Vitamin D receptor genetic variants and Parkinson's disease in a Taiwanese population

Lin, Chin-Hsien; Chen, Kai-Hsiang; Chen, Meng‐Ling; Lin, Han-I; Wu, Ruey‐Meei

doi:10.1016/j.neurobiolaging.2013.10.094

Cited by 32 publications

(20 citation statements)

References 25 publications

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“…Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) was used to determine the polymorphisms. 19 The findings of the study showed that there was an association between Fokl C allele and PD. This suggested a role played by the polymorphism in the development of Parkinson's disease in patients.…”

Section: Studies On Vitamin D Metabolism-linked Genes and Associationmentioning

confidence: 80%

“…The findings of the investigation suggested LRRK2 played a central role in the regulation of phosphate metabolism and the various hormones involved in controlling it. 18 Another study was conducted in Taiwan by Lin et al, 19 to establish vitamin D receptor genetic variants and Parkinson's disease in the local population. The study was based on the findings of a recent study that showed the presence of hypovitaminosis D status and genetic variants of vitamin D receptor (VDR) in the Caucasian population.…”

Section: Studies On Vitamin D Metabolism-linked Genes and Associationmentioning

confidence: 99%

See 1 more Smart Citation

Nutritional Supplementation, Diet, and Genetics and Their Impact on Parkinson’s Disease (PD), a Review of Studies

Petrosino

Matende

2014

JNHFE

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Section: Studies On Vitamin D Metabolism-linked Genes and Associationmentioning

confidence: 80%

Section: Studies On Vitamin D Metabolism-linked Genes and Associationmentioning

confidence: 99%

Nutritional Supplementation, Diet, and Genetics and Their Impact on Parkinson’s Disease (PD), a Review of Studies

Petrosino

Matende

2014

JNHFE

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“…In Hungarian and Chinese case-control studies, CC+TC genotypes of FokI (SNP rs10735810 tagged the FokI restriction site) were more common than the TT genotype in PD patients[14, 16]. Other case-control studies of these RLFPs and other VDR polymorphisms including both smaller and larger numbers of cases did not find associations[15, 39, 40]. A recent two-stage GWAS study of an initial 770 non-Hispanic Caucasian PD families analyzed tag SNPs covering all common variants in and around VDR including four RFLPs we and others have examined.…”

Section: Discussionmentioning

confidence: 99%

Vitamin D receptor gene polymorphisms and Parkinson's disease in a population with high ultraviolet radiation exposure

Gatto

Sinsheimer

Cockburn

et al. 2015

Journal of the Neurological Sciences

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Introduction A high prevalence of vitamin D deficiency has been reported in Parkinson’s disease (PD). Epidemiologic studies examining variability in genes involved in vitamin D metabolism have not taken into account level of exposure to ultraviolet radiation (UVR). We examined whether exposure to UVR (as a surrogate for vitamin D levels) and variations in the vitamin D receptor gene (VDR) are associated with PD. Methods Within a geographical information system (GIS) we linked participants’ geocoded residential address data to ground level UV data to estimate historical exposure to UVR. Six SNPs in VDR were genotyped in non-Hispanic Caucasian subjects. Results Average lifetime UVR exposure levels were >5000 Wh/m2, which was higher than levels for populations in previous studies, and UVR exposure did not differ between cases and controls. Homozygotes for the rs731236 TT (major allele) genotype had a 31% lower risk of PD risk (OR = 0.69; 95% CI = 0.49, 0.98; p=0.04 for TT vs. TC + CC). The rs7975232 GG (minor allele) genotype was also associated with decreased risk of PD (OR = 0.63; 95% CI = 0.42, 0.93; p=0.02 for GG vs. TG + TT). The association between PD risk and a third locus, rs1544410 (BsmI), was not statistically significant after adjustment for covariates, although there was a trend for lower risk with the GG genotype. Conclusions This study provides initial evidence that VDR polymorphisms may modulate risk of PD in a population highly exposed to UVR throughout lifetime.

