Jodie Jetann - Profile on Academia.edu (original) (raw)

Papers by Jodie Jetann

Research paper thumbnail of Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

Nature Genetics, Oct 9, 2011

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

Research paper thumbnail of Common sequence variants on 20q11.22 confer melanoma susceptibility

Nature Genetics, May 18, 2008

Correspondence should be addressed to S.M.

Research paper thumbnail of Supporting Workers to Sit Less and Move More Through the Web-Based BeUpstanding Program: Protocol for a Single-Arm, Repeated Measures Implementation Study

JMIR Research Protocols, May 4, 2020

Background: The web-based BeUpstanding Champion Toolkit was developed to support work teams in ad... more Background: The web-based BeUpstanding Champion Toolkit was developed to support work teams in addressing the emergent work health and safety issue of excessive sitting. It provides a step-by-step guide and associated resources that equip a workplace representative-the champion-to adopt and deliver the 8-week intervention program (BeUpstanding) to their work team. The evidence-informed program is designed to raise awareness of the benefits of sitting less and moving more, build a supportive culture for change, and encourage staff to take action to achieve this change. Work teams collectively choose the strategies they want to implement and promote to stand up, sit less, and move more, with this bespoke and participative approach ensuring the strategies are aligned with the team's needs and existing culture. BeUpstanding has been iteratively developed and optimized through a multiphase process to ensure that it is fit for purpose for wide-scale implementation. Objective: The study aimed to describe the current version of BeUpstanding, and the methods and protocol for a national implementation trial. Methods: The trial will be conducted in collaboration with five Australian workplace health and safety policy and practice partners. Desk-based work teams from a variety of industries will be recruited from across Australia via partner-led referral pathways. Recruitment will target sectors (small business, rural or regional, call center, blue collar, and government) that are of

Research paper thumbnail of Genomewide association study identifies a new melanoma susceptibility locus at 1q21.3.Nat.Genet

Replication Sample 2 -MD Anderson Cancer Center: Association analysis of genotyped SNPs was done ... more Replication Sample 2 -MD Anderson Cancer Center: Association analysis of genotyped SNPs was done using the PLINK --logistic option 13 . The first 2 principal components were included to adjust for population structure. Replication Sample 3 -Harvard: Association analysis of genotyped SNPs was done using SAS V9.1 (SAS Institute, Cary, NC). Unconditional logistic regression was employed to calculate odds ratios (ORs) and 95% confidence intervals (CIs) adjusting for age and gender. * United States 2 samples were only typed for rs7412746 and rs3219090 using the OpenArray™ SNP Genotyping System

Research paper thumbnail of Practice of Epidemiology Population-based, Case-Control-Family Design to Investigate Genetic and Environmental Influences on Melanoma Risk Australian Melanoma Family Study

Practice of Epidemiology Population-based, Case-Control-Family Design to Investigate Genetic and Environmental Influences on Melanoma Risk Australian Melanoma Family Study

Discovering and understanding genetic risk factors for melanoma and their interactions with pheno... more Discovering and understanding genetic risk factors for melanoma and their interactions with phenotype, sun exposure, and other risk factors could lead to new strategies for melanoma control. This paper describes the Australian Melanoma Family Study, which uses a multicenter, population-based, case-control-family design. From 2001 to 2005, the authors recruited 1,164 probands including 629 cases with histopathologically confirmed, first-primary cutaneous melanoma diagnosed before age 40 years, 240 population-based controls frequency matched for age, and 295 spouse/friend controls. Information on lifetime sun exposure, phenotype, and residence history was collected for probands and nearly 4,000 living relatives. More than 3,000 subjects donated a blood sample. Proxy-reported information was collected for childhood sun exposure and deceased relatives. Important features of this study include the population-based, family-based design; a focus on early onset disease; probands from 3 majo...

