BDgene

Study Report

Basic Info
Reference
Citation Ram Murthy, A., M. Purushottam, et al. (2012). "Gender-specific association of TSNAX/DISC1 locus for schizophrenia and bipolar affective disorder in South Indian population." J Hum Genet 57(8): 523-530.
Disease Type bipolar affective disorder & schizophrenia
Study Design case-control
Study Type Candidate-gene association study
Sample Size 419 patients with BPAD type I, 408 patients with SCZ and 425 controls
SNP/Region/Marker Size 7 SNPs
Predominant Ethnicity
Population Indian
Gender 225 males and 194 females with BPAD type I, 246 males and 162 females with SCZ, 243 males and 182 females controls
Age Group adults : mean age at assessment: 29.02, SD=10.98 years of BPAD patients, mean age at assessment: 29.08, SD=7.84 years of SCZ patients, mean age: 33.61, SD=11.15 years of controls

Detail Info

Genetic factors reported by this study for BD
SNPs reported by this study for BD (count: 4)

Haplotypes reported by this study for BD (count: 14)

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

Gene-gene interactions reported by this study for BD (count: 1)

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 rs2812393 DISC1 TSNAX SZ patients: P-value=0.093, P-value=0.026 for females, P-value=0.775 for males; BPAD&SCZ: P-value=0.073, P-value=0.028 for females, P-value=0.668 for males Moderate associations were also observed in females for rs2812393 (SCZ, P=0.026; BPAD&SCZ, P=0.028). Positive
SZ rs3738401 DISC1 TSNAX SZ patients: P-value=0.794, P-value=0.473 for females, P-value=0.427 for males; BPAD&SCZ: P-value=0.520, P-value=0.875 for females, P-value=0.529 for males Negative
SZ rs766288 TSNAX DISC1 SZ patients: P-value=0.906, P-value=0.03 for females, P-value=0.105 for males; BPAD&SCZ: P-value=0.336, P-value=0.004 for females, P-value=0.248 for males The most significant association was found for combined female cases of BPAD or SCZ. Moderate associations were also observed in females for rs766288 (SCZ, P=0.03) Positive
SZ rs821616 DISC1 TSNAX SZ patients: P-value=0.179, P-value=0.213 for females, P-value=0.579 for males; BPAD&SCZ: P-value=0.04, P-value=0.138 for females, P-value=0.183 for males One SNP (rs821616) showed moderate significant association with cases compared with controls in regression analysis Positive

