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Melanocortin-4 receptor (MC4R) gene allelic variants and its impact on obese phenotype expression

Abstract:

Obesity is a public health problem worldwide, due to its association with other morbidities such as diabetes, hypertension and cardiovascular disease. It is estimated that approximately 65% -80% of the phenotypic variation in obesity is due to genetic variation between individuals. MC4R is one of the genes for which the largest number of mutations and polymorphisms have been reported to date in obese individuals. These include: stop codons of translation, substitutions at amino terminal transmembrane domains and a variety of polymorphisms that affect the structure and function of the receptor. The association of MC4R gene allelic variants with increased body mass index by changes in eating and energy expenditure patterns has been replicated in several studies. Therefore the melanocortin receptor gene is a strong candidate which could be incorporated in protocols for assessing obesity phenotype risk factors.