Research paper thumbnail of Study Protocol for The National Implementation Trial of BeUpstanding™: A Broad-Reach Technology-Supported Program for Workers To Sit Less and Move More (Preprint)

UNSTRUCTURED Background: The online BeUpstandingTM Champion Toolkit was developed to support work... more UNSTRUCTURED Background: The online BeUpstandingTM Champion Toolkit was developed to support work teams in addressing the emergent work health and safety issue of excessive sitting. It provides a step-by-step guide and associated resources that equip a workplace representative — the “champion” — to adopt and deliver the eight-week intervention program (BeUpstanding) to their work team. The evidence-informed program has been iteratively developed and optimised through a multi-phase process to ensure that it is fit-for-purpose for wide-scale implementation. This paper describes the current version of BeUpstanding, and the methods and protocol for a national implementation trial. Methods: The trial will be conducted in collaboration with five Australian workplace health and safety policy and practice partners. Desk-based work teams from a variety of industries will be recruited from across Australia via partner-led referral pathways. Recruitment will target sectors (small business, rur...

Research paper thumbnail of Common sequence variants on 20q11.22 confer melanoma susceptibility

Nature Genetics, 2008

We conducted a genome-wide association pooling study for cutaneous melanoma and performed validat... more We conducted a genome-wide association pooling study for cutaneous melanoma and performed validation in samples totaling 2,019 cases and 2,105 controls. Using pooling, we identified a new melanoma risk locus on chromosome 20 (rs910873 and rs1885120), with replication in two further samples (combined P o 1 Â 10 À15 ). The per allele odds ratio was 1.75 (1.53, 2.01), with evidence for stronger association in early-onset cases.

Research paper thumbnail of A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

Nature, 2011

So far, two genes associated with familial melanoma have been identified, accounting for a minori... more So far, two genes associated with familial melanoma have been identified, accounting for a minority of genetic risk in families. Mutations in CDKN2A account for approximately 40% of familial cases 1 , and predisposing mutations in CDK4 have been reported in a very small number of melanoma kindreds 2 . Here we report the whole-genome sequencing of probands from several melanoma families, which we performed in order to identify other genes associated with familial melanoma. We identify one individual carrying a novel germline variant (coding DNA sequence c.G1075A; protein sequence p.E318K; rs149617956) in the melanoma-lineage-specific oncogene microphthalmia-associated transcription factor (MITF). Although the variant co-segregated with melanoma in some but not all cases in the family, linkage analysis of 31 families subsequently identified to carry the variant generated a log of odds (lod) score of 2.7 under a dominant model, indicating E318K as a possible intermediate risk variant. Consistent with this, the E318K variant was significantly associated with melanoma in a large Australian case-control sample. Likewise, it was similarly associated in an independent case-control sample from the United Kingdom. In the Australian sample, the variant allele was significantly overrepresented in cases with a family history of melanoma, multiple primary melanomas, or both. The variant allele was also associated with increased naevus count and non-blue eye colour. Functional analysis of E318K showed that MITF encoded by the variant allele had impaired sumoylation and differentially regulated several MITF targets. These data indicate that MITF is a melanomapredisposition gene and highlight the utility of whole-genome sequencing to identify novel rare variants associated with disease susceptibility. Cutaneous malignant melanoma is predominantly a disease of fairskinned individuals. Aetiology is complex, with environmental (mainly ultraviolet radiation exposure) and genetic factors affecting disease risk. Phenotypic risk factors, which are largely heritable, include pigmentation (fair skin, blue or green eyes, blonde or red hair), sun sensitivity, an inability to tan , high number of melanocytic naevi , or the presence of clinically atypical naevi 7 . Candidate-gene studies and genome-wide association studies (GWAS) for melanoma and these melanoma-associated phenotypes have identified several variants associated with melanoma risk in the general population . Family studies, on the other hand, have identified only two highpenetrance melanoma genes, CDKN2A (ref. 1) and CDK4 (ref. 2), accounting for a minority of genetic risk in melanoma families. As part of a larger sequencing effort to identify novel melanoma risk genes, we sequenced the genome of an affected individual from an eight-case melanoma family negative for alterations in CDKN2A or CDK4 (Fig. , FAM1) using a nanoarray-based short-read sequencingby-ligation strategy 14 . From among the 410 novel variants predicted to affect protein structure, we prioritized for follow-up a single nucleotide polymorphism (SNP) resulting in a glutamic acid to lysine substitution

