Extremely High Frequency of rs2231137 (C>T) of ABCG2 Gene Among Highland Papuans

Abstract

Background : rs2231137 is a SNP of ABCG2 gene that changes the amino acid number 12 of the encoded protein from valine to methionine (V12M). The mutation however does not affect functional activity of the protein. This gives opportunity to study human population genetic structure using rs2231137 as a neutral SNP marker carried out by a medically important gene. We studied to understand population structure of 23 ethnic groups of Western Papuans living in lowland and highland areas using rs2231137. Methods : this study was aim to investigate and compare SNP rs2231137 structure in ethnic groups, we obtained 78 participants from Lowland Papuan and 65 participants from Highland Papuan students. TagMan SNP genotyping was applied to used to study 78 participants from lowland areas and 65 participants from highland areas. We also collects anthropometrics and clinical data. Statistical analysis for comparison and correlation were performed using SPSS 16.0. Results : Genotypes and alleles distribution in both group is significantly incompatible with HWE law (P <0.00). We found that the T allele frequency was extremely high among highland papuans, reaching to 92%. In the lowland papuans the frequency is decreased into 65%. Association studies shows that homozygous TT Papuan Lowland is strongly correlated with SBP (P=0.013), DBP (P=0,001) and CC with SBP (P=0.006) , whereas in Papuan Highland homozygous CC is strongly correlated to SBP (P = 0.010), DBP (P = 0.021) and total body fat (p= 0.039). Conclusions: The T allele is dominant allele among Papuan and almost pure among highland.