Haplotypes reported by this study for SZ/MDD
Disease Markers Haplotype Related Gene(s)/Region(s) Statistical Values Description Result Category
SZ rs2812393 - rs821616 G-A DISC1 P-value=0.976 for SCZ, P-value=0.806 for combined cases, P-value=0.958 for SCZ females, P-value=0.834 for combined females, P-value=0.941 for SCZ males, P-value=0.898 for combined males Negative
SZ rs2812393 - rs821616 G-T DISC1 P-value=0 for SCZ, P-value=0.001 for combined cases, P-value=0.007 for SCZ females, P-value=0.005 for combined females, P-value=0.02 for SCZ males, P-value=0.039 for combined males Allelic combinations of G-T in SCZ (P=0), combined cases of BPAD or SCZ (P=0.001), SCZ females (P=0.007) and combined females (P=0.005) were observed to be protective combination of alleles. These combinations survived multiple corrections. In addition allelic combinations of G-T showed nominal significance, but did not withstand FDR corrections. Positive
SZ rs766288 - rs2812393 A-C TSNAX DISC1 P-value=0.529 for SCZ, P-value=0.632 for combined cases, P-value=0.626 for SCZ females, P-value=0.216 for combined females, P-value=0.175 for SCZ males, P-value=0.099 for combined males Negative
SZ rs2812393 - rs821616 C-A DISC1 P-value=0.236 for SCZ, P-value=0.125 for combined cases, P-value=0.078 for SCZ females, P-value=0.077 for combined females, P-value=0.931 for SCZ males, P-value=0.673 for combined males Negative
SZ rs2812393 - rs821616 C-T DISC1 P-value=0.381 for SCZ, P-value=0.531 for combined cases, P-value=0.659 for SCZ females, P-value=0.642 for combined females, P-value=0.119 for SCZ males, P-value=0.206 for combined males Negative
SZ rs766288 - rs821616 C-T TSNAX DISC1 P-value=0.093 for SCZ, P-value=0.115 for combined cases, P-value=0.307 for SCZ females, P-value=0.489 for combined females, P-value=0.177 for SCZ males, P-value=0.138 for combined males Negative
SZ rs766288 - rs821616 A-A TSNAX DISC1 P-value=0.42 for SCZ, P-value=0.831 for combined cases, P-value=0.074 for SCZ females, P-value=0.022 for combined females, P-value=0.016 for SCZ males, P-value=0.028 for combined males Few additional combinations that were found to be significantly associated after multiple corrections (n=12) were A-T in BPAD females (P=0.012, protective combination); C-A (P=0.014, risk combination), C-A in SCZ females (P=0.011, risk combination), A-T in combined female cases (P=0.012, protective combination) and A-A in combined female cases (P=0.022, protective combination) compared with control females. However nominal significance observed in BPAD (C-A, P=0.024, risk combination), cases with the combined phenotype (C-A, P=0.019, risk combination), SCZ males (A-A, P=0.016, risk combination) and males with the combined phenotype (A-A, P=0.028, risk combination), which did not withstand the multiple corrections. Positive
SZ rs766288 - rs821616 C-A TSNAX DISC1 P-value=0.082 for SCZ, P-value=0.019 for combined cases, P-value=0.011 for SCZ females, P-value=0.004 for combined females, P-value=0.901 for SCZ males, P-value=0.589 for combined males Allelic combination C-A (P=0.004) in the female cases with combined phenotype showed significant association when multiple corrections were performed for all tests within each stratified gender (combined, females, males). Positive
SZ rs766288 - rs3738401 - rs2812393 - rs821616 A-G-G-T TSNAX DISC1 P-value=0.0469 for BPAD&SZ, P-value=0.0209 for BPAD females &SCZ females Haplotype A-G-G-T was also underrepresented in combined cases of BPAD or SCZ (P=0.0469), BPAD females (P=0.0273) and pooled females of BPAD or SCZ (P=0.0209). Positive
SZ rs766288 - rs2812393 C-G TSNAX DISC1 P-value=0.46 for SCZ, P-value=0.703 for combined cases, P-value=0.626 for SCZ females, P-value=0.969 for combined females, P-value=0.639 for SCZ males, P-value=0.672 for combined males Negative
SZ rs766288 - rs2812393 A-G TSNAX DISC1 P-value=0.62 for SCZ, P-value=0.551 for combined cases, P-value=0.016 for SCZ females, P-value=0.013 for combined females, P-value=0.174 for SCZ males, P-value=0.212 for combined males Other combinations in BPAD females (C-C, P=0.003, risk combination) and SCZ females (C-C, P=0.011, risk combination; A-G, P=0.016, protective combination), combined female cases (A-G, P=0.013, protective combination; C-C, P=0.001, risk combination) were found to be significantly associated after FDR corrections. Positive
SZ rs766288 - rs2812393 C-C TSNAX DISC1 P-value=0.099 for SCZ, P-value=0.016 for combined cases, P-value=0.011 for SCZ females, P-value=0.001 for combined females, P-value=0.993 for SCZ males, P-value=0.703 for combined males Analyses of these two SNPs showed significant associations with allelic combination C-C (P=0.009) in the BPAD phenotype when multiple corrections were performed for all tests within each stratified gender (combined, females, males). Positive
SZ rs766288 - rs821616 A-T TSNAX DISC1 P-value=0.577 for SCZ, P-value=0.215 for combined cases, P-value=0.097 for SCZ females, P-value=0.012 for combined females, P-value=0.476 for SCZ males, P-value=0.606 for combined males Few additional combinations that were found to be significantly associated after multiple corrections (n=12) were A-T in BPAD females (P=0.012, protective combination); C-A (P=0.014, risk combination), C-A in SCZ females (P=0.011, risk combination), A-T in combined female cases (P=0.012, protective combination) and A-A in combined female cases (P=0.022, protective combination) compared with control females. However nominal significance observed in BPAD (C-A, P=0.024, risk combination), cases with the combined phenotype (C-A, P=0.019, risk combination), SCZ males (A-A, P=0.016, risk combination) and males with the combined phenotype (A-A, P=0.028, risk combination), which did not withstand the multiple corrections. Positive
SZ rs766288 - rs3738401 - rs2812393 - rs821616 C-G-G-T TSNAX DISC1 P-value=0.0189 for SCZ, P-value=0.0065 for BPAD&SCZ, P-value=0.0205 for BPAD males & SCZ males C-G-G-T haplotype showed relatively lesser frequency in BPAD (P=0.028), SCZ (P=0.0189) and combined cases of BPAD or SCZ (P=0.0065) and combined males of BPAD or SCZ (P=0.0205) compared with controls. Positive

Genes reported by this study for SZ/MDD
Disease Gene Description Result Category
SZ DISC1 Our results provide further evidence for sex-dependent effects of the TSNAX/DISC1 locus in the aetiology of SCZ and BPAD. Positive
SZ TSNAX Our results provide further evidence for sex-dependent effects of the TSNAX/DISC1 locus in the aetiology of SCZ and BPAD. Positive

Gene-gene interactions reported by this study for SZ/MDD
Disease Gene Group Markers Statistical Values Description Result Category
SZ rs766288 - rs3738401 - rs2812393 - rs821616; rs766288 - rs821616; rs766288 - rs2812393 P-value < 0.05 for markers "rs766288-rs3738401-rs2812393-rs821616" with haplotype "C-G-G-T" and "A-G-G-T", "rs766288-rs821616" with haplotype "C-A", "A-A" and "A-T", "rs766288-rs2812393" with haplotype "C-C" and "A-G" for SCZ or BPAD&SCZ. Several markers among thest two genes were tested associated with SCZ or BPAD&SCZ. Positive