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Fulltext Somatic copy-neutral loss of heterozygosity and copy number abnormalities in Malaysian sporadic colorectal carcinoma patients

Yam YY, Hoh BP, Othman NH, Hassan S, Yahya MM, Zakaria Z, et al.

Genet. Mol. Res., 2013;12(1):319-27.
PMID: 23420356 DOI: 10.4238/2013.February.7.1

Colorectal cancer is one of the most common cancers in many countries, including Malaysia. The accumulation of genomic alterations is an important feature of colorectal carcinogenesis. A better understanding of the molecular events underlying the stages of colorectal carcinogenesis might be helpful in the detection and management of the disease. We used a commercially available single-nucleotide polymorphism genotyping array to detect both copy number abnormalities (CNAs) and copy-neutral loss of heterozygosity (LOH) in sporadic colorectal carcinomas. Matched tumor and normal tissues of 13 colorectal carcinomas (Dukes' stages A-D) were analyzed using a 250K single nucleotide polymorphism array. An additional assay was performed to determine the microsatellite instability status by using the National Cancer Institute-recommended BAT-26 panel. In general, copy number gain (92.3%) was most common, followed by copy number loss (53.8%) and copy-neutral LOH (46.2%). Frequent CNAs of gains and losses were observed on chromosomes 7p, 8, 13q, 17p, 18q, and 20q, and copy-neutral LOH was observed on chromosomes 2, 6, 12, 13q, 14q, 17, 20p, 19q, and 22q. Even though genomic alterations are associated with colorectal cancer progression, our results showed that DNA CNAs and copy-neutral LOH do not reflect disease progression in at least 50% tumors. Copy-neutral LOH was observed in both early and advanced tumors, which favors the involvement of these genomic alterations in the early stages of tumor development.

Matched MeSH terms: Asian Continental Ancestry Group/genetics*
Fulltext XPC Lys939Gln polymorphism, smoking and risk of sporadic colorectal cancer among Malaysians

Ahmad Aizat AA, Siti Nurfatimah MS, Aminudin MM, Ankathil R

World J Gastroenterol, 2013 Jun 21;19(23):3623-8.
PMID: 23801864 DOI: 10.3748/wjg.v19.i23.3623

To investigate the risk association of xeroderma pigmentosum group C (XPC) Lys939Gln polymorphism alone and in combination with cigarette smoking on colorectal cancer (CRC) predisposition.

Matched MeSH terms: Asian Continental Ancestry Group/genetics*
Fulltext An Evaluation of Commonly Used Surrogate Baseline Creatinine Values to Classify AKI During Acute Infection

Cooper DJ, Plewes K, Grigg MJ, Patel A, Rajahram GS, William T, et al.

Kidney Int Rep, 2021 Mar;6(3):645-656.
PMID: 33732979 DOI: 10.1016/j.ekir.2020.12.020

Introduction: Classification of acute kidney injury (AKI) requires a premorbid baseline creatinine, often unavailable in studies in acute infection.
Methods: We evaluated commonly used surrogate and imputed baseline creatinine values against a "reference" creatinine measured during follow-up in an adult clinical trial cohort. Known AKI incidence (Kidney Disease: Improving Global Outcomes [KDIGO] criteria) was compared with AKI incidence classified by (1) back-calculation using the Modification of Diet in Renal Disease (MDRD) equation with and without a Chinese ethnicity correction coefficient; (2) back-calculation using the Chronic Kidney Disease-Epidemiology Collaboration (CKD-EPI) equation; (3) assigning glomerular filtration rate (GFR) from age and sex-standardized reference tables; and (4) lowest measured creatinine during admission. Back-calculated distributions were performed using GFRs of 75 and 100 ml/min.
Results: All equations using an assumed GFR of 75 ml/min underestimated AKI incidence by more than 50%. Back-calculation with CKD-EPI and GFR of 100 ml/min most accurately predicted AKI but misclassified all AKI stages and had low levels of agreement with true AKI diagnoses. Back-calculation using MDRD and assumed GFR of 100 ml/min, age and sex-reference GFR values adjusted for good health, and lowest creatinine during admission performed similarly, best predicting AKI incidence (area under the receiver operating characteristic curves [AUC ROCs] of 0.85, 0.87, and 0.85, respectively). MDRD back-calculation using a cohort mean GFR showed low total error (22%) and an AUC ROC of 0.85.
Conclusion: Current methods for estimating baseline creatinine are large sources of potential error in acute infection studies. Preferred alternatives include MDRD equation back-calculation with a population mean GFR, age- and sex-specific GFR values corrected for "good health," or lowest measured creatinine. Studies using surrogate baseline creatinine values should report specific methodology.

