All Microbiology Techniques
All microbiology techniques
Immuno- diffusion test
Address: House No. 7, Iqbal Abad, Buchpora, Srinagar, Jammu & Kashmir - 190020
Languages Known: English, Hindi, Urdu, Kashmiri.
Association of Leptin receptor (LEPR) gene polymorphism “Glu223Arg” with SLE- A case control study
Systemic lupus Erythematosus (SLE) is an autoimmune disease characterized by widespread inflammation with possible involvement of any organ and system. There is a high incidence of the disease and poor prognosis, and it is incurable until now. SLE is predominantly a disease of women. Leptin plays an essential role in the regulation of body weight, neuroendocrine function, reproduction, and the immune response. Leptin is assumed to promote inflammation and immunity and is presumed to influence the development of rheumatoid arthritis and autoimmune disease in humans by destroying the balance of T lymphocytes. Leptin functions by binding to its cognate Leptin receptor (LEPR). We screened the Q223R (A↔G) polymorphism of Leptin receptor (LEPR) gene in Systemic Lupus Erythematosus patients and healthy controls belonging to ethnic Kashmiri population. The Q223R alleles and genotypes were determined by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). An association of LEPR gene polymorphism Q223R with Systemic Lupus Erythematosus was observed. The genotypes of Q223R polymorphism were in Hardy-Weinberg equilibrium (χ2= 2.07, P=NS). Homozygous wild allele (AA) was present in 31% of controls and 18% of cases. 58% of cases and 52% of controls carried the heterozygous (AG) genotype respectively. The homozygous variant (GG) genotype was present in 24% of cases and 17% of controls respectively. AG genotype did not differ statistically among cases and controls with respect to the wild AA reference allele (P= 0.06) whereas a significant association was observed in GG genotype (P=0.03). Frequency of A allele was observed to be 0.57 and 0.47 in controls and cases respectively and G allele frequency was 0.43 in controls and 0.53 in cases respectively. This elucidates a protective effect conferred by the wild allele. This correlation indicates the positive association between the carriers of variant genotype (GG) and SLE. Subjects with GG genotype had an early onset of disease than AG and AA genotypes. A significant association was observed in arthritis (P=0.0003), alopecia, (P=0.04) lymphadenopathy, cardiac disorder (P=0.02) and haemolytic anaemia (P=0.03). These findings suggest that the variant genotypes of Q223R polymorphism in LEPR gene play a role in the predisposition, severity and progression of SLE in ethnic Kashmiri population.
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H.N.B. Garhwal University
H.N.B. Garhwal University
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