Ukkola et al. (2001) found this mutation, a nucleotide 408C-A transversion resulting in a leu72-to-met (L72M) amino acid change, in 15 obese (601665) (12 heter- and 3 homozygotes) and 12 control subjects. Among the obese carriers, 12 were heterozygous and 3 homozygous for the substitution; among the control carriers, all were heterozygotes. This mutation is outside the coding region for mature ghrelin. The age at onset of self-reported weight problems tended to be lower among carrier obese subjects than among those without the polymorphism.
Korbonits et al. (2002) found this SNP (rs696217), which they referred to as SNP247, in heterozygosity in 14 subjects. They noted that children carrying this polymorphism had a significantly higher Z BMI compared to those carrying only the wildtype allele, and that the age at onset of obesity for those carrying this SNP was slightly earlier (median SNP247 group 2.0 years, wildtype group 3.5 years; P = 0.036).
Hinney et al. (2002) identified this variant in both extremely obese children and adolescents and normal-weight students.
In a study examining the relationship between GHRL variants and eating behavior and risk for metabolic syndrome (see 605552), obesity, diabetes, and related traits involving 856 Amish participants, Steinle et al. (2005) found that the L72M variant was associated with increased prevalence of metabolic syndrome (23.2 vs 13.4%; age- and sex-adjusted odds ratio = 2.57; P = 0.02) as well as higher fasting glucose, lower high density lipoprotein, and higher triglyceride levels (P = 0.02, P = 0.007, and P = 0.04, respectively).