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“…For 992 age‐ and sex‐matched control subjects, the mean age was 57.8 ± 13.6 years and 52.3% were men. Mutations of previously reported PD causative genes including SNCA , PARK2 , PINK1 , DJ‐1 , ATP13A2 , PLA2G6 , FBXO7 , LRRK2 , DNAJC6 , DNAJC13 , and CHCHD2 were excluded in all familial and early‐onset Parkinsonism patients (Fan et al, ; Lee et al, ; Lin et al, ; Lin et al, ; Lin et al, ; Lin, Chen, Lai, et al, ; Lin, Chen, Tai, et al, ; Wu et al, ). Informed consent was taken from the study participants, and the institutional ethics board committee of National Taiwan University Hospital approved the study (NTUH number 201609033RINB).…”

Section: Methodsmentioning

confidence: 99%

“…However, subsequent studies failed to find TMEM230 mutations in different ethnic populations, even in Chinese PD patients (Baumann et al, ; Buongarzone et al, ; Giri et al, ; He et al, ; Quadri et al, ; Wu et al, ; Yan et al, ). We previously performed a comprehensive analysis of mutations in multiple candidate genes within a cohort of PD patients from Taiwan (Fan, Lin, Lin, & Wu, ; Lee et al, ; Lin et al, ; Lin, Chen, Chen, Lin, & Wu, ; Lin, Chen, Lai, Tai, & Wu, ; Lin, Chen, Tai, Yu, & Wu, ; Lin, Wu, Tai, Chen, & Hu, ; Wu et al, ). However, the major genetic causes remain unclear for most PD patients in this population, especially the early‐onset and familial cases.…”

Section: Introductionmentioning

confidence: 99%

Lack of TMEM230 mutations in patients with familial and sporadic Parkinson's disease in a Taiwanese population

Fan

Lin

et al. 2017

American J of Med Genetics Pt B

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Mutations in transmembrane protein 230 (TMEM230) have recently been reported to be associated with Parkinson's disease (PD) in a North American population. A highly prevalent mutation, c.550_552delTAGinsCCCGGG (p.*184ProGlyext*5) was found in 3.1% of Chinese familial PD patients. However, subsequent studies failed to replicate these findings in different populations. Our objective was to confirm the role of this gene in a large number of PD patients and controls in a Taiwanese population. Among 1,672 participants, we sequenced all coding exons and exon-intron boundary junctions of the TMEM230 gene in 180 probands with familial PD. We also genotyped the potential pathogenic variants identified and the previously reported mutations (p.Arg141Leu, p.Tyr92Cys, p.*184Trpext*5, and p.*184ProGlyext*5) in an additional cohort of 500 patients with sporadic PD, and 992 age and gender-matched neurologically normal control subjects. We did not find any of the previously reported mutations, but we observed one novel missense exonic variant, c.G68A (p.Arg23Gln), in one patient with familial PD, and two patients with sporadic PD in a heterozygous state. However, subsequent analysis of this variant in 992 controls did not find any significant associations between p.Arg23Gln and the risk of PD (0.44% vs. 0.30%, p = 0.22). Our findings suggest that genetic variants of TMEM230 do not play a major role in PD in our Taiwanese population. Further experimental studies are warranted to confirm the pathogenicity of this gene in PD disease process.

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Vitamin D receptor genetic variants and Parkinson's disease in a Taiwanese population

Cited by 32 publications

References 25 publications

Nutritional Supplementation, Diet, and Genetics and Their Impact on Parkinson’s Disease (PD), a Review of Studies

Nutritional Supplementation, Diet, and Genetics and Their Impact on Parkinson’s Disease (PD), a Review of Studies

Vitamin D receptor gene polymorphisms and Parkinson's disease in a population with high ultraviolet radiation exposure

Lack of TMEM230 mutations in patients with familial and sporadic Parkinson's disease in a Taiwanese population

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