Matched MeSH terms: Asian Continental Ancestry Group
Serological evidence of schistosomiasis among Orang Asli from three areas of Peninsular Malaysia

Greer GJ, Anuar H

Southeast Asian J. Trop. Med. Public Health, 1984 Sep;15(3):303-12.
PMID: 6523170

Using ELISA and COPT diagnostic tests, serological evidence of Malaysian schistosomiasis was discovered among Orang Asli populations from three areas in Peninsular Malaysia. Serum samples collected in 1975 indicated an ELISA-positive prevalence of 25% and a COPT prevalence of 11% from Pos Iskandar, Pahang and an ELISA prevalence of 13% and a COPT of 4% from Bukit Lanjan, Selangor. Resurveys at these site in 1982-1984 showed a continued presence of serological positive individuals but prevalence rates were markedly lower: 7% and 1% for ELISA and 4% and 2% for COPT at Pos Iskandar and Bukit Lanjan respectively. Snail hosts were not found at either site. The source of infection for persons living in these lowland areas remains unknown. In a third area, Kuala Tahan, Pahang, located in the foothills of the central mountain range, foci of transmission have been found near to Orang Asli settlements. The serological prevalence rate among Negrito Orang Asli in that study area was 9% for ELISA and 4% for COPT. Thirty-three of 36 COPT-positive sera produced vacuolated bleb precipates and in 31 these were the only reactions seen. The high percentage of positives producing only these precipates suggests that among Orang Asli schistosomiasis patients such reactions are not an indication of recently acquired infection as has been reported for schistosomiasis patients in the Philippines.

Matched MeSH terms: Asian Continental Ancestry Group*
Fulltext Higher Dietary Cost Is Associated with Higher Diet Quality: A Cross-Sectional Study among Selected Malaysian Adults

Pondor I, Gan WY, Appannah G

Nutrients, 2017 Sep 16;9(9).
PMID: 28926947 DOI: 10.3390/nu9091028

Food price is a determining factor of food choices; however its relationship with diet quality is unclear in Malaysia. This study aimed to examine socio-economic characteristics and daily dietary cost (DDC) in relation to diet quality in the state of Selangor, Malaysia. Dietary intake was assessed using a Food Frequency Questionnaire (FFQ) and diet quality was estimated using a Malaysian Healthy Eating Index (M-HEI). DDC in Malaysian Ringgit (RM) was calculated from dietary intake and national food prices. Linear regression models were fitted to determine associations between DDC and M-HEI scores and predictors of diet quality. The mean M-HEI score of respondents was 61.31 ± 10.88 and energy adjusted DDC was RM10.71/2000 kcal (USD 2.49). The highest quintile of adjusted DDC had higher M-HEI scores for all respondents (Q1: 57.14 ± 10.07 versus Q5: 63.26 ± 11.54, p = 0.001). There were also positive associations between DDC and M-HEI scores for fruits (p < 0.001) and vegetables (p = 0.017) for all respondents. Predictors of diet quality included carbohydrate (β = 0290; p < 0.001) and fat intakes (β = -0.242; p < 0.001) and energy adjusted DDC (β = 0.196; p < 0.001). Higher dietary cost is associated with healthy eating among Malaysian adults.

Matched MeSH terms: Asian Continental Ancestry Group
Sarcopenia in Asia: consensus report of the Asian Working Group for Sarcopenia

Chen LK, Liu LK, Woo J, Assantachai P, Auyeung TW, Bahyah KS, et al.

