Trends in Consanguinity in South India

Krishnamoorthy, S.; N, Audinarayana

doi:10.1017/s0021932001001857

Cited by 29 publications

(17 citation statements)

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“…There were 13.4% prevalence of consanguinity in the epilepsy group which was comparable to that in the control group ( P =0.164). According to the National Family Health Survey data, frequency of consanguinity in India ranged from 15.9 to 32.9 (mean 22.2%),[4] yet its frequency is much less in Kerala state[5] Consanguinity leads to an increase in the incidence of monogenic recessive disorders including epilepsy.…”

Section: Discussionmentioning

confidence: 99%

Risk factors of childhood epilepsy in Kerala

Attumalil

Sundaram

Varghese

et al. 2011

Ann Indian Acad Neurol

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Background:We aimed to identify the risk factors for epilepsy in children.Materials and Methods:This case–control retrospective study was carried out in the pediatric neurology outpatient service of the Trivandrum Medical College. All children (1–12 years) with epilepsy satisfying the selection criteria were included, after obtaining consent from parents. Those with single seizures or febrile seizures were excluded. Controls were children without epilepsy attending the same hospital. Parents were interviewed and clinical data were obtained from medical records. Statistical analysis included chi-square test, odds ratio (OR), and logistic regression.Results:There were 82 cases and 160 controls whose mean age was 6.9 + 3.6 and 5.2 + 3.1, years respectively. On univariate analysis, family history of epilepsy, prolonged labor, cyanosis at birth, delayed cry after birth, admission to newborn intensive care unit, presence of congenital malformations, neurocutaneous markers, incessant cry in the first week, delayed developmental milestones, meningitis, encephalitis, and head trauma were found to be significant. On logistic regression, family history of epilepsy (OR 4.7), newborn distress (OR 8.6), delayed developmental milestones (OR 12.6), and head trauma (OR 5.8) were found to be significant predictors. Infants who had history of newborn distress are likely to manifest epilepsy before 1 year if they are eventually going to have epilepsy (OR 3.4).Conclusion:Modifiable factors such as newborn distress and significant head trauma are significant risk factors for childhood epilepsy. Newborn distress is a risk factor for early-onset (<1 year age) epilepsy.

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Section: Discussionmentioning

confidence: 99%

Risk factors of childhood epilepsy in Kerala

Attumalil

Sundaram

Varghese

et al. 2011

Ann Indian Acad Neurol

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“…As is widespread in some castes in south India (18), in this community marriages are often limited to within-members and consanguinity (marriages between first cousins) is practiced. As is widespread in some castes in south India (18), in this community marriages are often limited to within-members and consanguinity (marriages between first cousins) is practiced.…”

Section: Discussionmentioning

confidence: 99%

“…Information on AIRE mutations in diverse racial groups is scarce (13). In addition, some castes have developed distinct gene pools due to genetic drift, founder effect as well as the practice of consanguinity (18). India has great genetic and ethnic diversity with gene pools including the original (tribal) inhabitants, Dravidic-speaking populations in south India, Indo-Europeans in north India and other recent influences (17).…”

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confidence: 99%

Two novel AIRE mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) among Indians

et al. 2009

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Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare recessive disorder resulting from mutations in the autoimmune regulator (AIRE) gene. There is no information on AIRE mutations in Indians. In a cross-sectional study, nine patients (eight families), from four referral hospitals in India, were studied for AIRE mutations by direct sequencing. We screened for new mutations in 150 controls by allele-specific PCR. The patients had 1-7 known components of APECED. Three patients had unusual manifestations: presentation with type 1 diabetes; chronic sinusitis and otitis media; and facial dysmorphism. All patients carried homozygous, probably recessive, AIRE mutations. Two unrelated patients from a small in-bred community (Vanika Vaisya) in south India carried an unreported missense mutation, p.V80G, in the N-terminal caspase recruitment domain. Another unique mutation, p.C302X, resulting in a truncated protein with deletion of both zinc-finger domains, was detected in a patient from Gujarat. Neither mutation was detected in controls. Other mutations, previously described in Caucasians, were: 13 base pair deletion (p.C322fsX372) in 4 (38%), and Finn-major (p.R257X) and p.R139X (Sardinian) mutation in one subject each. In conclusion, in this first series of APECED in Indians, we detected AIRE mutations previously reported in Caucasians, as well as unique mutations. Of these, p.V80G is possibly an ancestral mutation in an in-bred community.

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“…The religious groups in India particularly in South India exhibit high level of second degree consanguinity. [1819] The inbreeding within these religious groups for several generations and selection of preferentially segregated nontaster allele to the subsequent generations cannot be ruled out. On the other hand, although PTC itself has not been found in nature, the ability to taste PTC is correlated strongly with the ability to taste other naturally occurring bitter substances, many of which are toxic.…”

Section: Discussionmentioning

confidence: 99%

Evolution of phenylthiocarbamide taster trait in Mysore, South India

Malini¹,

Ramegowda²,

Ramachandra³

2007

Indian J Hum Genet

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BACKGROUND:The ability to taste phenylthiocarbamide (PTC), a bitter chemical has long been known to be a heritable trait, which is being widely used for both genetic and anthropological studies. The frequency of taster and non-taster allele is found to vary in different populations.AIMS AND OBJECTIVE:To investigate the frequency of taster trait in Mysore, South India.MATERIALS AND METHODS:The present investigation was conducted in Mysore, South India during 2002 - 2003. About 3282 subjects irrespective of age, sex, religion, food habits, socio-economic status were randomly selected from various parts of the city and a total of 180 families, which included Christian (50), Hindu (61) and Muslim (69) were screened from different localities of the city. Harris and Kalmus method was used to assess the PTC taster and nontaster phenotype.RESULTS:It was found that tasters were significantly more frequent than nontasters in all the four categories. The incidence of tasters was more in unbiased category (85%) and less in Muslim category (58%). Investigations on PTC tasting in the families of three different religious groups revealed that the tasters were significantly more frequent than nontasters. It was also found that heterozygous father or mother for the taster genes with nontaster partner had taster and nontaster progenies in the ratio 1.0: 1.54 indicating the deviation in the segregation pattern of test cross.CONCLUSION:In Mysore, tasters are more frequent than nontasters. Variation in the frequency of nontaster allele in the religious groups could be due to inbreeding.

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Trends in Consanguinity in South India

Cited by 29 publications

References 0 publications

Risk factors of childhood epilepsy in Kerala

Risk factors of childhood epilepsy in Kerala

Two novel AIRE mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) among Indians

Evolution of phenylthiocarbamide taster trait in Mysore, South India

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