalent genotypes in OA were GG genotype for IL-6-174G/C, CT genotypes for TGF β1-29C/T, and TT genotype for CALM1-16C/T polymorphism. A significant P value of 0.0152 is obtained as a result of the comparison among the patients and controls on the number of individuals possessing the disease-associated genotypes. CONCLUSIONS: The positive association of GG genotype for IL-6-174G/C, TT genotype for CALM1-16C/T polymorphism in OA while high prevalence of CT TGF β1-29 C/T genotypes in susceptible population in our study group implies these polymorphisms can serve as susceptible marker to OA and genetic factors for screening OA patients in Pakistan. There might be other factors that may influence disease susceptibility. However, further investigations on larger population are required to determine the consequences of genetic variations for prediagnosis of OA.
Authors: R Inoue; Y Ishibashi; E Tsuda; Y Yamamoto; M Matsuzaka; I Takahashi; K Danjo; T Umeda; S Nakaji; S Toh Journal: Osteoarthritis Cartilage Date: 2010-10-31 Impact factor: 6.576
Authors: Jasvinder A Singh; Kenneth G Saag; S Louis Bridges; Elie A Akl; Raveendhara R Bannuru; Matthew C Sullivan; Elizaveta Vaysbrot; Christine McNaughton; Mikala Osani; Robert H Shmerling; Jeffrey R Curtis; Daniel E Furst; Deborah Parks; Arthur Kavanaugh; James O'Dell; Charles King; Amye Leong; Eric L Matteson; John T Schousboe; Barbara Drevlow; Seth Ginsberg; James Grober; E William St Clair; Elizabeth Tindall; Amy S Miller; Timothy McAlindon Journal: Arthritis Rheumatol Date: 2015-11-06 Impact factor: 10.995
Authors: Peter Tzakas; Betty Y L Wong; Alexander G Logan; Laurence A Rubin; David E C Cole Journal: BMC Musculoskelet Disord Date: 2005-06-14 Impact factor: 2.362