The -839(A/C) Polymorphism in the ECE1 Isoform b Promoter Associates With Osteoporosis and Fractures.

ABSTRACT:

Context

We previously found that variation in a quantitative trait locus, including the gene-encoding endothelin-converting enzyme 1 (Ece1), accounted for 40% of the variance in bone biomechanics and bone mineral density (BMD) in an intercross of recombinant congenic mouse strains.

Objective

We hypothesized that single nucleotide polymorphisms (SNPs) within the human ECE1 isoform b promoters, at ECE1 b -338(G/T) and ECE1 b -839(A/C), would associate with osteoporosis in postmenopausal women.

Design

We genotyped DNA for the ECE1 -338(G/T) and -839(A/C) SNPs.

Setting

A community medical center.

Participants

Postmenopausal women (3564) with ≥1 dual-energy X-ray absorptiometry scan ≥60 years of age.

Main outcome measures

SUBMITTER: Hansen KE 

PROVIDER: S-EPMC6795020 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature