Evaluation and identification of damaged single nucleotide polymorphisms in COL1A1 gene involved in osteoporosis.

ABSTRACT:

Introduction

Single-nucleotide polymorphisms (SNPs) are biomarkers for exploring the genetic basis of many complex human diseases. The prediction of SNPs is promising in modern genetic analysis but it is still a great challenge to identify the functional SNPs in a disease-related gene. The computational approach has overcome this challenge and an increase in the successful rate of genetic association studies and reduced cost of genotyping have been achieved. The objective of this study is to identify deleterious non-synonymous SNPs (nsSNPs) associated with the COL1A1 gene.

Material and methods

The SNPs were retrieved from the Single Nucleotide Polymorphism Database (dbSNP). Using I-Mutant, protein stability change was calculated. The potentially functional nsSNPs and their e

SUBMITTER: Masoodi TA 

PROVIDER: S-EPMC3832808 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature