Medicine and Health Sciences Commons^™

Human Papillomavirus And Survival Of Patients With Oropharyngeal Cancer., K Kian Ang, Jonathan Harris, Richard Wheeler, Randal Weber, David I Rosenthal, Phuc Felix Nguyen-Tân, William H Westra, Christine H Chung, Richard C Jordan, Charles Lu, Harold Kim, Rita S. Axelrod, Md, C Craig Silverman, Kevin P Redmond, Maura L Gillison

Jefferson Hospital Staff Papers and Presentations

BACKGROUND: Oropharyngeal squamous-cell carcinomas caused by human papillomavirus (HPV) are associated with favorable survival, but the independent prognostic significance of tumor HPV status remains unknown.

METHODS: We performed a retrospective analysis of the association between tumor HPV status and survival among patients with stage III or IV oropharyngeal squamous-cell carcinoma who were enrolled in a randomized trial comparing accelerated-fractionation radiotherapy (with acceleration by means of concomitant boost radiotherapy) with standard-fractionation radiotherapy, each combined with cisplatin therapy, in patients with squamous-cell carcinoma of the head and neck. Proportional-hazards models were used to compare the risk of death among patients with HPV-positive …

White Matter Diffusion Alterations In Normal Women At Risk Of Alzheimer's Disease, Charles D. Smith, Himachandra Chebrolu, Anders H. Andersen, David A. Powell, Mark A. Lovell, Shuling Xiong, Brian T. Gold

Neurology Faculty Publications

Increased white matter mean diffusivity and decreased fractional anisotropy (FA) has been observed in subjects diagnosed with mild cognitive impairment (MCI) and Alzheimer's disease (AD). We sought to determine whether similar alterations of white matter occur in normal individuals at risk of AD. Diffusion tensor images were acquired in 42 cognitively normal right-handed women with both a family history of dementia and at least one apolipoprotein E4 allele. These were compared with images from 23 normal women without either AD risk factor. Group analyses were performed using tract-based spatial statistics. Reduced FA was observed in the fronto-occipital and inferior temporal …

The Effects Of Bfgf Treatment In The Aged Brain Following Traumatic Brain Injury, Michael Zeigler

Theses and Dissertations

The mature mammalian brain continually generates new neurons in the subventricular zone and hippocampus throughout life. Adult neurogenesis in the hippocampus is associated with hippocampal-dependent learning and memory function. During aging, this endogenous neurogenic potential is reduced which is accompanied by decreased cognitive function seen in the aging population. We have previously found that the injured adult brain shows heightened levels of endogenous neurogenesis and this response is associated with innate cognitive recovery. We have also found that basic fibroblast growth factor (bFGF), a potent neurotrophic polypeptide, can enhance injury-induced hippocampal neurogenesis and improve cognitive recovery following TBI. In this …

Prevalence Of Obesity, Type Ii Diabetes Mellitus, Hyperlipidemia, And Hypertension In The United States: Findings From The Ge Centricity Electronic Medical Record Database., Albert G Crawford, Christine Cote, Joseph Couto, Mehmet Daskiran, Candace Gunnarsson, Kara Haas, Sara Haas, Somesh C Nigam, Rob Schuette

College of Population Health Faculty Papers

This study analyzed GE Centricity Electronic Medical Record (EMR) data to examine the effects of body mass index (BMI) and obesity, key risk factor components of metabolic syndrome, on the prevalence of 3 chronic diseases: type II diabetes mellitus, hyperlipidemia, and hypertension. These chronic diseases occur with high prevalence and impose high disease burdens. The rationale for using Centricity EMR data is 2-fold. First, EMRs may be a good source of BMI/obesity data, which are often underreported in surveys and administrative databases. Second, EMRs provide an ideal means to track variables over time and, thus, allow longitudinal analyses of relationships …

