A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene and bone mineral density in Japanese male workers

Funakoshi, Yayoi; Omori, Hisamitsu; Yada, Hironori; Katoh, Takahiko

doi:10.1007/s12199-010-0172-z

Cited by 7 publications

(7 citation statements)

References 34 publications

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“…Additionally, we observed higher levels of TC and HDL‐c levels among individuals with the LRP5‐rs682429 AA or LRP5‐rs312016 GG polymorphisms. A significant association between the LRP5‐rs3736228 and LRP5‐A1330V polymorphisms and hypercholesterolemia has previously been observed. Although the loci we selected were different from those in the above two studies, our results were consistent with their findings, further suggesting that the LRP5 polymorphism is significantly associated with cholesterol levels.…”

Section: Discussionmentioning

confidence: 84%

“…Furthermore, LRP5 is also a co-receptor of Wnt/b-catenin signaling (28), a mechanism that might be involved in the development of periodontitis (29). LRP5 polymorphisms have been associated with cholesterol level (30), bone mineral density (31), osteoporosis (32), diabetes mellitus (33), obesity (34), bone fracture (35), Alzheimer's disease (36) and tumors (28,37,38). As a result of the established relationship between periodontitis and osteoporosis, diabetes mellitus and obesity (15,38), we suspect that LRP5 polymorphisms might also be associated with periodontitis.…”

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confidence: 99%

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Associations of apolipoprotein E and low‐density lipoprotein receptor‐related protein 5 polymorphisms with dyslipidemia and generalized aggressive periodontitis in a Chinese population

Gao

Tian

Meng

et al. 2014

J of Periodontal Research

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Independently or combined with APOE, LRP5 polymorphisms may lead to dyslipidemia and are associated with generalized aggressive periodontitis. Dyslipidemia may be a risk indicator for generalized aggressive periodontitis in the Chinese population. Furthermore, two LRP5 polymorphisms (rs682429 and rs312016) might be useful for identifying subjects at higher risk of generalized aggressive periodontitis.

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Section: Discussionmentioning

confidence: 84%

mentioning

confidence: 99%

Associations of apolipoprotein E and low‐density lipoprotein receptor‐related protein 5 polymorphisms with dyslipidemia and generalized aggressive periodontitis in a Chinese population

Gao

Tian

Meng

et al. 2014

J of Periodontal Research

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“…The previous study showed that rs3736228 in the LRP5 gene was strongly associated with the BMD[42]. Through the eQTL analysis, the SNP rs3736228 may serve as a cis-effect regulator of genes CPT1A and MTL5 [19].…”

Section: Discussionmentioning

confidence: 99%

Functional relevance for associations between osteoporosis and genetic variants

et al. 2017

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Osteoporosis is characterized by increased bone loss and deterioration of bone microarchitecture, which will lead to reduced bone strength and increased risk of fragility fractures. Previous studies have identified many genetic loci associated with osteoporosis, but functional mechanisms underlying the associations have rarely been explored. In order to explore the potential molecular functional mechanisms underlying the associations for osteoporosis, we performed integrative analyses by using the publically available datasets and resources. We searched 128 identified osteoporosis associated SNPs (P<10−6), and 8 SNPs exert cis-regulation effects on 11 eQTL target genes. Among the 8 SNPs, 2 SNPs (RPL31 rs2278729 and LRP5 rs3736228) were confirmed to impact the expression of 3 genes (RPL31, CPT1A and MTL5) that were differentially expressed between human subjects of high BMD group and low BMD group. All of the functional evidence suggested the important functional mechanisms underlying the associations of the 2 SNPs (rs2278729 and rs3736228) and 3 genes (RPL31, CPT1A and MTL5) with osteoporosis. This study may provide novel insights into the functional mechanisms underlying the osteoporosis associated genetic variants, which will help us to comprehend the potential mechanisms underlying the genetic association for osteoporosis.

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“…In the LRP5 gene, a C→T transition at rs3736228 results in a substitution of Val for Ala, and this transition significantly decreases the response to canonical Wnt signaling ( 23 ). Published data have identified that polymorphisms of rs3736228 are associated with a decrease in bone mineral density in postmenopausal Maya-mestizo females ( 24 ), Mexican females ( 25 ), healthy fertile French females ( 26 ), Japanese male workers ( 27 ), Chinese patients ( 28 ), and Chinese patients with osteoporosis ( 29 , 30 ). However, to date, there are no studies describing an association between rs3736228 polymorphisms and lung cancer.…”

Section: Discussionmentioning

confidence: 99%

Two novel susceptibility loci for non-small cell lung cancer map to low-density lipoprotein receptor-related protein 5

et al. 2016

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This study investigated the effect of single-nucleotide polymorphisms (SNPs) of low-density lipoprotein receptor-related protein 5 (LRP5) on the risk of developing non-small cell lung cancer (NSCLC). A total of 500 NSCLC patients and 500 healthy controls were recruited for genotyping of 11 SNPs of LRP5. The association between genotype and NSCLC risk was evaluated by computing the odds ratio (OR) and 95% confidence interval (CI) from multivariate unconditional logistic regression analyses. Eleven Tag SNPs were detected. The frequency of the LRP5 rs3736228 T allele (18.9% in male NSCLC cases and 23.9% in male controls) was statistically different between male NSCLCs and male controls (P=0.03), and the T allele was associated with a lower risk of NSCLC (OR=0.74; 95% CI, 0.56–0.67), whereas the C/C homozygous genotype and the LRP5 rs64843 T/T genotype were associated with an increased risk of NSCLC and squamous cell carcinoma (SCC), respectively (OR=1.43 and 1.77, respectively). Using Haploview software, the frequency of the haplotypes of rs312009/rs3120015/rs3120014 CCC was was significantly higher in female SCC cases compared with female controls (0.064 vs. 0.009, P=0.04). LRP5 rs3736228 and rs64843 SNPs were significantly associated with an increased risk of NSCLC and SCC, respectively. Further studies are required to investigate the functional changes in LRP5 expression and activity in NSCLC in vitro.

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A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene and bone mineral density in Japanese male workers

Abstract: These findings suggest that LRP5 A1330V polymorphism and exercise may influence BMD in Japanese male workers.

Cited by 7 publications

References 34 publications

Associations of apolipoprotein E and low‐density lipoprotein receptor‐related protein 5 polymorphisms with dyslipidemia and generalized aggressive periodontitis in a Chinese population

Associations of apolipoprotein E and low‐density lipoprotein receptor‐related protein 5 polymorphisms with dyslipidemia and generalized aggressive periodontitis in a Chinese population

Functional relevance for associations between osteoporosis and genetic variants

Two novel susceptibility loci for non-small cell lung cancer map to low-density lipoprotein receptor-related protein 5

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