J Am Med Dir Assoc, 2014 Feb;15(2):95-101.
PMID: 24461239 DOI: 10.1016/j.jamda.2013.11.025

Sarcopenia, a newly recognized geriatric syndrome, is characterized by age-related decline of skeletal muscle plus low muscle strength and/or physical performance. Previous studies have confirmed the association of sarcopenia and adverse health outcomes, such as falls, disability, hospital admission, long term care placement, poorer quality of life, and mortality, which denotes the importance of sarcopenia in the health care for older people. Despite the clinical significance of sarcopenia, the operational definition of sarcopenia and standardized intervention programs are still lacking. It is generally agreed by the different working groups for sarcopenia in the world that sarcopenia should be defined through a combined approach of muscle mass and muscle quality, however, selecting appropriate diagnostic cutoff values for all the measurements in Asian populations is challenging. Asia is a rapidly aging region with a huge population, so the impact of sarcopenia to this region is estimated to be huge as well. Asian Working Group for Sarcopenia (AWGS) aimed to promote sarcopenia research in Asia, and we collected the best available evidences of sarcopenia researches from Asian countries to establish the consensus for sarcopenia diagnosis. AWGS has agreed with the previous reports that sarcopenia should be described as low muscle mass plus low muscle strength and/or low physical performance, and we also recommend outcome indicators for further researches, as well as the conditions that sarcopenia should be assessed. In addition to sarcopenia screening for community-dwelling older people, AWGS recommends sarcopenia assessment in certain clinical conditions and healthcare settings to facilitate implementing sarcopenia in clinical practice. Moreover, we also recommend cutoff values for muscle mass measurements (7.0 kg/m(2) for men and 5.4 kg/m(2) for women by using dual X-ray absorptiometry, and 7.0 kg/m(2) for men and 5.7 kg/m(2) for women by using bioimpedance analysis), handgrip strength (<26 kg for men and <18 kg for women), and usual gait speed (<0.8 m/s). However, a number of challenges remained to be solved in the future. Asia is made up of a great number of ethnicities. The majority of currently available studies have been published from eastern Asia, therefore, more studies of sarcopenia in south, southeastern, and western Asia should be promoted. On the other hand, most Asian studies have been conducted in a cross-sectional design and few longitudinal studies have not necessarily collected the commonly used outcome indicators as other reports from Western countries. Nevertheless, the AWGS consensus report is believed to promote more Asian sarcopenia research, and most important of all, to focus on sarcopenia intervention studies and the implementation of sarcopenia in clinical practice to improve health care outcomes of older people in the communities and the healthcare settings in Asia.

Matched MeSH terms: Asian Continental Ancestry Group
The immunohistochemistry signature of mismatch repair (MMR) proteins in a multiethnic Asian cohort with endometrial carcinoma

Woo YL, Cheah PL, Shahruddin SI, Omar SZ, Arends M

Int J Gynecol Pathol, 2014 Nov;33(6):554-9.
PMID: 25272293 DOI: 10.1097/PGP.0000000000000099

Endometrial cancer is the most common gynecologic cancer in developed countries and is rising in incidence globally. Although the 5-year survival rates are >80%, factors beyond conventional pathologic features that predict clinical outcomes are still being elucidated. The aims of this study were to define the prevalence and associations of deficient mismatch repair (dMMR) protein expression (MLH1, MSH2, MSH6, PMS2) by immunohistochemistry in a multiethnic Southeast Asian cohort with endometrioid endometrial cancer. A total of 77 patients with adequate formalin-fixed paraffin-embedded specimens were identified. The sections were stained in 2 centers for 4 MMR proteins and examined by 2 independent specialist histopathologists. The mean age for the cohort was 58.6 yr, with 19.4% (15/77) of patients' cancers showing loss of 2 MMR proteins. All 13 cancers with absent MLH1 showed PMS2 loss (13/15), whereas absent MSH2 correlated with MHS6 loss (2/15). There were no significant differences for dMMR cases in age, body mass index, histopathologic characteristics, and clinical outcomes. In dMMR cases, an overrepresentation of patients of Indian ethnic origin was observed compared with Chinese and Malays. These findings suggest that dMMR protein expression in a Southeast Asian endometrial cancer cohort does not correlate with disease outcomes.