Research paper thumbnail of Population-based, Case-Control-Family Design to Investigate Genetic and Environmental Influences on Melanoma Risk: Australian Melanoma Family Study

American Journal of Epidemiology, 2009

Discovering and understanding genetic risk factors for melanoma and their interactions with pheno... more Discovering and understanding genetic risk factors for melanoma and their interactions with phenotype, sun exposure, and other risk factors could lead to new strategies for melanoma control. This paper describes the Australian Melanoma Family Study, which uses a multicenter, population-based, case-control-family design. From 2001 to 2005, the authors recruited 1,164 probands including 629 cases with histopathologically confirmed, firstprimary cutaneous melanoma diagnosed before age 40 years, 240 population-based controls frequency matched for age, and 295 spouse/friend controls. Information on lifetime sun exposure, phenotype, and residence history was collected for probands and nearly 4,000 living relatives. More than 3,000 subjects donated a blood sample. Proxy-reported information was collected for childhood sun exposure and deceased relatives. Important features of this study include the population-based, family-based design; a focus on early onset disease; probands from 3 major cities differing substantially in solar ultraviolet exposure and melanoma incidence; a population at high risk because of high ultraviolet exposure and susceptible pigmentation phenotypes; population-based, spouse/friend, and sibling controls; systematic recruitment of relatives of case and control probands; self and parent reports of childhood sun exposure; and objective clinical skin examinations. The authors discuss methodological and analytical issues related to the study design and conduct, as well as the potentially novel insights the study can deliver.

Research paper thumbnail of Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

Nature Genetics, Oct 9, 2011

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

Research paper thumbnail of Common sequence variants on 20q11.22 confer melanoma susceptibility

Nature Genetics, May 18, 2008

Correspondence should be addressed to S.M.

Research paper thumbnail of Supporting Workers to Sit Less and Move More Through the Web-Based BeUpstanding Program: Protocol for a Single-Arm, Repeated Measures Implementation Study

JMIR Research Protocols, May 4, 2020

Background: The web-based BeUpstanding Champion Toolkit was developed to support work teams in ad... more Background: The web-based BeUpstanding Champion Toolkit was developed to support work teams in addressing the emergent work health and safety issue of excessive sitting. It provides a step-by-step guide and associated resources that equip a workplace representative-the champion-to adopt and deliver the 8-week intervention program (BeUpstanding) to their work team. The evidence-informed program is designed to raise awareness of the benefits of sitting less and moving more, build a supportive culture for change, and encourage staff to take action to achieve this change. Work teams collectively choose the strategies they want to implement and promote to stand up, sit less, and move more, with this bespoke and participative approach ensuring the strategies are aligned with the team's needs and existing culture. BeUpstanding has been iteratively developed and optimized through a multiphase process to ensure that it is fit for purpose for wide-scale implementation. Objective: The study aimed to describe the current version of BeUpstanding, and the methods and protocol for a national implementation trial. Methods: The trial will be conducted in collaboration with five Australian workplace health and safety policy and practice partners. Desk-based work teams from a variety of industries will be recruited from across Australia via partner-led referral pathways. Recruitment will target sectors (small business, rural or regional, call center, blue collar, and government) that are of

Research paper thumbnail of Genomewide association study identifies a new melanoma susceptibility locus at 1q21.3.Nat.Genet