Comparison Of Ge Centricity Electronic Medical Record Database And National Ambulatory Medical Care Survey Findings On The Prevalence Of Major Conditions In The United States., Albert G. Crawford, Christine Cote, Joseph Couto, Mehmet Daskiran, Candace Gunnarsson, Kara Haas, Sara Haas, Somesh C Nigam, Rob Schuette, Joseph Yaskin

College of Population Health Faculty Papers

The study objective was to facilitate investigations by assessing the external validity and generalizability of the Centricity Electronic Medical Record (EMR) database and analytical results to the US population using the National Ambulatory Medical Care Survey (NAMCS) data and results as an appropriate validation resource. Demographic and diagnostic data from the NAMCS were compared to similar data from the Centricity EMR database, and the impact of the different methods of data collection was analyzed. Compared to NAMCS survey data on visits, Centricity EMR data shows higher proportions of visits by younger patients and by females. Other comparisons suggest more acute …

Splenic Infarction: An Update On William Osler's Observations., Yaacov R Lawrence, Ma Mbbs Mrcp, Russell Pokroy, Mb Bch, Daniel Berlowitz, Mb Bch, Dvora Aharoni, Md, Daniel Hain, Md, Gabriel S Breuer, Md

Department of Radiation Oncology Faculty Papers

BACKGROUND: Osler taught that splenic infarction presents with left upper abdominal quadrant pain, tenderness and swelling accompanied by a peritoneal friction rub. Splenic infarction is classically associated with bacterial endocarditis and sickle cell disease.

OBJECTIVES: To describe the contemporary experience of splenic infarction.

METHODS: We conducted a chart review of inpatients diagnosed with splenic infarction in a Jerusalem hospital between 1990 and 2003.

RESULTS: We identified 26 cases with a mean age of 52 years. Common causes were hematologic malignancy (six cases) and intracardiac thrombus (five cases). Only three cases were associated with bacterial endocarditis. In 21 cases the splenic …

Polymorphisms Of The Dna Repair Gene Mgmt And Risk And Progression Of Head And Neck Cancer, Zhengdong Zhang, Luo Wang, Sheng Wei, Zhensheng Liu, Li-E Wang, Erich M Sturgis, Qingyi Wei

Faculty, Staff and Student Publications

Methylating agents are involved in carcinogenesis, and the DNA repair protein O(6)-methylguanine-DNA methyltransferase (MGMT) removes methyl group from O(6)-methylguanine. Genetic variation in DNA repair genes has been shown to contribute to susceptibility to squamous cell carcinoma of the head and neck (SCCHN). We hypothesize that MGMT polymorphisms are associated with risk of SCCHN. In a hospital-based case-control study of 721 patients with SCCHN and 1234 cancer-free controls frequency-matched by age, sex and ethnicity, we genotyped four MGMT polymorphisms, two in exon 3, 16195C>T and 16286C>T and two in the promoter region, 45996G>T and 46346C>A. We found …

Ask A Different Question, Get A Different Answer: Why Living Wills Are Poor Guides To Care Preferences At The End Of Life., Laraine Winter, Susan M Parks, James J Diamond

Center for Applied Research on Aging and Health Research Papers

CONTEXT: Living wills have a poor record of directing care at the end of life, as a copious literature attests. Some speculation centers on the questionable correspondence between the scenario described in living wills versus the real-life circumstances that typically arise at the end of life.

OBJECTIVE: To assess the strength of association between responses to a standard living will question and preferences for treatments in six end-of-life scenarios.

DESIGN: Cross-sectional.

SETTING: Telephone interviews.

PARTICIPANTS: Two hundred two community-dwelling men and women 70 years of age or older in the greater Philadelphia area.