Matched MeSH terms: Asian Continental Ancestry Group
Paraoxonase 1 status in keratoconus: a preliminary study of activity and polymorphism

Poh R, Tan JA, Deva JP, Poo D, Yong Y, Arjunan S

West Indian Med J, 2012 Sep;61(6):569-73.
PMID: 23441349

To determine the activity of paraoxonase 1 (PON1) in keratoconus in a Malaysian population in comparison with non-keratoconic subjects.

Matched MeSH terms: Asian Continental Ancestry Group
Fulltext p53 and p21/WAF-1 overexpressions in prostatic adenocarcinoma

Wan Muhaizan WM, Ahmad PK, Phang KS, Arni T

Malays J Pathol, 2006 Dec;28(2):93-9.
PMID: 18376798 MyJurnal

This study was carried out to determine the role of p53 and p21 in the pathogenesis of prostatic adenocarcinoma and their association with tumour grade.

Matched MeSH terms: Asian Continental Ancestry Group/ethnology
Risk of colorectal adenomas in a multiethnic Asian patient population: race does not matter

Rajendra S, Ho JJ, Arokiasamy J

J Gastroenterol Hepatol, 2005 Jan;20(1):51-5.
PMID: 15610446

Ethnic differences have been reported for colorectal polyps and large bowel cancer; although the supporting data is weak and insufficient to draw firm conclusions.

Matched MeSH terms: Asian Continental Ancestry Group*
Fulltext Exploration of risk taking behaviors and perceived susceptibility of colorectal cancer among Malaysian adults: a community based cross-sectional study

Al-Dubai SA, Ganasegeran K, Alabsi AM, Shah SA, Razali FM, Arokiasamy JT

BMC Public Health, 2013 Oct 07;13:930.
PMID: 24093502 DOI: 10.1186/1471-2458-13-930

BACKGROUND: Perceived susceptibility to an illness has been shown to affect Health-risk behavior. The objective of the present study was to determine the risk taking behaviors and the demographic predictors of perceived susceptibility to colorectal cancer in a population-based sample.
METHODS: A cross-sectional study was carried out among 305 Malaysian adults in six major districts, selected from urban, semi-urban, and rural settings in one state in Malaysia. A self-administered questionnaire was used in this study. It was comprised of socio-demographics, risk-taking behaviors, and validated domains of the Health Belief Model (HBM).
RESULTS: The mean (± SD) age of the respondents was 34.5 (± 9.6) and the majority (59.0%) of them were 30 years or older. Almost 20.7% of the respondents felt they were susceptible to colorectal cancer. Self-reported perceived susceptibility mirrored unsatisfactory screening behaviors owing to the lack of doctors' recommendation, ignorance of screening modalities, procrastination, and the perception that screening was unnecessary. Factors significantly associated with perceived susceptibility to colorectal cancer were gender (OR = 1.8, 95% CI 1.0-3.3), age (OR = 2. 2, 95% CI 1.2-4.0), ethnicity (OR = 0. 3, 95% CI 0.2-0.6), family history of colorectal cancer (OR = 3. 2, 95% CI 1.4-7.4) and alcohol intake (OR = 3.9, 95% CI 2.1-7.5).
CONCLUSION: The present study revealed that screening behavior among respondents was unsatisfactory. Hence, awareness of the importance of screening to prevent colorectal cancers is imperative.

Matched MeSH terms: Asian Continental Ancestry Group
Physical, psychological and sexual effects in multi-ethnic Malaysian women who have undergone hysterectomy

Wong LP, Arumugam K

J Obstet Gynaecol Res, 2012 Aug;38(8):1095-105.
PMID: 22540215 DOI: 10.1111/j.1447-0756.2011.01836.x

The postoperative effects on Asian women after hysterectomy have not been fully explored. This study was undertaken to investigate the physical, psychological and sexual functioning effects in multi-ethnic Malaysian women who have undergone hysterectomy.

Matched MeSH terms: Asian Continental Ancestry Group
Caesarean section and asthma in Malaysian children: a case-control study

Nathan AM, de Bruyne J, Khalid F, Arumugam K

Asian Pac J Allergy Immunol, 2012 Sep;30(3):204-8.
PMID: 23156850

Birth cohort studies in some countries have shown a link between caesarean section and asthma.

