Association between G2385R and R1628P polymorphism of LRRK2 gene and sporadic Parkinson’s disease in a Han-Chinese population in south-eastern China

Cai, Jun; Lin, Yi Wen; Chen, Wan‐Jin; Lin, Qi-Fang; Cai, Bin; Wang, Ning; Zheng, Weihong

doi:10.1007/s10072-013-1436-3

Cited by 19 publications

(18 citation statements)

References 26 publications

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“…Totally, 14 studies711131520212223242526272829 were included from across all the ethnic Han-Chinese population that mainly located in Mainland China, Singapore and Taiwan. Process of searching for and screening studies was showed in Figure S1.…”

Section: Resultsmentioning

confidence: 99%

“…We next analysis the available studies711252628 to identify the gender whether influence the outcome of PD with R1628P in LRRK2. The association of R1628P with PD remained significant in male (Fig.…”

Section: Resultsmentioning

confidence: 99%

“…R1628P (c.4883G > C; rs33949390), within the COR domain, was found as the critical genetic risk factor for PD especially among ethnic Han-Chinese population in many previous studies7111319. However, the results about the association between the R1628P of LRRK2 and PD in ethnic Han-Chinese population were controversial.…”

mentioning

confidence: 99%

“…The common variants of LRRK2, mainly distribute nearby the kinase domain, include A419V5, R1441C/G/H6, R1628P7, I2012T8, G2019S9, I2020T10, G2385R11 et al . It’s worth nothing that all confirmed pathogenic variants are various in diverse population and different region.…”

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confidence: 99%

“…It’s worth nothing that all confirmed pathogenic variants are various in diverse population and different region. The R1628P and G2385R of LRRK2 have been reported to be the most important single nucleotide polymorphism sites that increase the risk of PD in ethnic Han-Chinese populations711 while G2019S (c.6050G > A) is common in Europeans. In addition, G2019S variant was rarely among India8, but not detected in Chinese population1012, Haplotype analysis suggested LRRK2 R1628P variant is more recent than G2385R variant, approximately 2,500 years and 4,000 years ago respectively1314.…”

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confidence: 99%

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Association of LRRK2 R1628P variant with Parkinson’s disease in Ethnic Han-Chinese and subgroup population

Zhang

Wang

Jiao

et al. 2016

Sci Rep

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Recent studies have linked certain single nucleotide polymorphisms in the leucine-rich repeat kinase 2 (LRRK2) gene with Parkinson’s disease (PD). The R1628P variant of LRRK2 may be a specific risk factor for PD in ethnic Han-Chinese populations. This study is to elucidate the epidemiological feature of R1628P in ethnic Han-Chinese population with PD. A comprehensive meta-analysis was performed to evaluate the precise association between R1628P variant and the risk for PD in ethnic Han-Chinese and subgroups stratified by gender, onset age, or family history. The analysis assessing the role of R1628P on the risk of PD in ethnic Han-Chinese supported a significant association, and the odds ratio was 1.86. We further estimate the specific prevalence in relevant ethnic Han-Chinese subgroups. After stratifying the eligible data by gender, onset age, or family history, significant associations were found in all male, female, early-onset, late-onset, familial and sporadic subgroups, and the odds ratio were 1.90, 1.94, 2.12, 1.75, 6.71 and 1.81 respectively. In conclusion, our meta-analysis suggests that R1628P variant of LRRK2 has a significant association with the risk of PD in ethnic Han-Chinese and subgroup population.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

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Association of LRRK2 R1628P variant with Parkinson’s disease in Ethnic Han-Chinese and subgroup population

Zhang

Wang

Jiao

et al. 2016

Sci Rep

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LRRK2 G2385R variant carriers of female Parkinson’s disease are more susceptible to motor fluctuation

Gao

Pang²,

Luo

et al. 2013

J Neurol

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The relation between the LRRK2 mutation and its effect on Parkinson's disease (PD) has always caught a lot attention. Recent studies found that the G2385R polymorphism of LRRK2 may increase the risk of PD in Asian populations. Here we tried to clarify the relationship between the LRRK2 G2385R variant and the clinical profiles including motor complication in Chinese PD patients. We identified the LRRK2 variant in the Chinese Han population in northern China and evaluated the relationship between the G2385R variant and clinical profiles through comparison between 36 carriers and 139 non-carriers. We found that G2385R carriers scored significantly higher in motor fluctuation and dyskinesia than non-carriers. Logistic regression analysis showed that the G2385R variant was an independent risk factor for motor fluctuation in females (odds ratio = 12.538, 95 % CI 2.216-70.942, P = 0.004), and a Chi-squared test showed that the frequency of dyskinesia tended to be higher in the carrier group compared to the non-carrier group (16 vs. 4.4 %, P = 0.050, OR = 4.127, 95 % CI 1.074-15.864). These findings indicate that the variant was closely related to the occurrence of motor complication. Additionally, the G2385R variant was significantly related to the early-onset of PD in female carriers (20.0 vs. 1.5 %, odds ratio = 16.25, 95 % CI 1.557-169.618, P = 0.020). Our study found that the G2385R variant was significantly associated with motor complications and that this variant was an independent risk factor for motor fluctuation in females. These findings provide the necessary preliminary data to better understand the unique profile of PD G2385R variant carriers.

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The association between the LRRK2 G2385R variant and the risk of Parkinson’s disease: a meta-analysis based on 23 case–control studies

et al. 2014

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Clinical diagnosis of Parkinson's disease (PD) is essential but misdiagnosis of PD-like diseases is quite common. LRRK2 G2385R variants have been extensively examined for the association to the risk of Parkinson's disease. However, results from different studies are inconsistent. The purpose of this meta-analysis was to assess the association between the LRRK2 G2385R variants and the risk of PD. A systematic literature search was performed for 6 databases up to January of 2014 to identify case-control studies involving LRRK2 G2385R variants and the risk of PD. A total of 12,915 cases and 12,451 controls in 23 case-control studies were included in this meta-analysis. The results indicated that the variant A allele carriers (GA + AA) increased risk of PD when compared with the homozygote GG (GA + AA vs. GG: OR = 2.4, 95 % CI = 1.97 to 2.92, P < 0.00001). In the subgroup analysis by ethnicity, increased risks were identified among Chinese (OR = 2.69, 95 % CI = 2.1-3.45, P < 0.00001) as well as in non-Chinese (OR = 2.17, 95 % CI 1.75-2.69, P < 0.00001). In the subgroup analysis by age of onset, significant associations were found in both later-onset PD (LOPD) and early-onset PD (EOPD) cases. And there was no significant difference of the allele frequency between patients with LOPD and EOPD (OR = 1.18, 95 % CI = 0.77-1.80, P = 0.45). Our results suggest that the LRRK2 G2385R variants contribute to the susceptibility of PD especially in Chinese PD. Meanwhile, it is possible that age is not the risk factor to facilitate G2385R gene mutation.

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Association between G2385R and R1628P polymorphism of LRRK2 gene and sporadic Parkinson’s disease in a Han-Chinese population in south-eastern China

Cited by 19 publications

References 26 publications

Association of LRRK2 R1628P variant with Parkinson’s disease in Ethnic Han-Chinese and subgroup population

Association of LRRK2 R1628P variant with Parkinson’s disease in Ethnic Han-Chinese and subgroup population

LRRK2 G2385R variant carriers of female Parkinson’s disease are more susceptible to motor fluctuation

The association between the LRRK2 G2385R variant and the risk of Parkinson’s disease: a meta-analysis based on 23 case–control studies

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