Replication Sample 2 -MD Anderson Cancer Center: Association analysis of genotyped SNPs was done ... more Replication Sample 2 -MD Anderson Cancer Center: Association analysis of genotyped SNPs was done using the PLINK --logistic option 13 . The first 2 principal components were included to adjust for population structure. Replication Sample 3 -Harvard: Association analysis of genotyped SNPs was done using SAS V9.1 (SAS Institute, Cary, NC). Unconditional logistic regression was employed to calculate odds ratios (ORs) and 95% confidence intervals (CIs) adjusting for age and gender. * United States 2 samples were only typed for rs7412746 and rs3219090 using the OpenArray™ SNP Genotyping System

Research paper thumbnail of Practice of Epidemiology Population-based, Case-Control-Family Design to Investigate Genetic and Environmental Influences on Melanoma Risk Australian Melanoma Family Study

Practice of Epidemiology Population-based, Case-Control-Family Design to Investigate Genetic and Environmental Influences on Melanoma Risk Australian Melanoma Family Study

Discovering and understanding genetic risk factors for melanoma and their interactions with pheno... more Discovering and understanding genetic risk factors for melanoma and their interactions with phenotype, sun exposure, and other risk factors could lead to new strategies for melanoma control. This paper describes the Australian Melanoma Family Study, which uses a multicenter, population-based, case-control-family design. From 2001 to 2005, the authors recruited 1,164 probands including 629 cases with histopathologically confirmed, first-primary cutaneous melanoma diagnosed before age 40 years, 240 population-based controls frequency matched for age, and 295 spouse/friend controls. Information on lifetime sun exposure, phenotype, and residence history was collected for probands and nearly 4,000 living relatives. More than 3,000 subjects donated a blood sample. Proxy-reported information was collected for childhood sun exposure and deceased relatives. Important features of this study include the population-based, family-based design; a focus on early onset disease; probands from 3 majo...

Research paper thumbnail of Study Protocol for The National Implementation Trial of BeUpstanding™: A Broad-Reach Technology-Supported Program for Workers To Sit Less and Move More (Preprint)

UNSTRUCTURED Background: The online BeUpstandingTM Champion Toolkit was developed to support work... more UNSTRUCTURED Background: The online BeUpstandingTM Champion Toolkit was developed to support work teams in addressing the emergent work health and safety issue of excessive sitting. It provides a step-by-step guide and associated resources that equip a workplace representative — the “champion” — to adopt and deliver the eight-week intervention program (BeUpstanding) to their work team. The evidence-informed program has been iteratively developed and optimised through a multi-phase process to ensure that it is fit-for-purpose for wide-scale implementation. This paper describes the current version of BeUpstanding, and the methods and protocol for a national implementation trial. Methods: The trial will be conducted in collaboration with five Australian workplace health and safety policy and practice partners. Desk-based work teams from a variety of industries will be recruited from across Australia via partner-led referral pathways. Recruitment will target sectors (small business, rur...

Research paper thumbnail of Common sequence variants on 20q11.22 confer melanoma susceptibility

Nature Genetics, 2008

We conducted a genome-wide association pooling study for cutaneous melanoma and performed validat... more We conducted a genome-wide association pooling study for cutaneous melanoma and performed validation in samples totaling 2,019 cases and 2,105 controls. Using pooling, we identified a new melanoma risk locus on chromosome 20 (rs910873 and rs1885120), with replication in two further samples (combined P o 1 Â 10 À15 ). The per allele odds ratio was 1.75 (1.53, 2.01), with evidence for stronger association in early-onset cases.