Matched MeSH terms: Asian Continental Ancestry Group
Consensus of official position of IOF/ISCD FRAX initiatives in Asia-Pacific region

Wu CH, McCloskey EV, Lee JK, Itabashi A, Prince R, Yu W, et al.

J Clin Densitom, 2014 Jan-Mar;17(1):150-5.
PMID: 23916756 DOI: 10.1016/j.jocd.2013.06.002

The fracture risk assessment tool (FRAX(®)) has been developed for the identification of individuals with high risk of fracture in whom treatment to prevent fractures would be appropriate. FRAX models are not yet available for all countries or ethnicities, but surrogate models can be used within regions with similar fracture risk. The International Society for Clinical Densitometry (ISCD) and International Osteoporosis Foundation (IOF) are nonprofit multidisciplinary international professional organizations. Their visions are to advance the awareness, education, prevention, and treatment of osteoporosis. In November 2010, the IOF/ISCD FRAX initiative was held in Bucharest, bringing together international experts to review and create evidence-based official positions guiding clinicians for the practical use of FRAX. A consensus meeting of the Asia-Pacific (AP) Panel of the ISCD recently reviewed the most current Official Positions of the Joint Official Positions of ISCD and IOF on FRAX in view of the different population characteristics and health standards in the AP regions. The reviewed position statements included not only the key spectrum of positions but also unique concerns in AP regions.

Matched MeSH terms: Asian Continental Ancestry Group*
Fulltext Association of the lupus low disease activity state (LLDAS) with health-related quality of life in a multinational prospective study

Golder V, Kandane-Rathnayake R, Hoi AY, Huq M, Louthrenoo W, An Y, et al.

Arthritis Res Ther, 2017 03 20;19(1):62.
PMID: 28320433 DOI: 10.1186/s13075-017-1256-6

BACKGROUND: Systemic lupus erythematosus (SLE) is associated with significant impairment of health-related quality of life (HR-QoL). Recently, meeting a definition of a lupus low disease activity state (LLDAS), analogous to low disease activity in rheumatoid arthritis, was preliminarily validated as associated with protection from damage accrual. The LLDAS definition has not been previously evaluated for association with patient-reported outcomes. The objective of this study was to determine whether LLDAS is associated with better HR-QoL, and examine predictors of HR-QoL, in a large multiethnic, multinational cohort of patients with SLE.
METHODS: HR-QoL was measured using the Medical Outcomes Study 36-item short form health survey (SF-36v2) in a prospective study of 1422 patients. Disease status was measured using the SLE disease activity index (SLEDAI-2 K), physician global assessment (PGA) and LLDAS.
RESULTS: Significant differences in SF-36 domain scores were found between patients stratified by ethnic group, education level and damage score, and with the presence of active musculoskeletal or cutaneous manifestations. In multiple linear regression analysis, Asian ethnicity (p

Matched MeSH terms: Asian Continental Ancestry Group/statistics & numerical data
Asian venous thromboembolism guidelines: prevention of venous thromboembolism

Liew NC, Chang YH, Choi G, Chu PH, Gao X, Gibbs H, et al.

