Study Report

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Basic Info

Reference	Zain, M. A., 2013 PMID: 24064681
Citation	Zain, M. A., S. N. Roffeei, et al. (2013). "Nonsynonymous polymorphisms of the PDLIM5 gene association with the occurrence of both bipolar disorder and schizophrenia." Psychiatr Genet.
Disease Type	bipolar disorder & schizophrenia
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	244 bipolar disorder patients, 471 schizophrenia patients, and 601 control individuals
SNP/Region/Marker Size	2 SNPs
Predominant Ethnicity	Malay, Chinese, and Indian ethnic groups
Population	Malaysian
Gender	128 men and 116 women patients with BD; 270 men and 201 women patients with SZ; 371 men and 230 women controls
Age Group	adults : mean age 43.54, SD=12.39, years of BD patients, mean age 40.49, SD=12.08 years of SZ patients, mean age 38.11, SD=11.82 years of controls

Detail Info

Sample Diagnosis	DMS-IV
Sample Status	Recruitment of study patients was carried out in the inpatients and outpatients psychiatric clinics of two medical centers, namely, the University of Malaya Medical Center (UMMC), and the Universiti Kebangsaan Malaysia Medical Centre. These individuals were also checked for absence of concurrent chronic diseases and/or alcoholism and substance abuse.
Technique	genotyped using Sequenom Mass-Array SNP genotyping
Statistical Method	The Hardy-Weinberg equilibrium values for both SNPs were calculated using calculator online tools. The odds ratios (ORs) with 95% confidence interval (CI) were adjusted for age at study, sex, and ethnicity through binary logistic regression analysis. Two-sided tests of statistical significance were used to determine statistically significant P-values (P<0.05), following which the Bonferroni correction was used for multiple tests of the two SNPs in patients and controls. The power of this study was determined and calculations to estimate the sample size were performed using Power for Association with Error online tools. Haplotype and linkage disequilibrium (LD) analysis for both SNPs of PDLIM5 was carried out using SHEsis online tools.
Result Summary	A significant association was observed in allele frequency between the rs7690296 polymorphism and bipolar disorder in the Indian ethnic group [P = 0.02, adjusted odds ratio (OR) 0.058, 95% confidence interval (CI) 0.36-0.93]. A significant association was also observed between the rs7690296 polymorphism and schizophrenia under the recessive model for both Malay (P = 0.02, adjusted OR 1.86, 95% CI 1.12-3.10) and Indian (P =0.02, adjusted OR 1.92, 95% CI 1.10-3.37) ethnic groups. However, no association was detected between the rs11097431 polymorphism either with bipolar disorder or with schizophrenia. Therefore, it can be deduced that the nonsynonymous rs7690296 polymorphism could play an important role in the pathophysiology of both bipolar disorder and schizophrenia.

Genetic factors reported by this study for BD

SNPs reported by this study for BD (count: 2)

