SNP rs1137101 Leptin Receptor Gene LEPR as a Risk Factor for Type 2 Diabetes

Intisar Hussein Ahmed, Zafir Hassan Ghali


Mutations of leptin gene resulting in leptin deficiency cause obesity, insulin  resistance, and diabetes in animals  and, in few cases, morbid obesity and hyperinsulinemia in humans.The distribution of single nucleotide polymorphism of the leptin receptor gene "LEPR rs1137101( (Q223R)"  in the Slavonic population (Ukrainian and Russian) from Kharkov and Poltava was investigated. Identification of "single nucleotide polymorphisms "C/G LEPR leptin receptor gene"  was performed using "polymerase chain reaction – restriction fragment length polymorphism (PCR-RFLP)" .In control group, the major allele in the studied population is Q, its frequency pQ=0.57.The difference is non-significant when comparing men (0.59) to women (0.56). There is high percent of homozygotes QQ in men than women. In diabetic group the major allele is R with a frequency = 0.59 with significant difference when comparing men 0.56 to women 0.63.There is a high percent of the genotype RR in women than men. The RR genotype increases the probability of contracting type 2 diabetes mellitus (Relative risk( RR) = 1.44) whereas QQ genotype decreases this probability (RR = 0.45)..In conclusion, rs1137101 (Q223R) polymorphism of the LEPR gene is associated with susceptibility to type -2 diabetes. This polymorphism may represent genetic marker for the risk of type -2 diabetes.


leptin receptor gene LEPR; single nucleotide polymorphism; structure of Ukrainian population.

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