Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030567 (Parkinson's disease)
 63,064 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We performed a two-tiered, whole-genome association study of Parkinson disease (PD). For tier 1, we individually genotyped 198,345 uniformly spaced and informative single-nucleotide polymorphisms (SNPs) in 443 sibling pairs discordant for PD. For tier 2a, we individually genotyped 1,793 PD-associated SNPs (P<.01 in tier 1) and 300 genomic control SNPs in 332 matched case-unrelated control pairs. We identified 11 SNPs that were associated with PD (P<.01) in both tier 1 and tier 2 samples and had the same direction of effect. For these SNPs, we combined data from the case-unaffected sibling pair (tier 1) and case-unrelated control pair (tier 2) samples and employed a liberalization of the sibling transmission/disequilibrium test to calculate odds ratios, 95% confidence intervals, and P values. A SNP within the semaphorin 5A gene (SEMA5A) had the lowest combined P value (P=7.62 x 10(-6)). The protein encoded by this gene plays an important role in neurogenesis and in neuronal apoptosis, which is consistent with existing hypotheses regarding PD pathogenesis. A second SNP tagged the PARK11 late-onset PD susceptibility locus (P=1.70 x 10(-5)). In tier 2b, we also selected for genotyping additional SNPs that were borderline significant (P<.05) in tier 1 but that tested a priori biological and genetic hypotheses regarding susceptibility to PD (n=941 SNPs). In analysis of the combined tier 1 and tier 2b data, the two SNPs with the lowest P values (P=9.07 x 10(-6); P=2.96 x 10(-5)) tagged the PARK10 late-onset PD susceptibility locus. Independent replication across populations will clarify the role of the genomic loci tagged by these SNPs in conferring PD susceptibility.
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PMID:High-resolution whole-genome association study of Parkinson disease. 1668 63

A SNP rs7702187 within the semaphorin 5A gene (Sema5A) has been recently associated with sporadic Parkinson's disease (PD) risk in American Caucasians. In the present study frequencies of rs7702187 was determined in two independent populations involving 427 sporadic PD patients (235 Polish Caucasians and 192 Asians from Singapore) and 412 healthy controls (220 Caucasians and 192 Asians), with the use of PCR-RFLP assay. The frequencies of the minor allele were found to be very similar in PD patients and healthy controls in both populations studied: 0.147 versus 0.143 in Caucasian, and 0.224 versus 0.221 in Asian, respectively. Our research does not confirm the previous observation, as no relationship was found between polymorphism within Sema5A gene and the risk of PD. It can be concluded that rs7702187 SNP in Sema5a gene is not a marker of PD risk in the studied populations.
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PMID:Polymorphism in semaphorin 5A (Sema5A) gene is not a marker of Parkinson's disease risk. 1648 Nov 3