MAIN OUTCOME MEASURES: Strength of preferences for …

Enhanced Psychosocial Well-Being Following Participation In A Mindfulness-Based Stress Reduction Program Is Associated With Increased Natural Killer Cell Activity., Carolyn Y Fang, Diane K Reibel, Margaret L Longacre, Steven Rosenzweig, Donald E Campbell, Steven D Douglas

Marcus Institute of Integrative Health Faculty Papers

BACKGROUND: Mindfulness-based stress reduction (MBSR) programs have consistently been shown to enhance the psychosocial well-being of participants. Given the well-established association between psychosocial factors and immunologic functioning, it has been hypothesized that enhanced psychosocial well-being among MBSR participants would be associated with corresponding changes in markers of immune activity.

OBJECTIVES: The objectives of this study were to examine changes in psychosocial and immunologic measures in a heterogeneous patient sample following participation in a MBSR program.

DESIGN: A single-group, pretest/post-test design was utilized.

SETTING: The intervention was conducted at an academic health center.

SUBJECTS: This pilot study involved 24 participants (aged …

Higher Bmc And Areal Bmd In Children And Grandchildren Of Individuals With Hip Or Knee Replacement, Bonny L. Specker, Howard E. Wey, Teresa L. Binkley, Tianna M. Beare, Eric P. Smith, Frank Rauch

Ethel Austin Martin Program Publications

The relationship between aBMD and osteoarthritis (OA) remains unclear. We compared aBMD, BMC and bone size among children and grandchildren of Hutterites with hip or knee replacement (n=23 each) to children and grandchildren of age- and sex-matched controls (178 children and 267 grandchildren). There were no differences in anthropometric measures or activity levels between case and control probands, but femoral neck (FN) and spine (LS) aBMD and Z-scores were greater in cases than controls (0.89 vs. 0.80 g/cm2; 1.15 vs. 1.03 g/cm2; 1.5 vs. 0.8; 2.4 vs. 1.2: all por =2 years post-menarcheal or males> or =18 years): 33 were …

An Investigation Of Depression And Fatigue Post West Nile Virus Infection., Patti J Berg, Stacy Smallfield, Lana Svien

Journal Articles: Occupational Therapy

INTRODUCTION: The purpose of this study was to examine depression and fatigue in individuals with a seropositive confirmed history of West Nile virus (WNV) infection.

METHODS: The South Dakota State Epidemiologist sent 218 letters inviting residents with a diagnosis of WNV to participate in the study. Forty-five subjects were tested. An occupational therapist and a physical therapist met with each participant to assess performance parameters, including depression and fatigue levels. Subjects (n=42) completed the Revised Center for Epidemiologic Studies Depression Scale (CES-D) during the assessment. The Modified Fatigue Impact Scale (MFIS) was sent to participants as a follow-up questionnaire, and …

S9511: A Southwest Oncology Group Phase Ii Study Of Trimetrexate, 5-Fluorouracil, And Leucovorin In Unresectable Or Metastatic Adenocarcinoma Of The Stomach, Charles D Blanke, Kari Chansky, Kathy L Christman, Scott A Hundahl, Brian F Issell, Peter J Van Veldhuizen, G Thomas Budd, James L Abbruzzese, John S Macdonald

Faculty, Staff and Student Publications

OBJECTIVE: The primary objective of this trial was to evaluate the response rate for trimetrexate in conjunction with 5-FU and leucovorin (LV) (= TFL) in the treatment of advanced gastric cancer in a phase II, cooperative group setting.

METHODS: Patients with locally advanced, unresectable, or metastatic adenocarcinoma of the stomach received trimetrexate 110 mg/m IV over 60 minutes day 1, followed by 5-FU 500 mg/m IV bolus and LV 200 mg/m IV over 60 minutes day 2, followed by oral LV 15 mg every 6 hours x 7 doses, all weekly for 6 weeks followed by 2 weeks of rest, …

Schedule For Ct Image Guidance In Treating Prostate Cancer With Helical Tomotherapy., G Beldjoudi, S Yartsev, G Bauman, Jerry J. Battista Dr., Jacob Van Dyk

Oncology Publications

The aim of this study was to determine the effect of reducing the number of image guidance sessions and patient-specific target margins on the dose distribution in the treatment of prostate cancer with helical tomotherapy. 20 patients with prostate cancer who were treated with helical tomotherapy using daily megavoltage CT (MVCT) imaging before treatment served as the study population. The average geometric shifts applied for set-up corrections, as a result of co-registration of MVCT and planning kilovoltage CT studies over an increasing number of image guidance sessions, were determined. Simulation of the consequences of various imaging scenarios on the dose …

Renin-Angiotensin System Activation Correlates With Microvascular Dysfunction In A Prospective Cohort Study Of Clinical Sepsis, Kevin C. Doerschug, Angela S. Delsing, Gregory A. Schmidt, Alix Ashare

Dartmouth Scholarship

Microvascular dysregulation characterized by hyporesponsive vessels and heterogeneous bloodflow is implicated in the pathogenesis of organ failure in sepsis. The renin-angiotensin system (RAS) affects the microvasculature, yet the relationships between RAS and organ injury in clinical sepsis remain unclear. We tested our hypothesis that systemic RAS mediators are associated with dysregulation of the microvasculature and with organ failure in clinical severe sepsis.

Indirect Costs Associated With Surgery For Low Back Pain-A Secondary Analysis Of Clinical Trial Data., Reginald Fayssoux, Neil I Goldfarb, Alexander R Vaccaro, James Harrop

College of Population Health Faculty Papers

This study examines the indirect costs associated with surgery for axial low back pain using data obtained from a prospective multicenter clinical trial that compared Charité artificial disc replacement with anterior lumbar interbody fusion using iliac crest bone graft. While 75% of study subjects reported full- or part-time employment prior to surgery, this percentage dropped to 45% at 6 weeks postoperatively. Return to preoperative employment levels occurred at approximately 6 months postoperatively. Two years after surgery, employment levels were 16% higher than preoperative levels. Lost productivity related to absenteeism resulted in lost wages averaging $2884 per patient during the first …

Humoral Immunity In Tuberculin Skin Test Anergy And Its Role In High-Risk Persons Exposed To Active Tuberculosis, Liliana Encinales, Joaquin Zuñiga, Julio Granados-Montiel, Maria Yunis, Julio Granados, Ingrid Almeciga, Olga Clavijo, Carlos Awad, Vilma Collazos, María Inés Vargas-Rojas, José Luis Bañales-Mendez, Lilia Vazquez-Castañeda, Joel N Stern, Viviana Romero, Masha Fridkis-Hareli, Masha Frindkis-Hareli, Daniel Terreros, Marcelo Fernandez-Viña, Edmond J Yunis

Faculty, Staff and Student Publications

The most common test to identify latent tuberculosis is the tuberculin skin test that detects T cell responses of delayed type hypersensitivity type IV. Since it produces false negative reactions in active tuberculosis or in high-risk persons exposed to tuberculosis patients as shown in this report, we studied antibody profiles to explain the anergy of such responses in high-risk individuals without active infection. Our results showed that humoral immunity against tuberculin, regardless of the result of the tuberculin skin test is important for protection from active tuberculosis and that the presence of high antibody titers is a more reliable indicator …

Sputum Neutrophils As A Biomarker In Copd: Findings From The Eclipse Study, Dave Singh, Lisa Edwards, Ruth Tal-Singer, Stephen I. Rennard

Journal Articles: Pulmonary & Critical Care Med

INTRODUCTION: The percentage of neutrophils in sputum are increased in COPD patients, and may therefore be a biomarker of airway inflammation. We studied the relationships between sputum neutrophils and FEV1, health status, exacerbation rates, systemic inflammation and emphysema, and long term variability at 1 year.