Research paper thumbnail of A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

Nature, 2011

So far, two genes associated with familial melanoma have been identified, accounting for a minori... more So far, two genes associated with familial melanoma have been identified, accounting for a minority of genetic risk in families. Mutations in CDKN2A account for approximately 40% of familial cases 1 , and predisposing mutations in CDK4 have been reported in a very small number of melanoma kindreds 2 . Here we report the whole-genome sequencing of probands from several melanoma families, which we performed in order to identify other genes associated with familial melanoma. We identify one individual carrying a novel germline variant (coding DNA sequence c.G1075A; protein sequence p.E318K; rs149617956) in the melanoma-lineage-specific oncogene microphthalmia-associated transcription factor (MITF). Although the variant co-segregated with melanoma in some but not all cases in the family, linkage analysis of 31 families subsequently identified to carry the variant generated a log of odds (lod) score of 2.7 under a dominant model, indicating E318K as a possible intermediate risk variant. Consistent with this, the E318K variant was significantly associated with melanoma in a large Australian case-control sample. Likewise, it was similarly associated in an independent case-control sample from the United Kingdom. In the Australian sample, the variant allele was significantly overrepresented in cases with a family history of melanoma, multiple primary melanomas, or both. The variant allele was also associated with increased naevus count and non-blue eye colour. Functional analysis of E318K showed that MITF encoded by the variant allele had impaired sumoylation and differentially regulated several MITF targets. These data indicate that MITF is a melanomapredisposition gene and highlight the utility of whole-genome sequencing to identify novel rare variants associated with disease susceptibility. Cutaneous malignant melanoma is predominantly a disease of fairskinned individuals. Aetiology is complex, with environmental (mainly ultraviolet radiation exposure) and genetic factors affecting disease risk. Phenotypic risk factors, which are largely heritable, include pigmentation (fair skin, blue or green eyes, blonde or red hair), sun sensitivity, an inability to tan , high number of melanocytic naevi , or the presence of clinically atypical naevi 7 . Candidate-gene studies and genome-wide association studies (GWAS) for melanoma and these melanoma-associated phenotypes have identified several variants associated with melanoma risk in the general population . Family studies, on the other hand, have identified only two highpenetrance melanoma genes, CDKN2A (ref. 1) and CDK4 (ref. 2), accounting for a minority of genetic risk in melanoma families. As part of a larger sequencing effort to identify novel melanoma risk genes, we sequenced the genome of an affected individual from an eight-case melanoma family negative for alterations in CDKN2A or CDK4 (Fig. , FAM1) using a nanoarray-based short-read sequencingby-ligation strategy 14 . From among the 410 novel variants predicted to affect protein structure, we prioritized for follow-up a single nucleotide polymorphism (SNP) resulting in a glutamic acid to lysine substitution

Research paper thumbnail of Population-based, Case-Control-Family Design to Investigate Genetic and Environmental Influences on Melanoma Risk: Australian Melanoma Family Study

American Journal of Epidemiology, 2009

Discovering and understanding genetic risk factors for melanoma and their interactions with pheno... more Discovering and understanding genetic risk factors for melanoma and their interactions with phenotype, sun exposure, and other risk factors could lead to new strategies for melanoma control. This paper describes the Australian Melanoma Family Study, which uses a multicenter, population-based, case-control-family design. From 2001 to 2005, the authors recruited 1,164 probands including 629 cases with histopathologically confirmed, firstprimary cutaneous melanoma diagnosed before age 40 years, 240 population-based controls frequency matched for age, and 295 spouse/friend controls. Information on lifetime sun exposure, phenotype, and residence history was collected for probands and nearly 4,000 living relatives. More than 3,000 subjects donated a blood sample. Proxy-reported information was collected for childhood sun exposure and deceased relatives. Important features of this study include the population-based, family-based design; a focus on early onset disease; probands from 3 major cities differing substantially in solar ultraviolet exposure and melanoma incidence; a population at high risk because of high ultraviolet exposure and susceptible pigmentation phenotypes; population-based, spouse/friend, and sibling controls; systematic recruitment of relatives of case and control probands; self and parent reports of childhood sun exposure; and objective clinical skin examinations. The authors discuss methodological and analytical issues related to the study design and conduct, as well as the potentially novel insights the study can deliver.