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs11097431	PDLIM5	G/A		For A vs. G: P-value=0.31, OR (95% CI)=1.21 (0.84-1.76) in pooled samples; P-value=0.20, OR (95% CI)=1.63 (0.83-3.19) in Malay, P-value=1.00, OR (95% CI)=0 (0) in Chinese, P-value=0.74, OR (95% CI)=1.15 (0.50-2.64)in Indian; For G/A vs. G/G: P-value=0.72, OR (95% CI)=1.08 (0.72-1.60) in pooled sample, P-value=0.20, OR (95% CI)=1.52 (0.75-3.09) in Malay, P-value=0.65, OR (95% CI)=0.87 (0.48-1.57) in Chinese, P-value=0.73, OR (95% CI)=1.17 (0.49-2.79) in Indian; For A/A vs. G/G: P-value=1.00, OR (95% CI)=4.604e8 (0) in pooled sample, P-value=0.99, OR (95% CI)=0 (0) in Malay, P-value=1.00, OR (95% CI)=0 (0) in Chinese; For A/A vs. G/A +G/G: P-value=1.00, OR (95% CI)=4.535e8 (0) in pooled sample, P-value=0.99, OR (95% CI)==0 (0) in Malay, P-value=1.00, OR (95% CI)=0 (0) in Chinese; For A/A +G/A vs. G/G: P-value=0.62, OR (95% CI)=1.10 (0.74-1.65) in pooled sample, P-value=0.20, OR (95% CI)=1.61 (0.79-3.26) in Malay, P-value=0.68, OR (95% CI)=0.88 (0.49-1.59) in Chinese, P-value=0.73, OR (95% CI)=1.17 (0.49-2.79) in Indian	no association was observed between the rs11097431 polymorph...... no association was observed between the rs11097431 polymorphism and bipolar disorder. More...	Negative
rs7690296	PDLIM5	G/A		For G vs. A: P-value=0.76, OR (95% CI)=1.04 (0.83-1.29) in pooled samples; P-value=0.97, OR (95% CI)=1.01 (0.69-1.47) in Malay, P-value=0.55, OR (95% CI)=1.21 (0.65-2.27) in Chinese, P-value=0.02, OR (95% CI)=0.58 (0.36-0.93)in Indian; For A/G vs. A/A: P-value=0.19, OR (95% CI)=1.29 (0.89-1.88) in pooled sample, P-value=0.26, OR (95% CI)=1.42 (0.77-2.95) in Malay, P-value=0.08, OR (95% CI)=1.65 (0.94-2.91) in Chinese, P-value=0.15, OR (95% CI)=0.50 (0.19-1.29) in Indian; For G/G vs. A/A: P-va;ie=0.77, OR (95% CI)=0.94 (0.61-1.45) in pooled sample, P-value=0.84,OR (95% CI)=0.93 (0.45-1.93) in Malay, P-value=0.18, OR (95% CI)=1.62 (0.80-3.27) in Chinese, P-value=0.03, OR (95% CI)=0.33 (0.12-0.88) in Indian; For G/G vs. A/G + A/A: P-value=0.24, OR (95% CI)=0.80 (0.55-1.16) in pooled sample, P-value=0.40, OR (95% CI)=0.76 (0.40-1.44) in Malay, P-value=0.55, OR (95% CI)=1.21 (0.65-2.27) in Chinese, P-value=0.08, OR (95% CI)=0.55 (0.23-1.07) in Indian; For A/G + G/G vs. A/A: P-value=0.41, OR (95% CI)=1.16 (0.82-1.65) in pooled sample, P-value=0.44, OR (95% CI)=1.25 (0.71-2.18) in Malay, P-value=0.07, OR (95% CI)=1.64 (0.97-2.78) in Chinese, P-value=0.06, OR (95% CI)=0.42 (0.17-1.02) in Indian	It provided no indication of any existing association betwee...... It provided no indication of any existing association between genotype distributions for both SNPs with bipolar disorder and schizophrenia in pooled individuals. Following stratification into ethnicity, there was a significant association in allelic group and the codominant model of rs7690296 with bipolar disorder in Indian patients as well as an observed trend toward association in recessive and dominant models. A trend toward association was also detected using the codominant and dominant models of rs7690296 with bipolar disorder in Chinese patients. More...	Positive

Genes reported by this study for BD (count: 1)

Gene	Statistical Values/Author Comments	Result Category
PDLIM5	Therefore, it can be deduced that the nonsynonymous rs7690296 polymorphism could play an important r...... Therefore, it can be deduced that the nonsynonymous rs7690296 polymorphism could play an important role in the pathophysiology of both bipolar disorder and schizophrenia. More...	Positive