METHODS: Sputum samples were obtained from 488 COPD patients within the ECLIPSE cohort. 359 samples were obtained at baseline, and 297 after 1 year. 168 subjects provided samples at both visits. Serum interleukin-6 (IL-6), IL-8, surfactant protein D and C-reactive protein levels were measured by immunoassays. Low-dose CT scans evaluated emphysema.

RESULTS: Sputum neutrophil % …

Mir-107 Is Reduced In Alzheimer's Disease Brain Neocortex: Validation Study, Peter T. Nelson, Wang-Xia Wang

Pathology and Laboratory Medicine Faculty Publications

MiR-107 is a microRNA (miRNA) that we reported previously to have decreased expression in the temporal cortical gray matter early in the progression of Alzheimer's disease (AD). Here we study a new group of well-characterized human temporal cortex samples (N=19). MiR-107 expression was assessed, normalized to miR-124 and let-7a. Correlation was observed between decreased miR-107 expression and increased neuritic plaque counts (P< 0.05) and neurofibrillary tangle counts (P< 0.02) in adjacent brain tissue. Adjusted miR-107 and BACE1 mRNA levels tended to correlate negatively (trend with regression P< 0.07). In sum, miR-107 expression tends to be lower relative to other miRNAs as AD progresses.

Expression Of The Intestinal Biomarkers Guanylyl Cyclase C And Cdx2 In Poorly Differentiated Colorectal Carcinomas., Brody Winn, Rosemarie Tavares, Andres Matoso, Lelia Noble, Jacqueline Fanion, Scott A Waldman, Murray B Resnick

Department of Pharmacology and Experimental Therapeutics Faculty Papers

Guanylyl cyclase C, a receptor for bacterial diarrheagenic enterotoxins, is expressed selectively by intestinal epithelium and is an endogenous downstream target of CDX2. The expression of Guanylyl cyclase C is preserved throughout the adenoma/carcinoma sequence in the colorectum. Detection of Guanylyl cyclase C expression by reverse transcriptase-polymerase chain reaction is currently being validated as a technique to identify occult lymph node metastases in patients with colorectal cancer and for circulating cells in the blood for postoperative surveillance. Although Guanylyl cyclase C is widely expressed by well-differentiated colorectal cancer, its expression in poorly differentiated colorectal cancer has not been evaluated. A …

Characterisation Of Copd Heterogeneity In The Eclipse Cohort, Alvar Agusti, Peter M.A. Calverley, Bartolome Celli, Harvey O. Coxson, Lisa D. Edwards, David A. Lomas, William Macnee, Bruce E. Miller, Steve I. Rennard, Edwin K. Silverman, Ruth Tal-Singer, Emiel Wouters, Julie C. Yates, Jørgen Vestbo, The Evaluation Of Copd Longitudinally To Identify Predictive Surrogate Endpoints (Eclipse) Investigators

Journal Articles: Pulmonary & Critical Care Med

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is a complex condition with pulmonary and extra-pulmonary manifestations. This study describes the heterogeneity of COPD in a large and well characterised and controlled COPD cohort (ECLIPSE).

METHODS: We studied 2164 clinically stable COPD patients, 337 smokers with normal lung function and 245 never smokers. In these individuals, we measured clinical parameters, nutritional status, spirometry, exercise tolerance, and amount of emphysema by computed tomography.

RESULTS: COPD patients were slightly older than controls and had more pack years of smoking than smokers with normal lung function. Co-morbidities were more prevalent in COPD patients than in …

Easing The Transition Into Long Term Care: An Occupation Based Approach, Sarah Boroos, Janel Ludenia

Occupational Therapy Capstones

The purpose of this scholarly project is to present methods to help ease the transition process for older adults into a long term care (LTC) facility using a meaningful occupation based approach. An estimated .9% of the community dwelling individuals versus 72% of long term care residents exhibit some form of depression (Harris & Haffer, 2003; Harris, 2007). Consequently residents experience decrease functional status and decreased quality of life. A comprehensive literature review of adults' transitioning into LTC facilities was conducted using PubMed, Ebsco, Psychlnfo, Scopus, OT search, CINAHL, AJOT, textbooks, and the internet. The literature supp0l1s the need for …