Int Angiol, 2012 Dec;31(6):501-16.
PMID: 23222928

Venous thromboembolism (VTE) prophylaxis is under-utilized in Asia because of the misconception that its incidence is lower in Asians as compared to the Caucasians. The available data on VTE in Asia is limited due to the lack of well-designed multicenter randomized controlled trials as well as non-standardized research designs, making data comparison difficult. Emerging data indicates that the VTE incidence is not low in Asia, and is comparable to that reported in the Western literature in some instances. There is also a trend towards increasing incidence of VTE, as demonstrated by a number of hospital-based studies in Asia. This could be attributed to lifestyle changes, ageing population, increasing awareness of VTE and wider availability of Duplex ultrasound. The risk of VTE in hospitalized patients remain the same in Asians and Caucasians, even though there may be factors that are inherent to patients in Asia that influence the slight variation in incidence. The utilization rate of VTE prophylaxis remains suboptimal in Asia. The Asian Venous Thrombosis Forum (AVTF) comprises participants from various countries such as China, Hong Kong, India, Indonesia, Korea, Malaysia, Philippines, Singapore, Taiwan, Thailand and experts from Australia and Europe. The forum evaluated the available data on VTE from the Asian region and formulated guidelines tailored to meet the needs of the region. We recommend that serious considerations are given to VTE prophylaxis especially in the at-risk group and a formal hospital policy be established to facilitate the implementation. On admission to the hospital, we recommend assessing the patients for both VTE and bleeding risk. We recommend mechanical prophylaxis for patients at increased risk of bleeding and utilizing it as an adjunctive measure in combination with pharmacological prophylaxis in patients with high risk of VTE. For patients undergoing general or gynecological surgery and with moderate risk for VTE, we recommend prophylaxis with one of the following: low dose unfractionated heparin (LDUH), low molecular weight heparin (LMWH), fondaparinux or intermittent pneumatic compression (IPC). For the same group of patients at high risk of VTE, we recommend pharmacological or combination of pharmacological and mechanical prophylaxis. For patients undergoing major orthopedic surgeries like total hip replacement, total knee replacement and proximal hip fracture surgery, we recommend using one of the following: LMWH, fondaparinux, rivaroxaban, apixaban, edoxaban, dabigatran, warfarin or aspirin with IPC. For patients admitted to the hospital with acute medical illness and has moderate risk of VTE, we recommend prophylaxis with LDUH, LMWH or Fondaparinux. For the same group at high risk of VTE, we recommend combination of pharmacological and mechanical prophylaxis.

Matched MeSH terms: Asian Continental Ancestry Group
Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation

Thong MK, Fietz M, Nicholls C, Lee MH, Asma O

J Inherit Metab Dis, 2009 Dec;32 Suppl 1:S41-4.
PMID: 19165618 DOI: 10.1007/s10545-009-1031-1

There are few reports of congenital disorders of glycosylation (CDGs) in the Asian population, although they have been reported worldwide. We identified a Malaysian infant female at 2 days of life with CDG type Ia. The diagnosis was suspected on the basis of inverted nipples and abnormal fat distribution. She had cerebellar hypoplasia and developed coagulopathy, hypothyroidism and severe pericardial effusion and died at 7 months of life. The diagnosis was supported by abnormal serum transferrin isoform pattern that showed elevated levels of the disialotransferrin isoform and trace levels of the asialotransferrin isoform. Enzyme testing of peripheral leukocytes showed decreased level of phosphomannomutase (PMM) activity (0.6 nmol/min per mg protein, normal range 1.6-6.2) and a normal level of phosphomannose isomerase activity (19 nmol/min per mg protein, normal range 12-25), indicating a diagnosis of CDG type Ia. Mutation study of the PMM2 gene showed the patient was heterozygous for both the common p.R141H (c.422T>A) mutation and a novel sequence change in exon 7, c.618C>A. The latter change is predicted to result in the replacement of the highly conserved phenylalanine residue at position 206 with a leucine residue (p.F206L) and occurs in the same codon as the previously reported p.F206S mutation. Analysis of 100 control chromosomes has shown that the p.F206L sequence change is not present, making it highly likely that this change is functionally important. To the best of our knowledge, this is the first report of CDG in the Malay population. Prenatal diagnosis was successfully performed in a subsequent pregnancy for this family.

Matched MeSH terms: Asian Continental Ancestry Group/genetics
Cultural considerations in forgoing enteral feeding: A comparison between the Hong Kong Chinese, North American, and Malaysian Islamic patients with advanced dementia at the end-of-life

