PARKIN-coding polymorphisms are not associated with Parkinson's disease in a population from northeastern Mexico

Association of Parkinson’s disease with six single nucleotide polymorphisms located in four PARK genes in the northern Han Chinese population

“…Martínez et al reported that both polymorphisms were found in equal frequencies in patients and controls, and their results did not support a role for these two PARKIN-coding polymorphisms in Mexican patients with PD. 1 In this study, we found no difference in the allelic frequency in the R366W site between the two groups. Although the number of the V380L allele carriers in the control group was slightly greater than that in the patient group, there was no statistically significant difference.…”

The rs3857059 variant of the SNCA gene is associated with Parkinson’s disease in Mexican Mestizos

“…Nonetheless, major susceptibility genes remain unknown 18,19 . Unlike in other ethnic groups, the A30P, IVS4 + 66A-G in SNCA, and other known point mutations in the PARK2 gene are uncommon in Mexican Mestizos 18,20,21 . The rs3857059 variant of the SNCA gene was associated with expression levels of SNCA mRNA in the temporal cortex of brain biopsies of patients with Alzheimer's & Lewy Body pathology; homozygotes for the minor allele (G) demonstrated significantly higher expression.…”

Original article Low prevalence of most frequent pathogenic variants of six PARK genes in sporadic Parkinson’s disease

“…Interestingly, a high frequency of celiac disease was also described in North Africans [10]. Thus, it is likely that the combination of the A prior study of PARK2 and PD in Mexicanmesti zos showed the absence of homozygous p.Arg366Trp and p.Asp394Asn polymorphisms; interestingly, two polymorphisms p.Ser167Asn and p.Val380Leu were in HWE disequilibrium; authors suggested a compet ing risk of death of variant carriers to explain such finding [23]. We speculate that HWE disequilibrium could be reminiscent evidence of prevalent diseases such as leprosy and tuberculosis in native popula tions of Mexico (http://www.salud.gob.mx/docprog/ estrategia_2/salud_y_nutricion.pdf [20/04/2013]).…”

“…Interestingly, some mitochondri al variants and haplogroups are thought to mod ify the risk of developing PD [15,38] by decreasing or increasing the penetrance of genetic variants in nuclear diseasegenes (PARK genes). In this regard, it is known that the Mexican population was a result of genetic admixture among Amerindians, Caucasian and in a lesser extent, Africans [29] and, as in other Latin American populations [1], genetic factors pre disposing to PD in Mexicanmestizos remain largely unknown [23,28,40]. Therefore, the aim of this study was to analyze the possible association between variants in PARK genes and PD by multiple screening as well as the weighing of their clinical relevance in Mexicanmestizo patients with sporadic PD (sPD).…”