Association of an intronic SNP of the EFEMP1 gene with height in Tongans

A common single nucleotide polymorphism (SNP) located in intron 4 of the EFEMP1 gene, rs3791675, has been reported to be associated with human height in European and Asian populations. The objective of this study is to examine the possible association of rs3791675-G with taller height in Oceanian populations. The rs3791675 SNP was genotyped for 636 adult subjects living in Tonga (Tonga population) and Solomon Islands (Munda, Kusaghe, and Rawaki populations). The allele frequency of rs3791675-G ranged from 0.29 to 0.66. A multiple regression analysis adjusted for age and sex was performed to test the association of rs3791675 with height in each population. The results revealed that a single copy of the rs3791675-G allele significantly increased height by 1.2 cm in Tonga population (P-value = 0.031), while no significant association was detected in Munda, Kusaghe, and Rawaki populations. Since the partial regression coefficients of rs3791675-G estimated in regression models were positive in all the populations, the lack of association in the Solomon Islanders may have come from small effect size of rs3791675-G in them as well as small sample size. To confirm the present finding, replication studies in other Oceanian populations are required.