Ngan OMY, Bergstresser SM, Sanip S, Emdadul Haque ATM, Chan HYL, Au DKS

Dev World Bioeth, 2020 06;20(2):105-114.
PMID: 31241234 DOI: 10.1111/dewb.12239

Cultural competence, a clinical skill to recognise patients' cultural and religious beliefs, is an integral element in patient-centred medical practice. In the area of death and dying, physicians' understanding of patients' and families' values is essential for the delivery of culturally appropriate care. Dementia is a neurodegenerative condition marked by the decline of cognitive functions. When the condition progresses and deteriorates, patients with advanced dementia often have eating and swallowing problems and are at high risk of developing malnutrition. Enteral tube feeding is a conventional means of providing artificial nutrition and hydration to meet nutritional needs, but its benefits to the frail population are limitedly shown in the clinical evidence. Forgoing tube feeding is ethically challenging when patients are mentally incompetent and in the absence of an advance directive. Unlike some developed countries, like the United States of America, death and dying is a sensitive issue or even a taboo in some cultures in developing countries that forgoing enteral tube feeding is clinically and ethically challenging, such as China and Malaysia. This article in three parts 1) discusses the clinical and ethical issues related to forgoing tube feeding among patients with advanced dementia, 2) describes how Hong Kong Chinese, North American, and Malaysian Islamic cultures respond differently in the decision-making patterns of forgoing tube feeding for patients with advanced dementia, and 3) reiterates the clinical implications of cultural competence in end-of-life care.

Matched MeSH terms: Asian Continental Ancestry Group
Fulltext ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma

Nongpiur ME, Khor CC, Jia H, Cornes BK, Chen LJ, Qiao C, et al.

PLoS Genet, 2014 Mar;10(3):e1004089.
PMID: 24603532 DOI: 10.1371/journal.pgen.1004089

Anterior chamber depth (ACD) is a key anatomical risk factor for primary angle closure glaucoma (PACG). We conducted a genome-wide association study (GWAS) on ACD to discover novel genes for PACG on a total of 5,308 population-based individuals of Asian descent. Genome-wide significant association was observed at a sequence variant within ABCC5 (rs1401999; per-allele effect size = -0.045 mm, P = 8.17 × 10(-9)). This locus was associated with an increase in risk of PACG in a separate case-control study of 4,276 PACG cases and 18,801 controls (per-allele OR = 1.13 [95% CI: 1.06-1.22], P = 0.00046). The association was strengthened when a sub-group of controls with open angles were included in the analysis (per-allele OR = 1.30, P = 7.45 × 10(-9); 3,458 cases vs. 3,831 controls). Our findings suggest that the increase in PACG risk could in part be mediated by genetic sequence variants influencing anterior chamber dimensions.

Matched MeSH terms: Asian Continental Ancestry Group
Fulltext Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2

Orr N, Dudbridge F, Dryden N, Maguire S, Novo D, Perrakis E, et al.

Hum Mol Genet, 2015 May 15;24(10):2966-84.
PMID: 25652398 DOI: 10.1093/hmg/ddv035

We recently identified a novel susceptibility variant, rs865686, for estrogen-receptor positive breast cancer at 9q31.2. Here, we report a fine-mapping analysis of the 9q31.2 susceptibility locus using 43 160 cases and 42 600 controls of European ancestry ascertained from 52 studies and a further 5795 cases and 6624 controls of Asian ancestry from nine studies. Single nucleotide polymorphism (SNP) rs676256 was most strongly associated with risk in Europeans (odds ratios [OR] = 0.90 [0.88-0.92]; P-value = 1.58 × 10(-25)). This SNP is one of a cluster of highly correlated variants, including rs865686, that spans ∼14.5 kb. We identified two additional independent association signals demarcated by SNPs rs10816625 (OR = 1.12 [1.08-1.17]; P-value = 7.89 × 10(-09)) and rs13294895 (OR = 1.09 [1.06-1.12]; P-value = 2.97 × 10(-11)). SNP rs10816625, but not rs13294895, was also associated with risk of breast cancer in Asian individuals (OR = 1.12 [1.06-1.18]; P-value = 2.77 × 10(-05)). Functional genomic annotation using data derived from breast cancer cell-line models indicates that these SNPs localise to putative enhancer elements that bind known drivers of hormone-dependent breast cancer, including ER-α, FOXA1 and GATA-3. In vitro analyses indicate that rs10816625 and rs13294895 have allele-specific effects on enhancer activity and suggest chromatin interactions with the KLF4 gene locus. These results demonstrate the power of dense genotyping in large studies to identify independent susceptibility variants. Analysis of associations using subjects with different ancestry, combined with bioinformatic and genomic characterisation, can provide strong evidence for the likely causative alleles and their functional basis.

Matched MeSH terms: Asian Continental Ancestry Group/genetics

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