Lack of Association of a Single Nucleotide Polymorphism （rs1053874）in the DNase I Gene With Plural Tissue Weight

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Background: We have found the association of single nucleotide polymorphism （SNP） rs6180 in the growth
hormone receptor （GHR） gene with plural tissue weight. On the other hand, the DNase I gene（ DNASE1） is considered to be one of the susceptibility genes for liver disease, gastric and colorectal carcinoma, and myocardial infarction, based on the polymorphic study of rs1053874. Therefore, we investigated the association of rs1053874 in DNASE1 with plural tissue weight in the present study.
Materials and methods: Blood samples （n = 198; 99 female and 99 male） were collected from Japanese subjects autopsied in Shimane Prefecture, and genomic DNA was extracted. SNP （rs1053874, A > G substitution） was analyzed using a polymerase chain reaction, followed by a mismatched-restriction fragment length polymorphism analysis.
Results: Except for the pancreatic weight and appendix, all parameters were significantly related to gender. All parameters were significantly related to age except for the left and right renal weight. In the present study, we focused on analyzing the potential effect of a variation in DNASE1 and investigated the effect of SNP rs1053874 on human organ weight using autopsied samples.
Conclusions: In the present study, the rs1053874 polymorphism does not contribute to organ weight, cardiac hypertrophy index, or body surface areas, and these associations were not observed in Japanese subjects. This study is the first to investigate the association of SNP rs1053874 （A > G substitution） in DNASE1 and data routinely measured at autopsy, such as organ weight.