Genetic factors reported by this study for SZ and/or MDD

SNPs reported by this study for SZ/MDD

Disease	SNP	Related Gene(s)	Statistical Values	Description	Result Category
SZ	rs7690296	PDLIM5	For G vs. A: P-value=0.81, OR (95% CI)=1.02 (0.86-1.22) in pooled samples; P-value=0.08, OR (95% CI)=1.32 (0.97-1.80) in Malay, P-value=0.04, OR (95% CI)=0.75 (0.60-0.99) in Chinese, P-value=0.06, OR (95% CI)=1.43 (0.98-2.07) in Indian; For A/G vs. A/A: P-value=0.21, OR (95% CI)=0.83 (0.62-1.12) in pooled sample, P-value=0.59, OR (95% CI)=0.87 (0.52-1.45) in Malay, P-value=0.20, OR (95% CI)=0.75 (0.49-1.16) in Chinese, P-value=0.94, OR (95% CI)=0.97 (0.49-1.95) in Indian; For G/G vs. A/A: P-value=0.46, OR (95% CI)=1.14 (0.81-1.60) in pooled sample, P-value=0.80, OR (95% CI)=1.71 (0.94-3.10) in Malay, P-value=0.22, OR (95% CI)=0.71 (0.42-1.22) in Chinese; P-value=0.09, OR (95% CI)=1.89 (0.91-3.92) in India; For G/G vs. A/G +A/A: P-value=0.99, OR (95% CI)=1.27 (0.96-1.70) in pooled sample, P-value=0.02, OR (95% CI)=1.86 (1.12-3.10) in Malay, P-value=0.48, OR (95% CI)=0.85 (0.53-1.35) in Chinese; P-value=0.02, OR (95% CI)=1.92 (1.10-3.37) in Indian; For A/G + G/G vs. A/A: P-value=0.56, OR (95% CI)=0.92 (0.70-1.21) in pooled sample, P-value=0.75, OR (95% CI)=1.08 (0.68-1.73) in Malay, P-value=0.15, OR (95% CI)=0.74 (0.49-1.11) in Chinese, P-value=0.43, OR (95% CI)=1.29 (0.68-2.46) in Indian	It provided no indication of any existing association between genotype distributions for both SNPs with bipolar disorder and schizophrenia in pooled individuals. The results showed a significant association using the recessive model for the rs7690296 polymorphism with schizophrenia in Malays and Indians, and a trend toward significance for the allelic model of the polymorphism was observed.	Positive
SZ	rs11097431	PDLIM5	For A vs. G: P-value=0.78, OR (95% CI)=0.96 (0.72-1.28) in pooled samples; P-value=0.85, OR (95% CI)=0.96 (0.59-1.55) in Malay, P-value=0.29, OR (95% CI)=0.78 (0.50-1.23) in Chinese, P-value=0.45, OR (95% CI)=1.27 (0.68-2.38) in Indian; For G/A vs. G/G: P-value=0.58, OR (95% CI)=1.09 (0.81-1.47) in pooled sample, P-value=0.76, OR (95% CI)=1.08 (0.65-1.83) in Malay, P-value=0.64, OR (95% CI)=0.90 (0.57-1.42) in Chinese, P-value=0.34, OR (95% CI)=1.38 (0.72-2.66) in Indian; For A/A vs. G/G: P-value=0.77, OR (95% CI)=0.78 (0.14-4.32) in pooled sample, P-value=1.00, OR (95% CI)=1.00 (1.161-6.27) in Malay, P-value=1.00, OR (95% CI)=0 (0) in Chinese; For A/A vs. G/A +G/G: P-value=0.76, OR (95% CI)=0.77 (0.14-4.23) in pooled sample, P-value=0.99, OR (95% CI)=0.99 (0.16-6.14) in Malay, P-value=1.00, OR (95% CI)=0 (0) in Chinese; For G/A + A/A vs. G/G: P-value=0.62, OR (95% CI)=1.08 (0.80-1.45) in pooled sample, P-value=0.77, OR (95% CI)=1.09 (0.65-1.80) in Malay, P-value=0.58, OR (95% CI)=0.88 (0.56-1.39) in Chinese, P-value=0.34, OR (95% CI)=1.38 (0.72-2.66) in Indian	No association was detected between the rs11097431 polymorphism and schizophrenia in any of the three ethnicities.	Negative

Genes reported by this study for SZ/MDD

Disease	Gene	Description	Result Category
SZ	PDLIM5	Therefore, it can be deduced that the nonsynonymous rs7690296 polymorphism could play an important role in the pathophysiology of both bipolar disorder and schizophrenia.	Positive