Elderly In Prison: A Programming Protocol, Chelsey Hunt, Sarah Janke

Occupational Therapy Capstones

The current U.S. correctional system is structured for the young, well, able-bodied prisoner and does not take into consideration the extensive needs of elderly inmates. The number of elderly inmate has been steadily increasing and is going to continue to rise with the increase of age expectancy of the average American and changes in in sentencing policies that increase the length of stay in prisons (Potter, Cashin, Chenoweth, Jeon, 2007; The Sentencing Project, 2005). Currently elderly inmates make up 12% of the federal prison population (Mauer, King, Young, 2004, p. 24).

An extensive literature review was conducted to determine the …

An Occupational Therapy Program To Help Community Dwelling Seniors Age In Place, Amy Lundberg, Kayla Novacek

Occupational Therapy Capstones

Purpose: It is estimated that by 2030, one in five people in the United States will be 65 or older (US Census Bureau, 2008). An aging in place initiative has come to the forefront of health care to help seniors cope with the age related challenges, allowing seniors to experience productive aging in their own homes. The purpose of this scholarly project was to develop an occupation based aging in place wellness program for community dwelling elderly.

Methods: A literature review was conducted to identify the current challenges associated with aging. In addition, the literature review identified strengths and limitations …

Evidence-Based Intervention For Sleep Disturbance In Healthy Elderly Individuals, Sarah Gregory, Heather Hoffman

Occupational Therapy Capstones

Elderly individuals have a predisposition to experiencing sleep disorder, yet many remain untreated. Consequences of untreated sleep disturbance may result in decreased cognitive functioning, lowered perceived quality of life, and loss of independence. A literature review describes the definition of sleep, consequences of sleep disorder, sleep disturbance in the elderly population, intervention efficacy, principles of gerogogy, and the role of occupational therapy in sleep intervention.

The scholarly project presents a manual designed for use with well-elderly populations and intended to be guided and/or distributed by occupational therapists. The manual is entitled “Take Control of Your Sleep: An Occupational Therapy Manual …

The Adl Of Sexuality: A Guide For Occupational Therapists For Elderly Clients, Autumn Edmundson, Amber Lafrenz

Occupational Therapy Capstones

Purpose: The purpose of this scholarly project was to develop a guide that would address the assessments, treatment/interventions, and discharge planning process regarding sexual health/sexuality with an elderly client. Through the use of the guide and accompanying resources it is assumed that occupational therapists will have an increased level of comfort, knowledge, and competence. This is important as Couloumbis and Miller (1994) study indicated that occupational therapists that received formal education (academically or clinical practice) addressed sexuality in the elderly 27.8% more than occupational therapists who did not have any educational experience.

Methodology: An in depth literature review was conducted …

Differentiating Dementia From Mental Illness In The Elderly: An Occupational Therapy Process, Michelle Halsted

Occupational Therapy Capstones

The purpose of this product is to provide those persons admitted to a hospital setting with an unclear diagnosis the opportunity to be efficiently and accurately diagnosed, thus allowing proper treatment, medications, and placement, if needed. Often, . there is confusion amongst professionals in the treatment team as to whether an older adult may have a developing dementia versus symptoms of a mental illness. Through the evaluation process, individuals will engage in a balance of evaluative activities that may improve physical, social, emotional, spiritual, occupational, and cognitive focus areas. These evaluations are primarily based on Allen's Cognitive Model and The …

Social Support In An Internet Weight Loss Community, Kevin O Hwang, Allison J Ottenbacher, Angela P Green, M Roseann Cannon-Diehl, Oneka Richardson, Elmer V Bernstam, Eric J Thomas

Faculty, Staff and Student Publications

Purpose: To describe social support for weight loss shared by members of a large Internet weight loss community.

Methods: We conducted a mixed-methods study with surveys (n=193) and interviews (n=13) of community members along with a content analysis of discussion forum messages (n=1924 messages). Qualitative data were analyzed for social support themes.

Results: Survey respondents were primarily white (91.4%) and female (93.8%) with mean age 37.3 years and mean body mass index 30.9. They used forums frequently, with 56.8% reading messages, 36.1% replying to messages, and 18.5% posting messages to start a discussion related to weight loss on a daily …

Does Diabetes Mellitus Influence Pathologic Complete Response And Tumor Downstaging After Neoadjuvant Chemoradiation For Esophageal And Gastroesophageal Cancer? A Two-Institution Report., Shayna L. Showalter, Ernest L. Rosato, P Rani Anne, Walter Scott, Edith Mitchell, Adam C. Berger

Department of Surgery Faculty Papers

BACKGROUND: Esophageal carcinoma is an aggressive disease that is often treated with neoadjuvant therapy followed by surgical resection. Diabetes mellitus (DM) has been associated with reduced efficacy of chemoradiation (CRT) in other gastrointestinal cancers. The goal of this study was to determine if DM affects response to neoadjuvant CRT in the management of gastroesophageal carcinoma.

METHODS: We retrospectively reviewed the esophageal cancer patient databases and subsequently analyzed those patients who received neoadjuvant CRT followed by surgical resection at two institutions, Thomas Jefferson University (TJUH) and Fox Chase Cancer Center (FCCC). Comparative analyses of rates of pathologic complete response rate (pCR) …

Effects Of Caregiver Burden And Satisfaction On Affect Of Older End-Stage Renal Disease Patients And Their Spouses, Maureen Wilson-Genderson, Rachel A Pruchno, Francine P Cartwright

Rowan-Virtua School of Osteopathic Medicine Departmental Research

We examined the extent to which a 2-factor model of affect explains how the burdens and satisfactions experienced by caregivers influence their own well-being and that of the spouses for whom they provide care. Using data from 315 older patients with end-stage renal disease and their spouses, we extended tests of Lawton et al.'s (1991) 2-factor model both longitudinally and dyadically. Multilevel modeling analyses partially support the 2-factor model. Consistent with the model, mean caregiver burden has a stronger effect on both caregiver and patient negative affect than does mean caregiver satisfaction. Contrary to the model, mean caregiver satisfaction has …

Hla-Dpb1 And Dpb2 Are Genetic Loci For Systemic Sclerosis: A Genome-Wide Association Study In Koreans With Replication In North Americans, Xiaodong Zhou, Jong Eun Lee, Frank C Arnett, Momiao Xiong, Min Young Park, Yeon Kyeong Yoo, Eun Soon Shin, John D Reveille, Maureen D Mayes, Jin Hyun Kim, Ran Song, Ji Yong Choi, Ji Ah Park, Yun Jong Lee, Eun Young Lee, Yeong Wook Song, Eun Bong Lee

Faculty, Staff and Student Publications

OBJECTIVE: To identify systemic sclerosis (SSc) susceptibility loci via a genome-wide association study.

METHODS: A genome-wide association study was performed in 137 patients with SSc and 564 controls from Korea using the Affymetrix Human SNP Array 5.0. After fine-mapping studies, the results were replicated in 1,107 SSc patients and 2,747 controls from a US Caucasian population.

RESULTS: The single-nucleotide polymorphisms (SNPs) (rs3128930, rs7763822, rs7764491, rs3117230, and rs3128965) of HLA-DPB1 and DPB2 on chromosome 6 formed a distinctive peak with log P values for association with SSc susceptibility (P=8.16x10(-13)). Subtyping analysis of HLA-DPB1 showed that DPB1*1301 (P=7.61x10(-8)) and DPB1*0901 (P=2.55x10(-5)) were …